| Tag | Content |
|---|---|
| UniProt Accession | MEN1_HUMAN; O00255; |
| Entrez ID | 4221 |
| GenBank Protein ID | NM_000244.3; NM_130799.2; NM_130800.2; NM_130801.2; NM_130802.2; NM_130803.2; NM_130804.2; XM_005274001.4; XM_017017769.1; XM_017017770.1; |
| GenBank Nucleotide ID | NP_000235.2; NP_570711.1; NP_570712.1; NP_570713.1; NP_570714.1; NP_570715.1; NP_570716.1; XP_005274058.1; XP_016873258.1; XP_016873259.1; |
| Protein Name | Menin |
| Gene Name | MEN1; SCG2 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.Functional Description Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair. |
| Sequence (Fasta) | MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 60 LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 120 VSDVIWNSLS RSYFKDRAHI QSLFSFITGW SPVGTKLDSS GVAFAVVGAC QALGLRDVHL 180 ALSEDHAWVV FGPNGEQTAE VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME 240 VAFMVCAINP SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR 300 PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA TVIQDYNYCR 360 EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ GTQSQGSALQ DPECFAHLLR 420 FYDGICKWEE GSPTPVLHVG WATFLVQSLG RFEGQVRQKV RIVSREAEAA EAEEPWGEEA 480 REGRRRGPRR ESKPEEPPPP KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA 540 QVPAPTASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 600 SDYTLSFLKR QRKGL 616 Fasta Sequence>O00255|MEN1; SCG2|Homo sapiens (Human) MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | parathyroid tumours, pancreatic neuroendocrine tumour parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid multiple endocrine neoplasia type 1 |
| CTD (Curated) (count: 8) (view all) | MESH:D018268
; Adrenocortical Carcinoma MESH:D015408 ; Gastrinoma MESH:D005935 ; Glucagonoma MESH:D007340 ; Insulinoma MESH:D018761 ; Multiple Endocrine Neoplasia Type 1 MESH:D018358 ; Neuroendocrine Tumors |
| DisGeNet (Curated) (count: 98) (view all) | C0001206; Acromegaly
C0007095; Carcinoid Tumor C0011991; Diarrhea C0011993; Vipoma C0014544; Epilepsy C0014868; Esophagitis C0015672; Fatigue
C0017150; Gastrinoma C0017689; Glucagonoma C0018418; Gynecomastia C0018681; Headache C0020437; Hypercalcemia C0020438; Hypercalciuria C0020458; Hyperhidrosis disorder C0020502; Hyperparathyroidism C0020505; Hyperphagia C0020615; Hypoglycemia C0020649; Hypotension C0021670; insulinoma C0025267; Multiple Endocrine Neoplasia Type 1 C0027709; Nephrocalcinosis C0029453; Osteopenia C0029456; Osteoporosis C0030232; Pallor C0030252; Palpitations C0030297; Pancreatic Neoplasm C0030920; Peptic Ulcer C0032000; Pituitary Adenoma C0033375; Prolactinoma C0036572; Seizures C0038990; Sweating C0040128; Thyroid Diseases C0040822; Tremor C0042963; Vomiting C0043094; Weight Gain C0043515; Zollinger-Ellison syndrome C0085682; Hypophosphatemia C0151468; Thyroid Gland Follicular Adenoma C0151639; Decreased fertility in females C0151640; Decreased male fertility C0151721; Testicular hypogonadism C0206667; Adrenal Cortical Adenoma C0206686; Adrenocortical carcinoma C0206731; Angiofibroma C0206754; Neuroendocrine Tumors C0221002; Hyperparathyroidism, Primary C0221263; Cafe-au-Lait Spots C0232461; Increased appetite (finding) C0235986; Growth hormone excess C0242350; Erectile dysfunction C0262527; intermittent abdominal pain C0262587; Parathyroid Adenoma C0265319; Fibrous skin tumor of tuberous sclerosis C0265974; Birthmark C0268079; Hyperphosphaturia C0271578; Female hypogonadism syndrome C0271623; Hypogonadotropic hypogonadism C0271710; Reactive hypoglycemia C0271844; Parathyroid hyperplasia C0338078; Non-Functioning Pituitary Gland Neoplasm C0338591; Amnesia, Transient Global C0342388; Adrenocorticotropic hormone (ACTH) deficiency (disorder) C0424585; Tires quickly C0475732; Hypercalcemia, Infantile C0553730; Calcium pyrophosphate deposition disease C0700590; Increased sweating C0746674; Generalized muscle weakness C0747078; Generalized osteopenia C0857973; Increased serum parathyroid hormone C0948023; Urine phosphorous concentration above normal C1368816; Sebaceous adenoma C1384606; Dyspareunia C1403035; Subcutaneous lipomas C1837098; Easy fatigability C1839364; Progressive visual loss C1840402; HYPERPARATHYROIDISM 1 C1846288; Recurrent hypoglycemia C1851705; Confetti-like hypopigmented macules C1851959; Fluctuations in consciousness C1864903; Hyperinsulinaemic hypoglycaemia C1864954; Hyperinsulinemia, fasting C1865292; Nonketotic hypoglycemia C2219717; menstrual periods stopped for over 6 months C3277697; Decreased visual acuity, progressive C3489396; Hypogonadism, Isolated Hypogonadotropic C3665349; Secondary hypothyroidism C3665358; Galactorrhea C3805887; Generalized osteoporosis with pathologic fractures C3808022; Abdominal pain, episodic C4018860; Pituitary growth hormone cell adenoma C4022676; Decreased female libido C4023211; Adrenocorticotropin deficient adrenal insufficiency C4023401; Abnormality of hair density C4024716; Secondary growth hormone deficiency C4025043; Abnormality of the pancreatic islet cells C4025651; Increased circulating cortisol level C4025669; Decreased circulating ACTH level C4280679; Increased calcium level in kidney |
| HGMD (count: 566) (view all) | CD982779; Multiple endocrine neoplasia 1; Small deletions
CD055703; Multiple endocrine neoplasia 1; Small deletions CD982768; Multiple endocrine neoplasia 1; Small deletions CD972314; Multiple endocrine neoplasia 1; Small deletions CD065756; Hyperparathyroidism; Small deletions CD075462; Multiple endocrine neoplasia 1; Small deletions CD025488; Multiple endocrine neoplasia 1; Small deletions
CD077409; Multiple endocrine neoplasia 1; Small deletions CD024049; Multiple endocrine neoplasia 1; Small deletions CD982780; Multiple endocrine neoplasia 1; Small deletions CD982786; Multiple endocrine neoplasia 1; Small deletions CD993824; Multiple endocrine neoplasia 1; Small deletions CD025489; Multiple endocrine neoplasia 1; Small deletions CD066372; Hyperparathyroidism; Small deletions CD054365; Multiple endocrine neoplasia 1; Small deletions CD982762; Multiple endocrine neoplasia 1; Small deletions CD077410; Multiple endocrine neoplasia 1; Small deletions CD021201; Multiple endocrine neoplasia 1; Small deletions HD070006; Multiple endocrine neoplasia 1; Small deletions CD021419; Multiple endocrine neoplasia 1; Small deletions CD982783; Multiple endocrine neoplasia 1; Small deletions CD991791; Multiple endocrine neoplasia 1; Small deletions CD972311; Multiple endocrine neoplasia 1; Small deletions CD983973; Multiple endocrine neoplasia 1; Small deletions CD040594; Hyperparathyroidism; Small deletions CD065757; Multiple endocrine neoplasia 1; Small deletions CD054366; Multiple endocrine neoplasia 1; Small deletions CD077411; Multiple endocrine neoplasia 1; Small deletions CD021426; Multiple endocrine neoplasia 1; Small deletions CD054367; Multiple endocrine neoplasia 1; Small deletions CD054368; Multiple endocrine neoplasia 1; Small deletions CD982788; Multiple endocrine neoplasia 1; Small deletions CD077412; Multiple endocrine neoplasia 1; Small deletions CD972303; Multiple endocrine neoplasia 1; Small deletions CD982754; Multiple endocrine neoplasia 1; Small deletions CD075463; Multiple endocrine neoplasia 1; Small deletions CD982758; Multiple endocrine neoplasia 1; Small deletions CD066687; Multiple endocrine neoplasia 1; Small deletions CD067554; Multiple endocrine neoplasia 1; Small deletions CD054369; Multiple endocrine neoplasia 1; Small deletions CD003719; Multiple endocrine neoplasia 1; Small deletions CD003721; Multiple endocrine neoplasia 1; Small deletions CD077413; Multiple endocrine neoplasia 1; Small deletions CD054370; Multiple endocrine neoplasia 1; Small deletions CD982759; Multiple endocrine neoplasia 1; Small deletions CD993825; Multiple endocrine neoplasia 1; Small deletions CD021424; Multiple endocrine neoplasia 1; Small deletions CD054371; Multiple endocrine neoplasia 1; Small deletions CD005468; Multiple endocrine neoplasia 1; Small deletions CD982785; Multiple endocrine neoplasia 1; Small deletions CD065759; Multiple endocrine neoplasia 1; Small deletions CD982773; Multiple endocrine neoplasia 1; Small deletions CD021418; Multiple endocrine neoplasia 1; Small deletions CD972305; Multiple endocrine neoplasia 1; Small deletions CD075464; Multiple endocrine neoplasia 1; Small deletions CD973218; Multiple endocrine neoplasia 1; Small deletions CD068110; Multiple endocrine neoplasia 1; Small deletions CD982764; Multiple endocrine neoplasia 1; Small deletions CD972310; Multiple endocrine neoplasia 1; Small deletions CD993823; Multiple endocrine neoplasia 1; Small deletions CD067891; Multiple endocrine neoplasia 1; Small deletions CD021423; Multiple endocrine neoplasia 1; Small deletions CD982782; Multiple endocrine neoplasia 1; Small deletions CD991789; Multiple endocrine neoplasia 1; Small deletions CD031060; Hyperparathyroidism; Small deletions CD982769; Multiple endocrine neoplasia 1; Small deletions CD983456; Multiple endocrine neoplasia 1; Small deletions CD005469; Multiple endocrine neoplasia 1; Small deletions CD050147; Multiple endocrine neoplasia 1; Small deletions CD035819; Multiple endocrine neoplasia 1; Small deletions CD021425; Multiple endocrine neoplasia 1; Small deletions CD077414; Multiple endocrine neoplasia 1; Small deletions CD982777; Multiple endocrine neoplasia 1; Small deletions CD982775; Multiple endocrine neoplasia 1; Small deletions CD086680; Multiple endocrine neoplasia 1; Small deletions CD982755; Multiple endocrine neoplasia 1; Small deletions CD982774; Multiple endocrine neoplasia 1; Small deletions CD093064; Multiple endocrine neoplasia 1; Small deletions CD991792; Multiple endocrine neoplasia 1; Small deletions CD077415; Multiple endocrine neoplasia 1; Small deletions CD077416; Multiple endocrine neoplasia 1; Small deletions CD032745; Multiple endocrine neoplasia 1; Small deletions CD077417; Multiple endocrine neoplasia 1; Small deletions CD972304; Multiple endocrine neoplasia 1; Small deletions CD054372; Multiple endocrine neoplasia 1; Small deletions CD021421; Multiple endocrine neoplasia 1; Small deletions CD002520; Multiple endocrine neoplasia 1; Small deletions CD014659; Multiple endocrine neoplasia 1; Small deletions CD023522; Multiple endocrine neoplasia 1; Small deletions CD972312; Multiple endocrine neoplasia 1; Small deletions CD075465; Multiple endocrine neoplasia 1; Small deletions CD982766; Multiple endocrine neoplasia 1; Small deletions CD991788; Multiple endocrine neoplasia 1; Small deletions CD982760; Multiple endocrine neoplasia 1; Small deletions CD050145; Multiple endocrine neoplasia 1; Small deletions CD022161; Hyperparathyroidism; Small deletions CD013182; Multiple endocrine neoplasia 1; Small deletions CD057807; Multiple endocrine neoplasia 1; Small deletions CD972315; Multiple endocrine neoplasia 1; Small deletions CD055704; Multiple endocrine neoplasia 1; Small deletions CD016122; Multiple endocrine neoplasia 1; Small deletions CD021427; Multiple endocrine neoplasia 1; Small deletions CD077693; Multiple endocrine neoplasia 1; Small deletions CD982789; Multiple endocrine neoplasia 1; Small deletions CD972313; Multiple endocrine neoplasia 1; Small deletions CD982771; Multiple endocrine neoplasia 1; Small deletions CD005470; Multiple endocrine neoplasia 1; Small deletions CD065758; Multiple endocrine neoplasia 1; Small deletions CD068111; Multiple endocrine neoplasia 1; Small deletions CD995251; Multiple endocrine neoplasia 1; Small deletions CD972309; Multiple endocrine neoplasia 1; Small deletions CD055705; Multiple endocrine neoplasia 1; Small deletions CD982757; Multiple endocrine neoplasia 1; Small deletions CD972316; Multiple endocrine neoplasia 1; Small deletions CD982776; Multiple endocrine neoplasia 1; Small deletions CD972306; Multiple endocrine neoplasia 1; Small deletions CD983459; Multiple endocrine neoplasia 1; Small deletions CD982756; Multiple endocrine neoplasia 1; Small deletions CD055706; Multiple endocrine neoplasia 1; Small deletions CD972308; Multiple endocrine neoplasia 1; Small deletions CD055707; Multiple endocrine neoplasia 1; Small deletions CD003723; Multiple endocrine neoplasia 1; Small deletions CD982781; Multiple endocrine neoplasia 1; Small deletions CD035820; Multiple endocrine neoplasia 1; Small deletions CD013181; Multiple endocrine neoplasia 1; Small deletions CD982770; Multiple endocrine neoplasia 1; Small deletions CD982778; Multiple endocrine neoplasia 1; Small deletions CD982787; Multiple endocrine neoplasia 1; Small deletions CD055708; Multiple endocrine neoplasia 1; Small deletions CD983458; Multiple endocrine neoplasia 1; Small deletions CD077418; Multiple endocrine neoplasia 1; Small deletions CD077419; Multiple endocrine neoplasia 1; Small deletions CD077694; Multiple endocrine neoplasia 1; Small deletions CD982761; Multiple endocrine neoplasia 1; Small deletions CD982784; Multiple endocrine neoplasia 1; Small deletions CD054373; Multiple endocrine neoplasia 1; Small deletions HD971690; Multiple endocrine neoplasia 1; Small deletions CD077420; Multiple endocrine neoplasia 1; Small deletions CD077421; Multiple endocrine neoplasia 1; Small deletions CD982765; Multiple endocrine neoplasia 1; Small deletions CD972318; Multiple endocrine neoplasia 1; Small deletions CD055709; Multiple endocrine neoplasia 1; Small deletions CD972307; Multiple endocrine neoplasia 1; Small deletions CD004626; Hyperparathyroidism; Small deletions CD021416; Multiple endocrine neoplasia 1; Small deletions CD054374; Multiple endocrine neoplasia 1; Small deletions CD076828; Multiple endocrine neoplasia 1; Small deletions CD982772; Multiple endocrine neoplasia 1; Small deletions CD050146; Multiple endocrine neoplasia 1; Small deletions CD075466; Multiple endocrine neoplasia 1; Small deletions CD054375; Multiple endocrine neoplasia 1; Small deletions CD021417; Multiple endocrine neoplasia 1; Small deletions CD003720; Multiple endocrine neoplasia 1; Small deletions CD021422; Multiple endocrine neoplasia 1; Small deletions CD992523; Multiple endocrine neoplasia 1; Small deletions CD056465; Multiple endocrine neoplasia 1; Small deletions CD065760; Multiple endocrine neoplasia 1; Small deletions CD004625; Hyperparathyroidism; Small deletions CD055710; Multiple endocrine neoplasia 1; Small deletions CD972317; Multiple endocrine neoplasia 1; Small deletions CD992522; Multiple endocrine neoplasia 1; Small deletions CD050148; Multiple endocrine neoplasia 1; Small deletions CD982763; Multiple endocrine neoplasia 1; Small deletions CD075467; Multiple endocrine neoplasia 1; Small deletions CD982767; Multiple endocrine neoplasia 1; Small deletions CD035821; Multiple endocrine neoplasia 1; Small deletions CD004308; Multiple endocrine neoplasia 1; Small deletions CD031061; Hyperparathyroidism; Small deletions CD054376; Multiple endocrine neoplasia 1; Small deletions CD003722; Multiple endocrine neoplasia 1; Small deletions CD054377; Multiple endocrine neoplasia 1; Small deletions CD077695; Multiple endocrine neoplasia 1; Small deletions CG075831; Multiple endocrine neoplasia 1; Gross deletions CG055864; Multiple endocrine neoplasia 1; Gross deletions CG024949; Multiple endocrine neoplasia 1; Gross deletions CG994953; Multiple endocrine neoplasia 1; Gross deletions CG005088; Multiple endocrine neoplasia 1; Gross deletions CG024950; Multiple endocrine neoplasia 1; Gross deletions CG005089; Multiple endocrine neoplasia 1; Gross deletions CG024951; Multiple endocrine neoplasia 1; Gross deletions CG066712; Multiple endocrine neoplasia 1; Gross deletions CG035874; Multiple endocrine neoplasia 1; Gross deletions CG081070; Multiple endocrine neoplasia 1; Gross deletions CG973491; Multiple endocrine neoplasia 1; Gross deletions CG077479; Multiple endocrine neoplasia 1; Gross deletions CG055865; Multiple endocrine neoplasia 1; Gross deletions CG075832; Multiple endocrine neoplasia 1; Gross deletions CG077480; Multiple endocrine neoplasia 1; Gross deletions CG035246; Multiple endocrine neoplasia 1; Gross deletions CG024952; Multiple endocrine neoplasia 1; Gross deletions CG044837; Multiple endocrine neoplasia 1; Gross deletions CG045860; Multiple endocrine neoplasia 1; Gross deletions CG024953; Multiple endocrine neoplasia 1; Gross deletions CG024954; Multiple endocrine neoplasia 1; Gross deletions CG075833; Multiple endocrine neoplasia 1; Gross deletions CG087435; Multiple endocrine neoplasia 1; Gross deletions CG075834; Multiple endocrine neoplasia 1; Gross deletions CG005090; Multiple endocrine neoplasia 1; Gross deletions CG984396; Multiple endocrine neoplasia 1; Gross deletions CX983280; Multiple endocrine neoplasia 1; Small indels CX075737; Multiple endocrine neoplasia 1; Small indels CX055790; Multiple endocrine neoplasia 1; Small indels CX021480; Multiple endocrine neoplasia 1; Small indels CX054521; Multiple endocrine neoplasia 1; Small indels CX002575; Multiple endocrine neoplasia 1; Small indels CX055791; Multiple endocrine neoplasia 1; Small indels CX983278; Multiple endocrine neoplasia 1; Small indels CX055792; Multiple endocrine neoplasia 1; Small indels CX050954; Multiple endocrine neoplasia 1; Small indels CX992107; Multiple endocrine neoplasia 1; Small indels CP052809; Multiple endocrine neoplasia 1; Small indels CX035827; Multiple endocrine neoplasia 1; Small indels CX983279; Multiple endocrine neoplasia 1; Small indels CX066452; Multiple endocrine neoplasia 1; Small indels CX972749; Multiple endocrine neoplasia 1; Small indels CX005472; Multiple endocrine neoplasia 1; Small indels CP052808; Multiple endocrine neoplasia 1; Small indels CX050163; Multiple endocrine neoplasia 1; Small indels CX055793; Multiple endocrine neoplasia 1; Small indels CX992585; Multiple endocrine neoplasia 1; Small indels CX993826; Multiple endocrine neoplasia 1; Small indels CX983277; Multiple endocrine neoplasia 1; Small indels CI054470; Multiple endocrine neoplasia 1; Small insertions CI025490; Multiple endocrine neoplasia 1; Small insertions CI983150; Multiple endocrine neoplasia 1; Small insertions CI021458; Multiple endocrine neoplasia 1; Small insertions CI983147; Multiple endocrine neoplasia 1; Small insertions CI983142; Multiple endocrine neoplasia 1; Small insertions CI021453; Multiple endocrine neoplasia 1; Small insertions CI055759; Multiple endocrine neoplasia 1; Small insertions CI021231; Multiple endocrine neoplasia 1; Small insertions CI035826; Multiple endocrine neoplasia 1; Small insertions CI090056; Multiple endocrine neoplasia 1; Small insertions CI021456; Multiple endocrine neoplasia 1; Small insertions CI024071; Hyperparathyroidism; Small insertions CI004325; Multiple endocrine neoplasia 1; Small insertions CI983145; Multiple endocrine neoplasia 1; Small insertions CI983151; Multiple endocrine neoplasia 1; Small insertions CI983141; Multiple endocrine neoplasia 1; Small insertions CI983143; Multiple endocrine neoplasia 1; Small insertions CI002560; Multiple endocrine neoplasia 1; Small insertions CI021459; Multiple endocrine neoplasia 1; Small insertions CI994560; Atypical endocrine neoplasia; Small insertions CI016124; Multiple endocrine neoplasia 1; Small insertions CI003729; Multiple endocrine neoplasia 1; Small insertions CI083394; Multiple endocrine neoplasia 1; Small insertions CI992045; Multiple endocrine neoplasia 1; Small insertions CI040638; Hyperparathyroidism; Small insertions CI004803; Multiple endocrine neoplasia 1; Small insertions CI023560; Multiple endocrine neoplasia 1; Small insertions CI973220; Multiple endocrine neoplasia 1; Small insertions CI983140; Multiple endocrine neoplasia 1; Small insertions CI054471; Multiple endocrine neoplasia 1; Small insertions CI021455; Multiple endocrine neoplasia 1; Small insertions CI984694; Multiple endocrine neoplasia 1; Small insertions CI983146; Multiple endocrine neoplasia 1; Small insertions CI054472; Multiple endocrine neoplasia 1; Small insertions CI002924; Parathyroid tumour; Small insertions CI050159; Multiple endocrine neoplasia 1; Small insertions CI983149; Multiple endocrine neoplasia 1; Small insertions CI021457; Multiple endocrine neoplasia 1; Small insertions CI016125; Multiple endocrine neoplasia 1; Small insertions CI972637; Multiple endocrine neoplasia 1; Small insertions CI972638; Multiple endocrine neoplasia 1; Small insertions CI992044; Multiple endocrine neoplasia 1; Small insertions CI002559; Multiple endocrine neoplasia 1; Small insertions CI972639; Multiple endocrine neoplasia 1; Small insertions CI992046; Multiple endocrine neoplasia 1; Small insertions CI024070; Hyperparathyroidism; Small insertions CI992047; Multiple endocrine neoplasia 1; Small insertions CI054473; Multiple endocrine neoplasia 1; Small insertions CI004324; Multiple endocrine neoplasia 1; Small insertions CI090057; Multiple endocrine neoplasia 1; Small insertions CI055761; Multiple endocrine neoplasia 1; Small insertions CI067912; Multiple endocrine neoplasia 1; Small insertions CI983461; Multiple endocrine neoplasia 1; Small insertions CI983152; Multiple endocrine neoplasia 1; Small insertions CI054474; Multiple endocrine neoplasia 1; Small insertions CI054475; Multiple endocrine neoplasia 1; Small insertions CI021460; Multiple endocrine neoplasia 1; Small insertions CI004323; Multiple endocrine neoplasia 1; Small insertions CI025491; Multiple endocrine neoplasia 1; Small insertions CI972640; Multiple endocrine neoplasia 1; Small insertions CI054476; Multiple endocrine neoplasia 1; Small insertions CI983144; Multiple endocrine neoplasia 1; Small insertions CI992048; Multiple endocrine neoplasia 1; Small insertions CI021454; Multiple endocrine neoplasia 1; Small insertions CI983148; Multiple endocrine neoplasia 1; Small insertions CI992565; Multiple endocrine neoplasia 1; Small insertions CM022042; Hyperparathyroidism; Missense/nonsense CM970915; Multiple endocrine neoplasia 1; Missense/nonsense CM970916; Multiple endocrine neoplasia 1; Missense/nonsense CM981248; Multiple endocrine neoplasia 1; Missense/nonsense CM065303; Multiple endocrine neoplasia 1; Missense/nonsense CM093065; Multiple endocrine neoplasia 1 ?; Missense/nonsense CM056977; Multiple endocrine neoplasia 1; Missense/nonsense CM981249; Multiple endocrine neoplasia 1; Missense/nonsense CM023422; Multiple endocrine neoplasia 1; Missense/nonsense CM074355; Multiple endocrine neoplasia 1; Missense/nonsense CM990840; Multiple endocrine neoplasia 1; Missense/nonsense CM981250; Multiple endocrine neoplasia 1; Missense/nonsense CM055433; Multiple endocrine neoplasia 1; Missense/nonsense CM981251; Multiple endocrine neoplasia 1; Missense/nonsense CM003680; Multiple endocrine neoplasia 1; Missense/nonsense CM055434; Multiple endocrine neoplasia 1; Missense/nonsense CM023423; Multiple endocrine neoplasia 1; Missense/nonsense CM055436; Multiple endocrine neoplasia 1; Missense/nonsense CM053981; Multiple endocrine neoplasia 1; Missense/nonsense CM056976; Multiple endocrine neoplasia 1; Missense/nonsense CM981252; Multiple endocrine neoplasia 1; Missense/nonsense CM970917; Multiple endocrine neoplasia 1; Missense/nonsense CM021285; Multiple endocrine neoplasia 1; Missense/nonsense CM970918; Multiple endocrine neoplasia 1; Missense/nonsense CM050661; Multiple endocrine neoplasia 1; Missense/nonsense CM077297; Multiple endocrine neoplasia 1; Missense/nonsense CM077602; Multiple endocrine neoplasia 1; Missense/nonsense CM077600; Multiple endocrine neoplasia 1; Missense/nonsense CM970919; Multiple endocrine neoplasia 1; Missense/nonsense CM981253; Multiple endocrine neoplasia 1; Missense/nonsense CM033916; Multiple endocrine neoplasia 1; Missense/nonsense CM981254; Multiple endocrine neoplasia 1; Missense/nonsense CM031238; Multiple endocrine neoplasia 1; Missense/nonsense CM994386; Multiple endocrine neoplasia 1; Missense/nonsense CM970920; Multiple endocrine neoplasia 1; Missense/nonsense CM970921; Multiple endocrine neoplasia 1; Missense/nonsense HM070138; Multiple endocrine neoplasia 1; Missense/nonsense CM970922; Multiple endocrine neoplasia 1; Missense/nonsense CM025481; Multiple endocrine neoplasia 1; Missense/nonsense CM074341; Multiple endocrine neoplasia 1; Missense/nonsense CM077293; Multiple endocrine neoplasia 1; Missense/nonsense CM030900; Hyperparathyroidism; Missense/nonsense CM074349; Multiple endocrine neoplasia 1; Missense/nonsense CM021286; Multiple endocrine neoplasia 1; Missense/nonsense CM994387; Multiple endocrine neoplasia 1; Missense/nonsense CM074342; Multiple endocrine neoplasia 1; Missense/nonsense CM077295; Multiple endocrine neoplasia 1; Missense/nonsense CM074343; Multiple endocrine neoplasia 1; Missense/nonsense CM990841; Multiple endocrine neoplasia 1; Missense/nonsense CM981255; Multiple endocrine neoplasia 1; Missense/nonsense CM970923; Multiple endocrine neoplasia 1; Missense/nonsense CM021287; Multiple endocrine neoplasia 1; Missense/nonsense CM981256; Multiple endocrine neoplasia 1; Missense/nonsense CM021288; Multiple endocrine neoplasia 1; Missense/nonsense CM055437; Multiple endocrine neoplasia 1; Missense/nonsense CM983963; Multiple endocrine neoplasia 1; Missense/nonsense CM981257; Multiple endocrine neoplasia 1; Missense/nonsense CM065302; Hyperparathyroidism; Missense/nonsense CM083722; Multiple endocrine neoplasia 1 ?; Missense/nonsense CM981258; Multiple endocrine neoplasia 1; Missense/nonsense CM970924; Multiple endocrine neoplasia 1; Missense/nonsense CM066127; Multiple endocrine neoplasia 1 ?; Missense/nonsense CM990842; Multiple endocrine neoplasia 1; Missense/nonsense CM003943; Multiple endocrine neoplasia 1; Missense/nonsense CM004257; Multiple endocrine neoplasia 1; Missense/nonsense CM054776; Multiple endocrine neoplasia 1; Missense/nonsense CM993810; Multiple endocrine neoplasia 1; Missense/nonsense CM981259; Multiple endocrine neoplasia 1; Missense/nonsense CM970925; Multiple endocrine neoplasia 1; Missense/nonsense CM970926; Multiple endocrine neoplasia 1; Missense/nonsense CM066129; Multiple endocrine neoplasia 1 ?; Missense/nonsense CM981260; Hyperparathyroidism; Missense/nonsense CM981261; Multiple endocrine neoplasia 1; Missense/nonsense CM065306; Hyperparathyroidism; Missense/nonsense CM077599; Multiple endocrine neoplasia 1; Missense/nonsense CM067697; Multiple endocrine neoplasia 1; Missense/nonsense CM040455; Hyperparathyroidism ?; Missense/nonsense CM990843; Multiple endocrine neoplasia 1; Missense/nonsense CM970927; Multiple endocrine neoplasia 1; Missense/nonsense CM992344; Multiple endocrine neoplasia 1; Missense/nonsense CM003681; Multiple endocrine neoplasia 1; Missense/nonsense CM981262; Multiple endocrine neoplasia 1; Missense/nonsense CM055438; Multiple endocrine neoplasia 1; Missense/nonsense CM085538; Hyperparathyroidism; Missense/nonsense CM050065; Multiple endocrine neoplasia 1; Missense/nonsense CM981263; Multiple endocrine neoplasia 1; Missense/nonsense CM074347; Multiple endocrine neoplasia 1; Missense/nonsense CM993811; Multiple endocrine neoplasia 1; Missense/nonsense CM033917; Multiple endocrine neoplasia 1; Missense/nonsense CM981264; Multiple endocrine neoplasia 1; Missense/nonsense CM025480; Multiple endocrine neoplasia 1; Missense/nonsense CM045305; Multiple endocrine neoplasia 1; Missense/nonsense CM004415; Multiple endocrine neoplasia 1; Missense/nonsense CM074350; Multiple endocrine neoplasia 1; Missense/nonsense CM990844; Multiple endocrine neoplasia 1; Missense/nonsense CM993812; Multiple endocrine neoplasia 1; Missense/nonsense CM033918; Multiple endocrine neoplasia 1; Missense/nonsense CM970928; Multiple endocrine neoplasia 1; Missense/nonsense CM993813; Multiple endocrine neoplasia 1; Missense/nonsense CM021289; Multiple endocrine neoplasia 1; Missense/nonsense CM002806; Parathyroid tumour; Missense/nonsense CM074352; Multiple endocrine neoplasia 1; Missense/nonsense CM981265; Hyperparathyroidism; Missense/nonsense CM074348; Multiple endocrine neoplasia 1; Missense/nonsense CM990845; Multiple endocrine neoplasia 1; Missense/nonsense CM090058; Multiple endocrine neoplasia 1; Missense/nonsense CM053977; Multiple endocrine neoplasia 1; Missense/nonsense CM004616; Hyperparathyroidism; Missense/nonsense CM970929; Multiple endocrine neoplasia 1; Missense/nonsense CM981266; Multiple endocrine neoplasia 1; Missense/nonsense CM981267; Multiple endocrine neoplasia 1; Missense/nonsense CM990846; Multiple endocrine neoplasia 1; Missense/nonsense CM970930; Multiple endocrine neoplasia 1; Missense/nonsense CM005465; Multiple endocrine neoplasia 1; Missense/nonsense CM990847; Hyperparathyroidism; Missense/nonsense CM005464; Multiple endocrine neoplasia 1; Missense/nonsense CM981268; Multiple endocrine neoplasia 1; Missense/nonsense CM074351; Multiple endocrine neoplasia 1; Missense/nonsense CM002807; Parathyroid tumour; Missense/nonsense CM023424; Multiple endocrine neoplasia 1; Missense/nonsense CM022969; Hyperparathyroidism; Missense/nonsense CM033919; Multiple endocrine neoplasia 1; Missense/nonsense CM021290; Multiple endocrine neoplasia 1; Missense/nonsense CM981269; Multiple endocrine neoplasia 1; Missense/nonsense CM970931; Multiple endocrine neoplasia 1; Missense/nonsense CM056975; Multiple endocrine neoplasia 1; Missense/nonsense CM001725; Hyperparathyroidism; Missense/nonsense CM970932; Multiple endocrine neoplasia 1; Missense/nonsense CM970933; Multiple endocrine neoplasia 1; Missense/nonsense CM021291; Multiple endocrine neoplasia 1; Missense/nonsense CM970934; Multiple endocrine neoplasia 1; Missense/nonsense CM981270; Multiple endocrine neoplasia 1; Missense/nonsense CM990848; Multiple endocrine neoplasia 1; Missense/nonsense CM981271; Multiple endocrine neoplasia 1; Missense/nonsense CM055435; Multiple endocrine neoplasia 1; Missense/nonsense CM053982; Multiple endocrine neoplasia 1; Missense/nonsense CM021292; Multiple endocrine neoplasia 1; Missense/nonsense CM004258; Multiple endocrine neoplasia 1; Missense/nonsense CM053975; Multiple endocrine neoplasia 1; Missense/nonsense CM983964; Multiple endocrine neoplasia 1; Missense/nonsense CM031239; Multiple endocrine neoplasia 1; Missense/nonsense CM970935; Multiple endocrine neoplasia 1; Missense/nonsense CM031240; Multiple endocrine neoplasia 1; Missense/nonsense CM004259; Multiple endocrine neoplasia 1; Missense/nonsense CM981272; Multiple endocrine neoplasia 1; Missense/nonsense CM074344; Multiple endocrine neoplasia 1; Missense/nonsense CM053978; Multiple endocrine neoplasia 1; Missense/nonsense CM077296; Multiple endocrine neoplasia 1; Missense/nonsense CM021293; Multiple endocrine neoplasia 1; Missense/nonsense CM981273; Multiple endocrine neoplasia 1; Missense/nonsense CM992345; Multiple endocrine neoplasia 1; Missense/nonsense CM034960; Multiple endocrine neoplasia 1; Missense/nonsense CM970936; Multiple endocrine neoplasia 1; Missense/nonsense CM004260; Multiple endocrine neoplasia 1; Missense/nonsense CM981274; Multiple endocrine neoplasia 1; Missense/nonsense CM085537; Multiple endocrine neoplasia 1; Missense/nonsense CM085536; Hyperparathyroidism; Missense/nonsense CM045176; Multiple endocrine neoplasia 1; Missense/nonsense CM065307; Multiple endocrine neoplasia 1; Missense/nonsense CM004416; Multiple endocrine neoplasia 1; Missense/nonsense CM973232; Multiple endocrine neoplasia 1; Missense/nonsense CM044021; Multiple endocrine neoplasia 1; Missense/nonsense CM053976; Multiple endocrine neoplasia 1; Missense/nonsense CM021294; Multiple endocrine neoplasia 1; Missense/nonsense CM005463; Multiple endocrine neoplasia 1; Missense/nonsense CM034885; Multiple endocrine neoplasia 1; Missense/nonsense CM074354; Multiple endocrine neoplasia 1; Missense/nonsense CM065305; Multiple endocrine neoplasia 1; Missense/nonsense CM004617; Hyperparathyroidism; Missense/nonsense CM981275; Multiple endocrine neoplasia 1; Missense/nonsense CM021295; Multiple endocrine neoplasia 1; Missense/nonsense CM004417; Multiple endocrine neoplasia 1; Missense/nonsense CM055432; Multiple endocrine neoplasia 1; Missense/nonsense CM074345; Multiple endocrine neoplasia 1; Missense/nonsense CM004261; Multiple endocrine neoplasia 1; Missense/nonsense CM981276; Multiple endocrine neoplasia 1; Missense/nonsense CM994388; Multiple endocrine neoplasia 1; Missense/nonsense CM990849; Multiple endocrine neoplasia 1; Missense/nonsense CM065301; Multiple endocrine neoplasia 1; Missense/nonsense CM004262; Multiple endocrine neoplasia 1; Missense/nonsense CM031241; Multiple endocrine neoplasia 1; Missense/nonsense CM050066; Multiple endocrine neoplasia 1; Missense/nonsense CM030901; Hyperparathyroidism; Missense/nonsense CM016110; Multiple endocrine neoplasia 1; Missense/nonsense CM074346; Multiple endocrine neoplasia 1; Missense/nonsense CM055431; Multiple endocrine neoplasia 1; Missense/nonsense CM010342; Multiple endocrine neoplasia 1; Missense/nonsense CM004418; Multiple endocrine neoplasia 1; Missense/nonsense CM970937; Multiple endocrine neoplasia 1; Missense/nonsense CM053980; Multiple endocrine neoplasia 1; Missense/nonsense HM070154; Multiple endocrine neoplasia 1; Missense/nonsense CM981277; Multiple endocrine neoplasia 1; Missense/nonsense CM040456; Hyperparathyroidism ?; Missense/nonsense CM053983; Multiple endocrine neoplasia 1; Missense/nonsense CM035809; Multiple endocrine neoplasia 1; Missense/nonsense CM004419; Multiple endocrine neoplasia 1; Missense/nonsense CM981278; Multiple endocrine neoplasia 1; Missense/nonsense CM065308; Multiple endocrine neoplasia 1; Missense/nonsense CM077292; Multiple endocrine neoplasia 1; Missense/nonsense CM981279; Multiple endocrine neoplasia 1; Missense/nonsense CM970939; Multiple endocrine neoplasia 1; Missense/nonsense CM970938; Multiple endocrine neoplasia 1; Missense/nonsense CM035837; Multiple endocrine neoplasia 1; Missense/nonsense CM053984; Multiple endocrine neoplasia 1; Missense/nonsense CM973233; Multiple endocrine neoplasia 1; Missense/nonsense CM077298; Multiple endocrine neoplasia 1; Missense/nonsense CM990850; Multiple endocrine neoplasia 1; Missense/nonsense CM970940; Multiple endocrine neoplasia 1; Missense/nonsense CM074356; Multiple endocrine neoplasia 1; Missense/nonsense CM993814; Multiple endocrine neoplasia 1; Missense/nonsense CM981280; Multiple endocrine neoplasia 1; Missense/nonsense CM970941; Multiple endocrine neoplasia 1; Missense/nonsense CM002359; Multiple endocrine neoplasia 1; Missense/nonsense CM077294; Multiple endocrine neoplasia 1; Missense/nonsense CM990851; Multiple endocrine neoplasia 1; Missense/nonsense CM074353; Multiple endocrine neoplasia 1; Missense/nonsense CM981281; Multiple endocrine neoplasia 1; Missense/nonsense CM981282; Multiple endocrine neoplasia 1; Missense/nonsense CM067696; Multiple endocrine neoplasia 1; Missense/nonsense CM003682; Multiple endocrine neoplasia 1; Missense/nonsense CM080439; Multiple endocrine neoplasia 1; Missense/nonsense CM970942; Multiple endocrine neoplasia 1; Missense/nonsense CM077601; Multiple endocrine neoplasia 1; Missense/nonsense CM021296; Multiple endocrine neoplasia 1; Missense/nonsense CM981283; Multiple endocrine neoplasia 1; Missense/nonsense CM033920; Multiple endocrine neoplasia 1; Missense/nonsense CM085535; Impaired sensitisation to apoptosis, association with; Missense/nonsense CM004263; Multiple endocrine neoplasia 1; Missense/nonsense CM016109; Multiple endocrine neoplasia 1; Missense/nonsense CM981284; Multiple endocrine neoplasia 1; Missense/nonsense CM021297; Multiple endocrine neoplasia 1; Missense/nonsense CM050662; Multiple endocrine neoplasia 1; Missense/nonsense CM066128; Multiple endocrine neoplasia 1; Missense/nonsense CM055430; Multiple endocrine neoplasia 1; Missense/nonsense CM032597; Multiple endocrine neoplasia 1; Missense/nonsense CM053979; Multiple endocrine neoplasia 1; Missense/nonsense CM077299; Multiple endocrine neoplasia 1; Missense/nonsense CM066126; Multiple endocrine neoplasia 1 ?; Missense/nonsense CM065304; Multiple endocrine neoplasia 1; Missense/nonsense CR065645; Hyperparathyroidism; Regulatory CS067834; Multiple endocrine neoplasia 1; Splicing CS002143; Multiple endocrine neoplasia 1; Splicing CS032700; Multiple endocrine neoplasia 1; Splicing CS025486; Multiple endocrine neoplasia 1; Splicing CS065612; Multiple endocrine neoplasia 1; Splicing CS054905; Multiple endocrine neoplasia 1; Splicing CS004293; Multiple endocrine neoplasia 1; Splicing CS043140; Multiple endocrine neoplasia 1; Splicing CS982265; Multiple endocrine neoplasia 1; Splicing CS005466; Multiple endocrine neoplasia 1; Splicing CS054203; Multiple endocrine neoplasia 1; Splicing CS982267; Multiple endocrine neoplasia 1; Splicing CS982266; Multiple endocrine neoplasia 1; Splicing CS991446; Adrenocortical tumour; Splicing CS054204; Multiple endocrine neoplasia 1; Splicing CS982268; Multiple endocrine neoplasia 1; Splicing CS003705; Multiple endocrine neoplasia 1; Splicing CS991447; Multiple endocrine neoplasia 1; Splicing CS982269; Multiple endocrine neoplasia 1; Splicing CS973732; Multiple endocrine neoplasia 1; Splicing CS075179; Multiple endocrine neoplasia 1; Splicing CS033947; Multiple endocrine neoplasia 1; Splicing CS991448; Multiple endocrine neoplasia 1; Splicing CS991449; Multiple endocrine neoplasia 1; Splicing CS054205; Multiple endocrine neoplasia 1; Splicing CS983969; Multiple endocrine neoplasia 1; Splicing CS054206; Multiple endocrine neoplasia 1; Splicing CS016115; Multiple endocrine neoplasia 1; Splicing CS982270; Multiple endocrine neoplasia 1; Splicing CS004294; Multiple endocrine neoplasia 1; Splicing CS075180; Multiple endocrine neoplasia 1; Splicing CS994251; Multiple endocrine neoplasia 1; Splicing CS055601; Multiple endocrine neoplasia 1; Splicing CS072225; Multiple endocrine neoplasia 1; Splicing CS067499; Hyperparathyroidism; Splicing CS042551; Hyperparathyroidism; Splicing CS054207; Multiple endocrine neoplasia 1; Splicing |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 11) (view all) | 399 EERPGEQSQGTQSQG dbPAF
402 PGEQSQGTQSQGSAL dbPAF 404 EQSQGTQSQGSALQD dbPAF 443 VLHVGWATFLVQSLG dbPAF 448 WATFLVQSLGRFEGQ dbPAF 492 RRGPRRESKPEEPPP dbPAF 548 QVPAPTASPPPEGPV dbPAF
560 GPVLTFQSEKMKGMK dbPAF 588 KLQLTAQSQVQMKKQ dbPAF 598 QMKKQKVSTPSDYTL dbPAF 599 MKKQKVSTPSDYTLS dbPAF |
| Acetylation (count: 1) | 502 EEPPPPKKPALDKGL PLMD |
| Ubiquitination (count: 5) | 120 SSRELVKKVSDVIWN PLMD
315 HKGIASAKTYYRDEH PLMD 4 ****MGLKAAQKTLF PLMD 609 DYTLSFLKRQRKGL* PLMD 8 MGLKAAQKTLFPLRS PLMD |
| Network | Interaction | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| A | B | Source | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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