P02545

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	LMNA_HUMAN; P02545;
Entrez ID	4000
GenBank Protein ID	NM_001257374.2; NM_001282624.1; NM_001282625.1; NM_001282626.1; NM_005572.3; NM_170707.3; NM_170708.3;
GenBank Nucleotide ID	NP_001244303.1; NP_001269553.1; NP_001269554.1; NP_001269555.1; NP_005563.1; NP_733821.1; NP_733822.1;
Protein Name	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
Gene Name	LMNA; LMN1
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:2(view all) Functional Description Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).;Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.
Sequence (Fasta)	METPSQRRAT RSGAQASSTP LSPTRITRLQ EKEDLQELND RLAVYIDRVR SLETENAGLR 60 LRITESEEVV SREVSGIKAA YEAELGDARK TLDSVAKERA RLQLELSKVR EEFKELKARN 120 TKKEGDLIAA QARLKDLEAL LNSKEAALST ALSEKRTLEG ELHDLRGQVA KLEAALGEAK 180 KQLQDEMLRR VDAENRLQTM KEELDFQKNI YSEELRETKR RHETRLVEID NGKQREFESR 240 LADALQELRA QHEDQVEQYK KELEKTYSAK LDNARQSAER NSNLVGAAHE ELQQSRIRID 300 SLSAQLSQLQ KQLAAKEAKL RDLEDSLARE RDTSRRLLAE KEREMAEMRA RMQQQLDEYQ 360 ELLDIKLALD MEIHAYRKLL EGEEERLRLS PSPTSQRSRG RASSHSSQTQ GGGSVTKKRK 420 LESTESRSSF SQHARTSGRV AVEEVDEEGK FVRLRNKSNE DQSMGNWQIK RQNGDDPLLT 480 YRFPPKFTLK AGQVVTIWAA GAGATHSPPT DLVWKAQNTW GCGNSLRTAL INSTGEEVAM 540 RKLVRSVTVV EDDEDEDGDD LLHHHHGSHC SSSGDPAEYN LRSRTVLCGT CGQPADKASA 600 SGSGAQVGGP ISSGSSASSV TVTRSYRSVG GSGGGSFGDN LVTRSYLLGN SSPRTQSPQN 660 CSIM 665 Fasta Sequence >P02545\|LMNA; LMN1\|Homo sapiens (Human) METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Emery-dreifuss muscular dystrophy	HEK 293T cells	N	S404	18808171
1	[Reference]: Remarkably, expression of S404A lamin A in primary cells from healthy tissue caused the nuclear abnormalities that are a hallmark of Emery-Dreifuss muscular dystrophy (EDMD) cells

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	Spitzoid tumour
CTD (Curated) (count: 24) (view all)	MESH:C538231 ; Adenocarcinoma of lung MESH:D054537 ; Atrioventricular Block MESH:D002311 ; Cardiomyopathy, Dilated OMIM:212112 ; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM MESH:C537990 ; Charcot-Marie-Tooth disease, Type 2B1 MESH:D019465 ; Craniofacial Abnormalities MESH:D016757 ; Death, Sudden, Cardiac MESH:D005532 ; Foot Deformities, Congenital MESH:D006228 ; Hand Deformities, Congenital MESH:D006327 ; Heart Block MESH:C535852 ; Heart-hand syndrome, Slovenian type MESH:D039682 ; HIV-Associated Lipodystrophy Syndrome MESH:C535898 ; Limb-girdle muscular dystrophy, type 1B MESH:D052496 ; Lipodystrophy, Familial Partial MESH:C535705 ; Mandibuloacral dysplasia with type A lipodystrophy MESH:D049288 ; Muscular Dystrophies, Limb-Girdle MESH:C567708 ; Muscular Dystrophy, Congenital, Lmna-Related MESH:D020389 ; Muscular Dystrophy, Emery-Dreifuss MESH:D011085 ; Polycystic Ovary Syndrome MESH:D011371 ; Progeria MESH:D012594 ; Scleroderma, Localized MESH:D012848 ; Sinoatrial Block MESH:D017180 ; Tachycardia, Ventricular MESH:C536920 ; Tight skin contracture syndrome, lethal
DisGeNet (Curated) (count: 481) (view all)	C0000889; Acanthosis Nigricans C0001339; Acute pancreatitis C0002170; Alopecia C0002962; Angina Pectoris C0003507; Aortic Valve Stenosis C0003811; Cardiac Arrhythmia C0004153; Atherosclerosis C0004238; Atrial Fibrillation C0004239; Atrial Flutter C0005744; Blepharophimosis C0005745; Blepharoptosis C0006663; Calcinosis C0007114; Malignant neoplasm of skin C0007117; Basal cell carcinoma C0007193; Cardiomyopathy, Dilated C0008297; Choanal Atresia C0009681; Anomalous pulmonary artery C0009917; Contracture C0009918; Contracture of joint C0010054; Coronary Arteriosclerosis C0010520; Cyanosis C0011644; Scleroderma C0011849; Diabetes Mellitus C0011860; Diabetes Mellitus, Non-Insulin-Dependent C0013238; Dry Eye Syndromes C0013274; Patent ductus arteriosus C0014390; Entropion C0015300; Exophthalmos C0015672; Fatigue C0015934; Fetal Growth Retardation C0015944; Fetal Membranes, Premature Rupture C0016202; Flatfoot C0016508; Congenital Foot Deformity C0017979; Glycosuria C0018566; Congenital Hand Deformities C0018784; Sensorineural Hearing Loss (disorder) C0018794; Heart Block C0018801; Heart failure C0018802; Congestive heart failure C0018817; Atrial Septal Defects C0019209; Hepatomegaly C0019572; Hirsutism C0020224; Polyhydramnios C0020443; Hypercholesterolemia C0020456; Hyperglycemia C0020459; Hyperinsulinism C0020473; Hyperlipidemia C0020490; Hyperopia C0020534; Orbital separation excessive C0020538; Hypertensive disease C0020608; Hypodontia C0020619; Hypogonadism C0020620; Hypohidrosis C0020676; Hypothyroidism C0020678; Hypotrichosis C0021296; Infant, Small for Gestational Age C0021359; Infertility C0021655; Insulin Resistance C0021775; Intermittent Claudication C0022575; Keratoconjunctivitis Sicca C0022665; Kidney Neoplasm C0022821; Kyphosis deformity of spine C0023787; Lipodystrophy C0024003; Lordosis C0024121; Lung Neoplasms C0025286; Meningioma C0025322; Premature Menopause C0025990; Micrognathism C0026034; Microstomia C0026266; Mitral Valve Insufficiency C0026640; Mouth Neoplasms C0026821; Muscle Cramp C0026827; Muscle hypotonia C0026848; Myopathy C0026850; Muscular Dystrophy C0027051; Myocardial Infarction C0027339; Nail Diseases C0027443; Natal Teeth C0028754; Obesity C0029408; Degenerative polyarthritis C0029456; Osteoporosis C0029463; Osteosarcoma C0031039; Pericardial effusion C0031117; Peripheral Neuropathy C0032460; Polycystic Ovary Syndrome C0033300; Progeria C0033687; Proteinuria C0034012; Delayed Puberty C0034013; Precocious Puberty C0034067; Pulmonary Emphysema C0035229; Respiratory Insufficiency C0035304; Retinal Degeneration C0036420; Localized scleroderma C0037188; Sinoatrial Block C0037286; Skin Neoplasms C0037299; Skin Ulcer C0037301; Skin Wrinkling C0039075; Syndactyly C0040136; Thyroid Neoplasm C0040433; Tooth Crowding C0042514; Tachycardia, Ventricular C0043119; Werner Syndrome C0043325; Xanthomatosis C0043349; Xerophthalmia C0085096; Peripheral Vascular Diseases C0085298; Sudden Cardiac Death C0085611; Atrial arrhythmia C0085612; Ventricular arrhythmia C0085681; Hyperphosphatemia (disorder) C0085684; Foot-drop C0149744; Oral lesion C0151514; Atrophic condition of skin C0151526; Premature Birth C0151576; Elevated creatine kinase C0151686; Growth retardation C0151691; High density lipoprotein decreased C0151699; Intracranial Hemorrhages C0151872; Prothrombin time increased C0152013; Adenocarcinoma of lung (disorder) C0152421; Macrotia C0155733; Atherosclerosis of aorta C0158266; Intervertebral Disc Degeneration C0162298; Joint stiffness C0221032; Familial generalized lipodystrophy C0221204; Lytic lesion C0221357; Brachydactyly C0221365; Double ureter C0222716; Structure of wormian bone C0231246; Failure to gain weight C0231528; Myalgia C0232466; Feeding difficulties C0232513; Premature tooth loss C0232940; Secondary physiologic amenorrhea C0233315; Premature birth of newborn C0234146; Absent reflex C0234958; muscle degeneration C0235357; Tooth hypoplasia C0235659; Reduced fetal movement C0238621; Aminoaciduria C0238669; Aortic root dilatation C0239067; Difficulty walking up stairs C0239174; Late tooth eruption C0239234; Low set ears C0239479; Round face C0240295; Mandibular hypoplasia C0240479; Neck muscle weakness C0240538; Convex nasal ridge C0240635; Byzanthine arch palate C0240733; Peroneal muscle weakness C0240912; Vertical Talus C0240953; Winged scapula C0241005; Creatine phosphokinase serum increased C0241011; Low serum estradiol levels C0241267; Absence of subcutaneous fat C0241358; Increased testosterone C0241703; High pitched voice C0241772; Reflex, Deep Tendon, Absent C0263491; Pili Torti C0263498; Premature canities C0263505; Alopecia universalis C0263625; Subcutaneous calcification C0264133; Acquired flat foot C0264303; Laryngomalacia C0264886; Conduction disorder of the heart C0265610; Congenital clinodactyly C0265783; Congenital hypoplasia of lung C0266054; Premature tooth eruption C0266423; Congenital anomaly of testis C0266786; Short cord C0270254; Hydrops of placenta C0270948; Neurogenic Muscular Atrophy C0271623; Hypogonadotropic hypogonadism C0271650; Impaired glucose tolerance C0271694; Familial partial lipodystrophy C0277828; Late fontanel closure C0278124; Absent tendon reflex C0280089; Carcinoid tumor of lung C0311394; Difficulty walking C0333068; Flexion contracture C0340279; Ventricular hypertrophy C0342491; Small adrenal gland C0344312; White forelock C0345832; Neoplasm of small intestine C0349588; Short stature C0376634; Craniofacial Abnormalities C0399385; Early tooth exfoliation C0406585; Lethal tight skin contracture syndrome (disorder) C0409338; Flexion contracture - elbow C0410189; Muscular Dystrophy, Emery-Dreifuss C0410190; Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) C0410264; Contracture of tendo achilles C0423112; Short palpebral fissure C0423757; Thin skin C0423808; Brachyonychia C0423823; Thin nails C0426433; Pinched nasal tip C0426799; Congenital hypoplasia of clavicle C0426806; Bipartite clavicle C0426811; Pseudoarthrosis of clavicle C0426818; Thin rib C0427063; Shoulder girdle weakness C0427064; Pelvic girdle weakness C0427065; Distal muscle weakness C0427149; Gait, Drop Foot C0428791; Aortic valve calcification C0428977; Bradycardia C0431448; Absent eyebrow C0431483; Simple ear C0432103; Submucous cleft of hard palate C0432291; Mandibuloacral dysostosis C0432355; Hypoplasia of nipple C0442874; Neuropathy C0454555; Hypernasal voice C0456070; Growth delay C0456132; Large fontanelle C0473527; Hypoalphalipoproteinemias C0476403; Electromyogram abnormal C0497247; Increase in blood pressure C0520927; Decreased fertility C0522055; Electrocardiogram abnormal C0541794; Skeletal muscle atrophy C0553706; SERUM PHOSPHATE ELEVATED C0553723; Squamous cell carcinoma of skin C0553730; Calcium pyrophosphate deposition disease C0554972; Large auricle C0557874; Global developmental delay C0558242; Stretched skin C0566620; Nasal voice C0575081; Gait abnormality C0575158; Kyphoscoliosis deformity of spine C0575535; Thin clavicle C0578038; Thin lips C0578682; Madarosis of eyebrow C0587246; Muscle weakness of limb C0595929; Serum cholesterol raised C0595939; Stillbirth C0686353; Muscular Dystrophies, Limb-Girdle C0699743; Congenital muscular dystrophy (disorder) C0700078; Decreased tendon reflex C0728829; Congenital pes cavus C0748691; Shoulder weakness C0796031; Malouf syndrome C0796083; Najjar syndrome C0836924; Thrombocytosis C0853087; Nail abnormality C0854110; Insulin resistant diabetes C0855329; Electrocardiogram change C0856863; Broad-based gait C0857379; Auricular malformation C0857460; Increased number of platelets C0860439; Mottled pigmentation C0870082; Hyperkeratosis C0878787; Growth failure C0917990; Acro-Osteolysis C0919267; ovarian neoplasm C0919718; Calcification of mitral valve C0948896; Primary hypogonadism C1136321; HIV-Associated Lipodystrophy Syndrome C1136382; Sclerocystic Ovaries C1274865; Scleroderma-like secondary cutaneous sclerosis C1280433; Lipoatrophy C1301937; Talipes C1306837; Papillary Renal Cell Carcinoma C1317785; Tooth size discrepancy C1378703; Renal carcinoma C1386048; Intrauterine retardation C1389113; Generalized amyotrophy C1389118; Peroneal muscle atrophy C1449563; Cardiomyopathy, Familial Idiopathic C1450051; Autosomal Recessive Emery-Dreifuss Muscular Dystrophy C1458155; Mammary Neoplasms C1522137; Hypertriglyceridemia result C1691215; Penile hypospadias C1698196; Muscle weakness of upper limb C1704436; Peripheral Arterial Diseases C1720508; Retinal pigment epithelial abnormality C1720859; Familial Partial Lipodystrophy, Type 1 C1720860; Familial Partial Lipodystrophy, Type 2 C1832446; Sparse eyebrow C1832603; EKG abnormalities C1833325; Thin bony cortex C1833762; Soft calvaria C1834405; Nail dysplasia C1834653; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) C1835380; Labial pseudohypertrophy C1835384; Loss of truncal adipose tissue C1835389; Increased intramuscular fat C1835390; Increased intraabdominal fat C1835581; Large protruding ears C1836038; Poor head control C1836451; Muscle atrophy, lower limb, distal C1836767; Proximal lower limb muscle atrophy C1837260; Prominent forehead C1837385; Poor growth C1837463; Narrow face C1837757; Progressive acroosteolysis of the clavicle C1837758; Bird-like facies C1837760; Prominent eyes C1837761; Narrow nasal ridge C1837764; Loss of subcutaneous adipose tissue in limbs C1837770; Sparse hair C1837785; Prominent superficial veins C1839630; Hypotonia, severe C1839653; Decreased cervical spine flexion due to contractures of posterior cervical muscles C1839764; Broad flat nasal bridge C1839829; Short distal phalanges C1842820; Cardiac conduction abnormalities C1843005; Absent eyelashes C1843057; Calf muscle hypertrophy C1843108; Short hands C1843300; Sparse eyelashes C1843479; Neurogenic muscle atrophy, especially in the lower limbs C1843697; Axial muscle weakness C1845112; Hyperkyphosis C1846223; Adrenal hypoplasia C1846228; Absence of pubertal development C1846438; Hypoplastic facial bones C1847425; Abnormal glucose oral tolerance test C1847584; Distal sensory impairment C1847906; Onion bulb formation C1848486; Premature arteriosclerosis C1848490; Protruding eyes C1848570; Large, floppy ears C1848736; Distal amyotrophy C1848760; Increased anterioposterior diameter of chest C1848765; Sparse/absent eyebrows C1848769; Overtubulated long bones C1848771; Prominent superficial vasculature C1848773; Epidermal hyperkeratosis C1849039; Metaphyseal widening C1849121; Thin face C1849300; Widely patent fontanels and sutures C1849367; Nasal bridge wide C1849547; Acro-osteolysis of distal phalanges C1850189; Large pinnae C1850309; Mildly increased creatine kinase C1850530; Flexion contractures of joints C1851792; Aplasia/Hypoplasia of the earlobes C1853242; Midface retrusion C1854154; Charcot-Marie-Tooth disease, Type 2B1 C1854301; Motor delay C1854494; Slow progression C1855062; Large dysplastic ears C1855520; Hyperglycemia, Postprandial C1855665; Ovoid vertebral bodies C1856468; Round, full face C1856542; Prominent scalp veins C1856872; Sloping shoulders C1856963; Fragile nails C1857042; Sparse scalp hair C1857108; Decreased joint mobility C1857130; Hypoplastic mandible condyle C1857657; Decreased subcutaneous adipose tissue C1857665; Aplastic clavicles C1857710; Wizened face C1857829; Heart-hand syndrome, Slovenian type C1858025; Spinal rigidity C1858085; Malar flattening C1858127; Limb-girdle muscle weakness C1858285; Decreased number of large and small myelinated fibers C1858729; Decreased motor NCV C1859778; Postnatal growth retardation C1860121; Decreased testosterone in males C1860838; Large prominent ears C1860844; Thin, sparse hair C1861403; Variable expressivity C1862096; Missing middle phalanges C1862314; Basal cell nevi C1862425; Prominent globes C1862475; Abnormality of retinal pigmentation C1862863; Sparse body hair C1864696; Distal limb muscle weakness due to peripheral neuropathy C1864711; Muscle biopsy shows dystrophic changes C1864897; Cognitive delay C1864954; Hyperinsulinemia, fasting C1864985; Progressive disorder C1866141; Foot dorsiflexor weakness C1866231; Full cheeks C1866862; Highly variable severity C1866863; Lower limb atrophy C1867006; Restricted neck movement due to contractures C1867114; Craniofacial disproportion C1867446; Bulging forehead C1867743; Coronary artery disease, premature C1956346; Coronary Artery Disease C1960469; Left ventricular noncompaction C1968790; Axonal degeneration/regeneration C2265792; Skeletal muscle hypertrophy C2266639; Absence of eyebrows C2315100; Pediatric failure to thrive C2673410; Small midface C2675074; Enlarged peripheral nerves C2711227; Steatohepatitis C2748653; Chubby cheeks C2750035; Emery-Dreifuss Muscular Dystrophy 3 C2750785; MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) C2930821; Keratitis sicca C3279575; Reticulate skin pigmentation C3279601; Reticular pigmentation pattern C3280303; Abnormal hair whorls C3489396; Hypogonadism, Isolated Hypogonadotropic C3494422; Retrognathia C3551430; Sparse or absent eyebrows C3551535; Mitral regurgitation, mild C3552463; Very poor growth C3552713; Talipes foot deformities C3805887; Generalized osteoporosis with pathologic fractures C3806443; Puffy cheeks C3806467; Respiratory insufficiency due to muscle weakness C3806644; Lower limb muscle hypotrophy C3810018; Bilateral coxa valga C3887524; Skin Erosion C4011556; Eyebrow abnormalities C4020830; Fatty acids abnormal C4020843; Abnormal urinary amino-acid findings C4020844; Bullet vertebral body C4020855; Respiratory function loss C4020874; No development of motor milestones C4020875; Mental and motor retardation C4020879; Stippled pigmentation C4020894; Submucous clefting C4020899; Autosomal recessive predisposition C4020957; Abnormal trabecular bone morphology C4021528; Pelvic girdle amyotrophy C4021573; Patchy hypo- and hyperpigmentation C4021642; Abnormality of the Achilles tendon C4021654; Precocious atherosclerosis C4021656; Abnormality of fatty-acid metabolism C4021684; Sclerosis of hand bone C4021726; EMG: myopathic abnormalities C4021776; Abnormality of the voice C4021956; Aplasia/Hypoplasia of the eyebrow C4021998; Lack of skin elasticity C4022001; Abnormality of the cerebral vasculature C4022018; Telangiectasia of the skin C4022125; Aplasia of the phalanges of the 3rd toe C4023577; Abnormality of the intrahepatic bile duct C4024615; Adipose tissue loss C4024641; Enlarged polycystic ovaries C4024993; Aplasia/Hypoplasia of the clavicles C4025078; Tapering pointed ends of distal finger phalanges C4025244; Abnormal atrioventricular conduction C4025270; Arteriosclerosis of small cerebral arteries C4025339; Abnormality of circulating leptin level C4025619; Peripheral axonal atrophy C4025739; Acroosteolysis of distal phalanges (feet) C4025755; Primary atrial arrhythmia C4025850; Increased adipose tissue around the neck C4025868; Increased facial adipose tissue C4072820; Large bregma sutures C4072821; Large, late-closing fontanelle C4072822; Wide bregma sutures C4072849; Scapular weakness C4072885; Increased serum testosterone level C4229090; Small facial bones C4275075; Atypical Werner syndrome C4280264; Premature plaque build-up in arteries C4280268; Underdevelopment of facial bones C4280289; Lesion of oral cavity C4280304; Curvature of digit C4280320; Hypotrophic midface C4280321; Decreased projection of midface C4280503; Premature hardening of arteries C4280505; Hardened artery wall in small cerebral arteries C4280506; Plaque build-up in arteries supplying blood to heart C4280512; Inability to touch chin to chest C4280557; Hypotrophic facial bones C4280558; Flattening of facial bones C4280569; Plaque build-up in arteries C4280581; Aplasia of eyebrows C4280582; Agenesis of eyebrows C4280611; Decreased size of teeth C4280617; Tooth mass arch size discrepancy C4280618; Inadequate arch length for tooth size C4280626; Aplasia of eyelashes C4280627; Failure of development of eyelashes C4280647; Hypertrophy of cheeks C4280648; Hyperplasia of cheeks C4280649; Facial fat hypertrophy C4280650; Facial fat hyperplasia C4280651; Hypotrophic malar bone
GWASdb (count: 8) (view all)	rs12035615; Multiple complex diseases; Null rs10737170; Response to taxane treatment (placlitaxel); lung cancer rs10737170; Parkinson's disease; Parkinson's disease rs6661281; Suicide attempts in bipolar disorder; bipolar disorder rs915179; Suicide attempts in bipolar disorder; bipolar disorder rs915179; Longevity; Null rs915180; Suicide attempts in bipolar disorder; bipolar disorder rs505058; Alzheimer's disease (late onset); Alzheimer's disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 91) (view all)	10 TPSQRRATRSGAQAS dbPAF 107 ARLQLELSKVREEFK dbPAF 12 SQRRATRSGAQASST dbPAF 143 DLEALLNSKEAALST dbPAF 149 NSKEAALSTALSEKR dbPAF 153 AALSTALSEKRTLEG dbPAF 17 TRSGAQASSTPLSPT dbPAF 18 RSGAQASSTPLSPTR dbPAF 19 SGAQASSTPLSPTRI dbPAF 199 DAENRLQTMKEELDF dbPAF 211 LDFQKNIYSEELRET dbPAF 212 DFQKNIYSEELRETK dbPAF 218 YSEELRETKRRHETR dbPAF 22 QASSTPLSPTRITRL dbPAF 224 ETKRRHETRLVEIDN dbPAF 24 SSTPLSPTRITRLQE dbPAF 27 PLSPTRITRLQEKED dbPAF 277 KLDNARQSAERNSNL dbPAF 282 RQSAERNSNLVGAAH dbPAF 295 AHEELQQSRIRIDSL dbPAF 3 ***METPSQRRAT dbPAF 301 QSRIRIDSLSAQLSQ dbPAF 303 RIRIDSLSAQLSQLQ dbPAF 307 DSLSAQLSQLQKQLA dbPAF 326 KLRDLEDSLARERDT dbPAF 390 EEERLRLSPSPTSQR dbPAF 392 ERLRLSPSPTSQRSR dbPAF 394 LRLSPSPTSQRSRGR dbPAF 395 RLSPSPTSQRSRGRA dbPAF 398 PSPTSQRSRGRASSH dbPAF 403 QRSRGRASSHSSQTQ dbPAF 404 RSRGRASSHSSQTQG dbPAF 406 RGRASSHSSQTQGGG dbPAF 407 GRASSHSSQTQGGGS dbPAF 409 ASSHSSQTQGGGSVT dbPAF 414 SQTQGGGSVTKKRKL dbPAF 416 TQGGGSVTKKRKLES dbPAF 423 TKKRKLESTESRSSF dbPAF 424 KKRKLESTESRSSFS dbPAF 426 RKLESTESRSSFSQH dbPAF 428 LESTESRSSFSQHAR dbPAF 429 ESTESRSSFSQHART dbPAF 431 TESRSSFSQHARTSG dbPAF 436 SFSQHARTSGRVAVE dbPAF 437 FSQHARTSGRVAVEE dbPAF 458 FVRLRNKSNEDQSMG dbPAF 463 NKSNEDQSMGNWQIK dbPAF 480 NGDDPLLTYRFPPKF dbPAF 496 LKAGQVVTIWAAGAG dbPAF 5 *METPSQRRATRS dbPAF 505 WAAGAGATHSPPTDL dbPAF 507 AGAGATHSPPTDLVW dbPAF 51 VYIDRVRSLETENAG dbPAF 510 GATHSPPTDLVWKAQ dbPAF 525 NTWGCGNSLRTALIN dbPAF 528 GCGNSLRTALINSTG dbPAF 533 LRTALINSTGEEVAM dbPAF 534 RTALINSTGEEVAMR dbPAF 546 AMRKLVRSVTVVEDD dbPAF 548 RKLVRSVTVVEDDED dbPAF 568 LLHHHHGSHCSSSGD dbPAF 571 HHHGSHCSSSGDPAE dbPAF 572 HHGSHCSSSGDPAEY dbPAF 573 HGSHCSSSGDPAEYN dbPAF 583 PAEYNLRSRTVLCGT dbPAF 585 EYNLRSRTVLCGTCG dbPAF 590 SRTVLCGTCGQPADK dbPAF 599 GQPADKASASGSGAQ dbPAF 601 PADKASASGSGAQVG dbPAF 603 DKASASGSGAQVGGP dbPAF 612 AQVGGPISSGSSASS dbPAF 613 QVGGPISSGSSASSV dbPAF 615 GGPISSGSSASSVTV dbPAF 616 GPISSGSSASSVTVT dbPAF 618 ISSGSSASSVTVTRS dbPAF 619 SSGSSASSVTVTRSY dbPAF 621 GSSASSVTVTRSYRS dbPAF 623 SASSVTVTRSYRSVG dbPAF 625 SSVTVTRSYRSVGGS dbPAF 628 TVTRSYRSVGGSGGG dbPAF 632 SYRSVGGSGGGSFGD dbPAF 636 VGGSGGGSFGDNLVT dbPAF 64 AGLRLRITESEEVVS dbPAF 643 SFGDNLVTRSYLLGN dbPAF 651 RSYLLGNSSPRTQSP dbPAF 652 SYLLGNSSPRTQSPQ dbPAF 657 NSSPRTQSPQNCSIM dbPAF 66 LRLRITESEEVVSRE dbPAF 71 TESEEVVSREVSGIK dbPAF 81 VSGIKAAYEAELGDA dbPAF 94 DARKTLDSVAKERAR dbPAF
Acetylation (count: 30) (view all)	108 RLQLELSKVREEFKE PLMD 114 SKVREEFKELKARNT PLMD 117 REEFKELKARNTKKE PLMD 123 LKARNTKKEGDLIAA PLMD 135 IAAQARLKDLEALLN PLMD 144 LEALLNSKEAALSTA PLMD 155 LSTALSEKRTLEGEL PLMD 171 DLRGQVAKLEAALGE PLMD 180 EAALGEAKKQLQDEM PLMD 181 AALGEAKKQLQDEML PLMD 201 ENRLQTMKEELDFQK PLMD 208 KEELDFQKNIYSEEL PLMD 233 LVEIDNGKQREFESR PLMD 260 EDQVEQYKKELEKTY PLMD 265 QYKKELEKTYSAKLD PLMD 270 LEKTYSAKLDNARQS PLMD 311 AQLSQLQKQLAAKEA PLMD 32 RITRLQEKEDLQELN PLMD 341 SRRLLAEKEREMAEM PLMD 378 MEIHAYRKLLEGEEE PLMD 417 QGGGSVTKKRKLEST PLMD 418 GGGSVTKKRKLESTE PLMD 450 EEVDEEGKFVRLRNK PLMD 457 KFVRLRNKSNEDQSM PLMD 470 SMGNWQIKRQNGDDP PLMD 486 LTYRFPPKFTLKAGQ PLMD 515 PPTDLVWKAQNTWGC PLMD 597 TCGQPADKASASGSG PLMD 78 SREVSGIKAAYEAEL PLMD 97 KTLDSVAKERARLQL PLMD
Ubiquitination (count: 32) (view all)	108 RLQLELSKVREEFKE PLMD 114 SKVREEFKELKARNT PLMD 123 LKARNTKKEGDLIAA PLMD 135 IAAQARLKDLEALLN PLMD 144 LEALLNSKEAALSTA PLMD 155 LSTALSEKRTLEGEL PLMD 171 DLRGQVAKLEAALGE PLMD 180 EAALGEAKKQLQDEM PLMD 181 AALGEAKKQLQDEML PLMD 201 ENRLQTMKEELDFQK PLMD 208 KEELDFQKNIYSEEL PLMD 219 SEELRETKRRHETRL PLMD 233 LVEIDNGKQREFESR PLMD 260 EDQVEQYKKELEKTY PLMD 261 DQVEQYKKELEKTYS PLMD 265 QYKKELEKTYSAKLD PLMD 270 LEKTYSAKLDNARQS PLMD 311 AQLSQLQKQLAAKEA PLMD 319 QLAAKEAKLRDLEDS PLMD 32 RITRLQEKEDLQELN PLMD 378 MEIHAYRKLLEGEEE PLMD 417 QGGGSVTKKRKLEST PLMD 420 GSVTKKRKLESTESR PLMD 450 EEVDEEGKFVRLRNK PLMD 457 KFVRLRNKSNEDQSM PLMD 470 SMGNWQIKRQNGDDP PLMD 486 LTYRFPPKFTLKAGQ PLMD 515 PPTDLVWKAQNTWGC PLMD 597 TCGQPADKASASGSG PLMD 78 SREVSGIKAAYEAEL PLMD 90 AELGDARKTLDSVAK PLMD 97 KTLDSVAKERARLQL PLMD
Sumoylation (count: 16) (view all)	201 ENRLQTMKEELDFQK PLMD 208 KEELDFQKNIYSEEL PLMD 219 SEELRETKRRHETRL PLMD 233 LVEIDNGKQREFESR PLMD 260 EDQVEQYKKELEKTY PLMD 265 QYKKELEKTYSAKLD PLMD 270 LEKTYSAKLDNARQS PLMD 311 AQLSQLQKQLAAKEA PLMD 366 YQELLDIKLALDMEI PLMD 378 MEIHAYRKLLEGEEE PLMD 417 QGGGSVTKKRKLEST PLMD 420 GSVTKKRKLESTESR PLMD 450 EEVDEEGKFVRLRNK PLMD 486 LTYRFPPKFTLKAGQ PLMD 597 TCGQPADKASASGSG PLMD 97 KTLDSVAKERARLQL PLMD
Malonylation (count: 26) (view all)	108 RLQLELSKVREEFKE PLMD 114 SKVREEFKELKARNT PLMD 117 REEFKELKARNTKKE PLMD 122 ELKARNTKKEGDLIA PLMD 123 LKARNTKKEGDLIAA PLMD 135 IAAQARLKDLEALLN PLMD 155 LSTALSEKRTLEGEL PLMD 171 DLRGQVAKLEAALGE PLMD 180 EAALGEAKKQLQDEM PLMD 181 AALGEAKKQLQDEML PLMD 201 ENRLQTMKEELDFQK PLMD 208 KEELDFQKNIYSEEL PLMD 233 LVEIDNGKQREFESR PLMD 261 DQVEQYKKELEKTYS PLMD 265 QYKKELEKTYSAKLD PLMD 270 LEKTYSAKLDNARQS PLMD 316 LQKQLAAKEAKLRDL PLMD 341 SRRLLAEKEREMAEM PLMD 378 MEIHAYRKLLEGEEE PLMD 450 EEVDEEGKFVRLRNK PLMD 457 KFVRLRNKSNEDQSM PLMD 470 SMGNWQIKRQNGDDP PLMD 486 LTYRFPPKFTLKAGQ PLMD 597 TCGQPADKASASGSG PLMD 78 SREVSGIKAAYEAEL PLMD 97 KTLDSVAKERARLQL PLMD
Succinylation (count: 4)	108 RLQLELSKVREEFKE PLMD 114 SKVREEFKELKARNT PLMD 32 RITRLQEKEDLQELN PLMD 97 KTLDSVAKERARLQL PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

P02545	P12830	IntAct
P02545	P13569	IntAct
P02545	P16104	IntAct