P60484

※ Protein Information

Tag	Content
UniProt Accession	PTEN_HUMAN; P60484;
Entrez ID	5728
GenBank Protein ID	NM_000314.6; NM_001304717.2; NM_001304718.1;
GenBank Nucleotide ID	NP_000305.3; NP_001291646.2; NP_001291647.1;
Protein Name	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN (EC 3.1.3.16) (EC 3.1.3.48) (EC 3.1.3.67) (Mutated in multiple advanced cancers 1) (Phosphatase and tensin homolog)
Gene Name	PTEN; MMAC1; TEP1
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphatase activity (view all) Functional Description Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.;Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.
Sequence (Fasta)	MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK 60 HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA 120 AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY 180 LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY 240 FEFPQPLPVC GDIKVEFFHK QNKMLKKDKM FHFWVNTFFI PGPEETSEKV ENGSLCDQEI 300 DSICSIERAD NDKEYLVLTL TKNDLDKANK DKANRYFSPN FKVKLYFTKT VEEPSNPEAS 360 SSTSVTPDVS DNEPDHYRYS DTTDSDPENE PFDEDQHTQI TKV 404 Fasta Sequence >P60484\|PTEN; MMAC1; TEP1\|Homo sapiens (Human) MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQITKV

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Methylation	Acute lymphoblastic leukaemia		D		24273277
1	[Reference]: the methylation levels of PTEN gene in the co-infected group were significantly decreased (P<0.05) while the methylation levels of hTERT gene significantly increased (P<0.05)
2	Methylation	Glioblastoma		D		23977117; 3747204
2	[Reference]: The nTBVs of the MGMT methylation-negative group (mean 9.5?7.5) were significantly higher than those of the MGMT methylation-positive group (mean 5.4?1.8) (p=.046). In the analysis of EGFR expression-positive group, the nTBVs of the subgroup with loss of PTEN gene expression (mean: 10.3?8.1) were also significantly higher than those of the subgroup without loss of PTEN gene expression (mean: 5.6?2.3) (p=.046). Ki-67 labeling index indicated significant positive correlation with the nTBV of the tumor (p=.01)
3	Phosphorylation	Acute myeloid leukaemia/Acute myelogenous leukemia		P		15297415
3	[Reference]: Elevated S-phase kinase-associated protein 2 protein expression in acute myelogenous leukemia: its association with constitutive phosphorylation of phosphatase and tensin homologue protein and poor prognosis.
4	Phosphorylation	Fibromyomatous uteri		U		17097286
4	[Reference]: Phosphorylation of PTEN (phosphatase and tensin homologue deleted on chromosome ten) protein is enhanced in human fibromyomatous uteri.
5	Phosphorylation	Lymphocytic leukemia		U		20660292; 24278390
5	[Reference]: recent studies have demonstrated that phosphorylation levels of PTEN are significantly higher in malignant leukemia cells than in normal B cells; Although isolated malignant B cells collected from CLL patients and purified normal B cells from age-matched healthy controls presented similar PTEN protein expression levels, we found that CLL cells displayed significantly higher phosphorylated PTEN than normal controls
6	Methylation	Ovarian cancer/carcinoma		U		23933187
6	[Reference]: We demonstrated that intratumoral injection of Chi-29b chimera significantly inhibited the growth of xenograft OVCAR-3 tumors through downregulating PTEN methylation
7	Phosphorylation	Glioblastoma		C		24346432
7	[Reference]: EGFR phosphorylation was increased only in LCM-enriched tumor specimens carrying EGFR mutations. Phosphorylated and total PTEN, which is highly expressed in normal brain, was reduced only in LCM-enriched tumor specimens with either PTEN mutation or loss in PTEN copy number, with no differences observed in non-microdissected samples.
8	Tyrosine Phosphorylation	Glioblastoma	tumor tissue	P	Y240	22891331
8	[Reference]: Here we demonstrate that the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) tumor suppressor is frequently phosphorylated at a conserved tyrosine residue, Y240, in GBM clinical samples
9	Tyrosine Phosphorylation	Glioblastoma		U	Y240	22891331
9	[Reference]: Phosphorylation of Y240 is associated with shortened overall survival and resistance to EGFR inhibitor therapy in GBM patients and plays an active role in mediating resistance to EGFR inhibition in vitro.
10	Serine Phosphorylation	Lymphocytic leukemia		U	S370	20576813
10	[Reference]: However, PTEN was highly phosphorylated at Ser-370, Ser-380, Thr-382, and Ser-385 in CLL samples, whereas PTEN phosphorylation at these sites was minimal or undetectable in healthy donor samples
11	Serine Phosphorylation	Lymphocytic leukemia		U	S380	20576813
11	[Reference]: However, PTEN was highly phosphorylated at Ser-370, Ser-380, Thr-382, and Ser-385 in CLL samples, whereas PTEN phosphorylation at these sites was minimal or undetectable in healthy donor samples
12	Serine Phosphorylation	Gastric cancer	GES-1 cells	U	S380	22521126
12	[Reference]: Moreover, further analysis of data on Western blots revealed that the PTEN phosphorylation and PTEN ratio was higher in gastric cancer cell lines than that of non-malignant GES-1 cells
13	Threonine Phosphorylation	Lymphocytic leukemia		U	T382	20576813
13	[Reference]: However, PTEN was highly phosphorylated at Ser-370, Ser-380, Thr-382, and Ser-385 in CLL samples, whereas PTEN phosphorylation at these sites was minimal or undetectable in healthy donor samples
14	Serine Phosphorylation	Lymphocytic leukemia		U	S385	20576813
14	[Reference]: However, PTEN was highly phosphorylated at Ser-370, Ser-380, Thr-382, and Ser-385 in CLL samples, whereas PTEN phosphorylation at these sites was minimal or undetectable in healthy donor samples

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	glioma, prostate, endometrial harmartoma, glioma, prostate, endometrial Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome
CTD (Curated) (count: 58) (view all)	MESH:D000015 ; Abnormalities, Multiple MESH:D000230 ; Adenocarcinoma MESH:D018248 ; Adenoma, Liver Cell MESH:D015858 ; Anisometropia MESH:D001249 ; Asthma MESH:D001321 ; Autistic Disorder MESH:D001943 ; Breast Neoplasms MESH:D002277 ; Carcinoma MESH:D003528 ; Carcinoma, Adenoid Cystic MESH:D006528 ; Carcinoma, Hepatocellular MESH:D002292 ; Carcinoma, Renal Cell MESH:C535575 ; Carcinoma, squamous cell of head and neck MESH:D002471 ; Cell Transformation, Neoplastic MESH:D018281 ; Cholangiocarcinoma MESH:D019465 ; Craniofacial Abnormalities MESH:D002658 ; Developmental Disabilities MESH:D018450 ; Disease Progression MESH:D004714 ; Endometrial Hyperplasia MESH:D016889 ; Endometrial Neoplasms MESH:D005234 ; Fatty Liver MESH:D005910 ; Glioma MESH:D006223 ; Hamartoma Syndrome, Multiple MESH:D006391 ; Hemangioma MESH:D006973 ; Hypertension MESH:D006984 ; Hypertrophy MESH:D007333 ; Insulin Resistance MESH:D008607 ; Intellectual Disability MESH:D007805 ; Language Development Disorders MESH:D044542 ; LEOPARD Syndrome MESH:D007938 ; Leukemia MESH:D008067 ; Lipoma MESH:D008068 ; Lipomatosis MESH:D008133 ; Long QT Syndrome MESH:D008175 ; Lung Neoplasms MESH:D008223 ; Lymphoma MESH:C565342 ; Macrocephaly Autism Syndrome MESH:D008545 ; Melanoma OMIM:155600 ; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 MESH:D008579 ; Meningioma MESH:C537443 ; Meningioma, familial MESH:D019957 ; Motor Skills Disorders MESH:D015428 ; Myocardial Reperfusion Injury MESH:C538339 ; Nasopharyngeal carcinoma MESH:D009361 ; Neoplasm Invasiveness MESH:D009362 ; Neoplasm Metastasis MESH:D065886 ; Neurodevelopmental Disorders MESH:D010051 ; Ovarian Neoplasms MESH:D010190 ; Pancreatic Neoplasms MESH:D017689 ; Polydactyly MESH:D019048 ; Prostatic Intraepithelial Neoplasia MESH:D011471 ; Prostatic Neoplasms MESH:D016715 ; Proteus Syndrome MESH:D015427 ; Reperfusion Injury MESH:D012751 ; Sezary Syndrome MESH:D012871 ; Skin Diseases MESH:D055752 ; Small Cell Lung Carcinoma MESH:C572845 ; Thyroid cancer, follicular MESH:C564751 ; VACTERL Association With Hydrocephalus
HGMD (count: 226) (view all)	CP995110; Bannayan-Riley-Ruvalcaba syndrome; Complex rearrangements CD075524; Cowden disease; Small deletions CD991851; Bannayan-Riley-Ruvalcaba syndrome; Small deletions CD982915; Bannayan-Zonana syndrome; Small deletions CD075525; Cowden disease; Small deletions CD020869; Cowden disease; Small deletions CD033224; Cowden disease; Small deletions CD075526; Bannayan-Riley-Ruvalcaba syndrome; Small deletions CD982913; Cowden disease; Small deletions CD033720; Cowden disease; Small deletions CD043800; Cowden disease; Small deletions CD075527; Cowden disease; Small deletions CD982912; Cowden disease; Small deletions CD033225; Cowden disease; Small deletions CD982916; Juvenile polyposis coli; Small deletions CD075528; Bannayan-Riley-Ruvalcaba syndrome; Small deletions CD020868; Cowden disease; Small deletions CD075529; PTEN hamartoma-tumour syndrome; Small deletions CD992558; Cowden disease; Small deletions CD982917; Cowden disease; Small deletions CD043799; Cowden disease; Small deletions CD972423; Cowden disease; Small deletions CD075530; Cowden disease; Small deletions CD023275; Proteus syndrome; Small deletions CD075531; PTEN hamartoma-tumour syndrome; Small deletions CD041930; Cowden disease; Small deletions CD004539; Cowden disease; Small deletions CD004540; Cowden disease; Small deletions CD983505; Cowden disease; Small deletions CD073689; Cowden disease; Small deletions CD992557; Cowden disease; Small deletions CD972422; Cowden disease; Small deletions CD972424; Cowden disease; Small deletions CD982914; Cowden disease; Small deletions CD993696; Bannayan-Riley-Ruvalcaba syndrome; Small deletions CD011189; Cowden disease; Small deletions CD031878; PTEN hamartoma-tumour syndrome; Small deletions CD003200; Juvenile polyposis coli; Small deletions CD033554; Lhermitte-Duclos disease; Small deletions CG084664; Cowden disease; Gross deletions CG984438; Bannayan-Zonana syndrome; Gross deletions CG084663; Cowden disease; Gross deletions CG984439; Squamous cell carcinoma; Gross deletions CG084661; Cowden disease; Gross deletions CG084662; Cowden disease; Gross deletions CG984440; Complex atypical hyperplasia; Gross deletions CG035306; Bannayan-Riley-Ruvalcaba syndrome; Gross deletions CG035307; Bannayan-Riley-Ruvalcaba syndrome; Gross deletions CG035308; Bannayan-Riley-Ruvalcaba syndrome; Gross deletions CG973528; Bannayan-Riley-Ruvalcaba syndrome; Gross deletions CG984441; Cowden disease; Gross deletions CG056920; Juvenile polyposis coli; Gross deletions CX992109; Bannayan-Riley-Ruvalcaba syndrome; Small indels CX983284; Cowden disease; Small indels CX984035; Bannayan-Zonana syndrome; Small indels CI077458; Cowden disease; Small insertions CI056891; Hyperplastic polyps and tubular adenomas; Small insertions CI972688; Cowden disease; Small insertions CI075685; PTEN hamartoma-tumour syndrome; Small insertions CI994506; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI092074; Cowden disease; Small insertions CI972691; Cowden disease; Small insertions CI983203; Cowden disease; Small insertions CI022298; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI983204; Cowden disease; Small insertions CI067253; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI071452; Autism spectrum disorder and macrocephaly; Small insertions CI983205; Cowden disease; Small insertions CI984161; Cowden disease; Small insertions CI033736; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI075686; PTEN hamartoma-tumour syndrome; Small insertions CI075687; PTEN hamartoma-tumour syndrome; Small insertions CI983201; Cowden disease; Small insertions CI000626; Cowden disease; Small insertions CI033580; Cowden disease; Small insertions CI004544; Cowden disease; Small insertions CI075688; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI972690; Cowden disease; Small insertions CI984160; Cowden disease; Small insertions CI034487; Cowden disease; Small insertions CI994649; Breast cancer, lower age of diagnosis, assoc. with; Small insertions CI004327; Cowden disease; Small insertions CI043805; Cowden disease; Small insertions CI067254; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI983202; Cowden disease; Small insertions CI033737; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CI993700; Cowden disease; Small insertions CI075689; PTEN hamartoma-tumour syndrome; Small insertions CI983200; Cowden disease; Small insertions CI972689; Cowden disease; Small insertions CI067255; Bannayan-Riley-Ruvalcaba syndrome; Small insertions CM971268; Cowden disease; Missense/nonsense CM033664; Cowden disease; Missense/nonsense CM993669; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM991079; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM014083; Proteus-like syndrome; Missense/nonsense CM981665; Juvenile polyposis coli; Missense/nonsense CM004280; Cowden disease; Missense/nonsense CM083057; Cowden disease; Missense/nonsense CM090865; Developmental delay and macrocephaly; Missense/nonsense CM033665; Cowden disease; Missense/nonsense CM043772; Cowden disease; Missense/nonsense CM013961; Macrocephaly, ventriculomegaly, VATER association; Missense/nonsense CM981666; Cowden disease; Missense/nonsense CM981667; Bannayan-Zonana syndrome; Missense/nonsense CM061927; Proteus syndrome; Missense/nonsense CM043773; Cowden disease ?; Missense/nonsense CM022240; Breast cancer; Missense/nonsense CM022241; Breast cancer; Missense/nonsense CM981668; Cowden disease; Missense/nonsense CM032997; Lhermitte-Duclos disease; Missense/nonsense CM033666; Cowden disease; Missense/nonsense CM051214; Autism spectrum disorder and macrocephaly; Missense/nonsense CM983500; Cowden disease; Missense/nonsense CM020754; Cowden disease; Missense/nonsense CM992426; Cowden disease; Missense/nonsense CM991080; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM074466; PTEN hamartoma-tumour syndrome; Missense/nonsense CM971269; Cowden disease; Missense/nonsense CM014084; Proteus syndrome; Missense/nonsense CM981669; Cowden disease; Missense/nonsense CM090488; Neurodevelopmental disorders and macrocephaly without autism; Missense/nonsense CM001318; Multiple cancers; Missense/nonsense CM971270; Cowden disease; Missense/nonsense CM020755; Cowden disease; Missense/nonsense CM971271; Cowden disease; Missense/nonsense CM041823; Cowden disease; Missense/nonsense CM971272; Cowden disease; Missense/nonsense CM971273; Cowden disease; Missense/nonsense CM991081; Cowden disease; Missense/nonsense CM981670; Cowden disease; Missense/nonsense CM045431; Cowden disease; Missense/nonsense CM074468; PTEN hamartoma-tumour syndrome; Missense/nonsense CM063078; PTEN hamartoma-tumour syndrome; Missense/nonsense CM022242; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM064180; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM991082; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM004336; Cowden disease; Missense/nonsense CM983501; Cowden disease; Missense/nonsense CM033667; Cowden disease; Missense/nonsense CM983502; Cowden disease / Sjogren's syndrome; Missense/nonsense CM032998; Cowden disease; Missense/nonsense CM090863; Autism spectrum disorders, developmental delay and macrocephaly; Missense/nonsense CM971274; Cowden disease; Missense/nonsense CM001319; Multiple cancers; Missense/nonsense CM993670; Cowden disease; Missense/nonsense CM981671; Cowden disease; Missense/nonsense CM971275; Cowden disease; Missense/nonsense HM971504; Cowden disease; Missense/nonsense CM074465; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM074467; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM090486; Neurodevelopmental disorders and macrocephaly with autism; Missense/nonsense CM033668; Cowden disease; Missense/nonsense CM020756; Cowden disease; Missense/nonsense CM033669; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM013786; Cowden disease; Missense/nonsense HM971505; Cowden disease; Missense/nonsense CM074469; PTEN hamartoma-tumour syndrome; Missense/nonsense CM043774; Cowden disease; Missense/nonsense CM971276; Cowden disease; Missense/nonsense CM041824; Cowden disease; Missense/nonsense CM090866; Developmental delay and macrocephaly; Missense/nonsense CM014085; Proteus syndrome; Missense/nonsense CM981672; Bannayan-Zonana syndrome; Missense/nonsense CM056377; Cowden disease; Missense/nonsense CM084939; Cowden disease; Missense/nonsense CM971277; Cowden disease; Missense/nonsense CM023439; Multiple cancers; Missense/nonsense CM051215; Autism spectrum disorder and macrocephaly; Missense/nonsense CM981673; Cowden disease; Missense/nonsense CM991083; Bannayan-Riley-Ruvalcaba syndrome; Missense/nonsense CM051216; Autism spectrum disorder and macrocephaly; Missense/nonsense CM981674; Bannayan-Zonana syndrome; Missense/nonsense CM090487; Neurodevelopmental disorders and macrocephaly with autism; Missense/nonsense CM981675; Cowden disease; Missense/nonsense CM033670; Cowden disease; Missense/nonsense CM981676; Cowden disease; Missense/nonsense CM992427; Cowden disease; Missense/nonsense CM033671; Cowden disease; Missense/nonsense CM071949; Autism spectrum disorder and macrocephaly; Missense/nonsense CM971278; Cowden disease; Missense/nonsense CM004524; Cowden disease; Missense/nonsense CM074470; Cowden disease; Missense/nonsense CM971279; Cowden disease; Missense/nonsense CM043775; Cowden disease; Missense/nonsense CM971280; Cowden disease; Missense/nonsense CR075267; Cowden disease; Regulatory CR032097; Cowden disease; Regulatory CR032094; Cowden disease; Regulatory CR032089; Cowden disease; Regulatory CR032095; Cowden disease; Regulatory CR032090; Cowden disease; Regulatory CR075268; Cowden disease; Regulatory CR032091; Cowden disease; Regulatory CR032092; Cowden disease; Regulatory CR032093; Cowden disease; Regulatory CR032096; Cowden disease; Regulatory CR032098; Cowden disease; Regulatory CR033149; Diabetes, type 2, association with; Regulatory CS982330; Cowden disease; Splicing CS013829; Cowden disease; Splicing CS002683; Cowden disease; Splicing CS991490; Bannayan-Riley-Ruvalcaba syndrome; Splicing CS982331; Cowden disease; Splicing CS992480; Cowden disease; Splicing CS982332; Cowden disease; Splicing CS971885; Cowden disease; Splicing CS002684; Bannayan-Zonana syndrome; Splicing CS075218; PTEN hamartoma-tumour syndrome; Splicing CM031337; Cowden disease; Splicing CS090864; Autism spectrum disorders, developmental delay and macrocephaly; Splicing CS090867; Developmental delay and macrocephaly; Splicing CS993675; Cowden disease; Splicing CS010097; Bannayan-Riley-Ruvalcaba syndrome; Splicing CS991491; Bannayan-Riley-Ruvalcaba syndrome; Splicing CS043793; Cowden disease; Splicing CS982333; Juvenile polyposis coli; Splicing CS004841; PTEN hamartoma-tumour syndrome; Splicing CS002685; Cowden disease; Splicing CS992481; Cowden disease; Splicing CS982334; Cowden disease; Splicing CS090868; Developmental delay and macrocephaly; Splicing CS005497; Cowden disease; Splicing CS033685; Bannayan-Riley-Ruvalcaba syndrome; Splicing CS043794; Cowden disease; Splicing CS041892; Cowden disease; Splicing
GWASdb (count: 8) (view all)	rs1903858; Type 2 diabetes; type 2 diabetes mellitus rs1234225; Type 2 diabetes; type 2 diabetes mellitus rs1234224; Type 2 diabetes; type 2 diabetes mellitus rs12357281; Urinary metabolites; kidney disease rs12242772; Cholesterol, total; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs12242772; HDL cholesterol; cholesterol ester storage disease\|cholesterol embolism\|coronary artery disease rs2248293; Type 2 diabetes; type 2 diabetes mellitus rs2673832; HIV-1 viral setpoint; Human immunodeficiency virus infectious disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 31) (view all)	113 EDLDQWLSEDDNHVA dbPAF 138 TGVMICAYLLHRGKF dbPAF 155 AQEALDFYGEVRTRD dbPAF 174 TIPSQRRYVYYYSYL dbPAF 176 PSQRRYVYYYSYLLK dbPAF 177 SQRRYVYYYSYLLKN dbPAF 178 QRRYVYYYSYLLKNH dbPAF 179 RRYVYYYSYLLKNHL dbPAF 180 RYVYYYSYLLKNHLD dbPAF 227 LKVKIYSSNSGPTRR dbPAF 229 VKIYSSNSGPTRRED dbPAF 232 YSSNSGPTRREDKFM dbPAF 240 RREDKFMYFEFPQPL dbPAF 27 GFDLDLTYIYPNIIA dbPAF 294 SEKVENGSLCDQEID dbPAF 302 LCDQEIDSICSIERA dbPAF 305 QEIDSICSIERADND dbPAF 315 RADNDKEYLVLTLTK dbPAF 336 NKDKANRYFSPNFKV dbPAF 362 SNPEASSSTSVTPDV dbPAF 366 ASSSTSVTPDVSDNE dbPAF 370 TSVTPDVSDNEPDHY dbPAF 377 SDNEPDHYRYSDTTD dbPAF 380 EPDHYRYSDTTDSDP dbPAF 382 DHYRYSDTTDSDPEN dbPAF 383 HYRYSDTTDSDPENE dbPAF 385 RYSDTTDSDPENEPF dbPAF 398 PFDEDQHTQITKV dbPAF 401 EDQHTQITKV*** dbPAF 46 AERLEGVYRNNIDDV dbPAF 68 HKNHYKIYNLCAERH dbPAF
Acetylation (count: 4)	125 HVAAIHCKAGKGRTG PLMD 128 AIHCKAGKGRTGVMI PLMD 402 DQHTQITKV**** PLMD 6 MTAIIKEIVSRNK PLMD
Ubiquitination (count: 4)	13 KEIVSRNKRRYQEDG PLMD 289 GPEETSEKVENGSLC PLMD 6 **MTAIIKEIVSRNK PLMD 80 ERHYDTAKFNCRVAQ PLMD
Sumoylation (count: 3)	254 LPVCGDIKVEFFHKQ PLMD 266 HKQNKMLKKDKMFHF PLMD 289 GPEETSEKVENGSLC PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

AF203691.1	P60484	IntAct
O14745	P60484	HPRD; MINT
O60307	P60484	HPRD; IntAct
P03950	P60484	HPRD; IntAct
P04637	P60484	HPRD
P05060	P60484	HPRD; IntAct; MINT
P09619	P60484	MINT
P10275	P60484	HPRD
P11021	P60484	IntAct
P13693	P60484	IntAct
P19784	P60484	HPRD
P30260	P60484	IntAct
P31749	P60484	HPRD; MINT
P35226	P60484	MINT
P37802	P60484	IntAct
P42229	P60484	MINT
P42685	P60484	IntAct
P43487	P60484	IntAct
P46934	P60484	IntAct
P49023	P60484	HPRD
P57721	P60484	IntAct
P60484	P62136	IntAct;HPRD
P60484	P63279	HPRD
P60484	P68036	HPRD
P60484	P68400	HPRD
P60484	P69905	HPRD; IntAct; MINT
P60484	Q01469	IntAct
P60484	Q03135	HPRD; MINT
P60484	Q06830	MINT
P60484	Q12959	HPRD
P60484	Q14764	HPRD
P60484	Q15599	HPRD; MINT
P60484	Q15831	HPRD
P60484	Q4G0X9	IntAct
P60484	Q5TCQ9	MINT;HPRD
P60484	Q6P0Q8	HPRD
P60484	Q7L5N1	HPRD; IntAct; MINT
P60484	Q86UL8	HPRD
P60484	Q93084	IntAct
P60484	Q96PU4	IntAct
P60484	Q9BVJ6	HPRD; IntAct; MINT
P60484	Q9UJX3	IntAct
P60484	Q9UJX4	IntAct
P60484	Q9UJX5	IntAct
P60484	Q9Y2H9	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction