Gene Gene information from NCBI Gene database.
Entrez ID 5770
Gene name Protein tyrosine phosphatase non-receptor type 1
Gene symbol PTPN1
Synonyms (NCBI Gene)
PTP1B
Chromosome 20
Chromosome location 20q13.13
Summary The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters s
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs16989673 ->G Risk-factor 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
714
miRTarBase ID miRNA Experiments Reference
MIRT003154 hsa-miR-210-3p 2DGEimmunoprecipitaionLuciferase reporter assayMass spectrometryMicroarrayqRT-PCRWestern blot 19826008
MIRT007007 hsa-miR-122-5p Luciferase reporter assay 22807119
MIRT007351 hsa-miR-362-3p Western blot 23280316
MIRT007351 hsa-miR-362-3p Western blot 23280316
MIRT007351 hsa-miR-362-3p Western blot 23280316
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 22282656
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
103
GO ID Ontology Definition Evidence Reference
GO:0003084 Process Positive regulation of systemic arterial blood pressure IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IDA 18074158, 21707536, 22169477
GO:0004725 Function Protein tyrosine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176885 9642 ENSG00000196396
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18031
Protein name Tyrosine-protein phosphatase non-receptor type 1 (EC 3.1.3.48) (Protein-tyrosine phosphatase 1B) (PTP-1B)
Protein function Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII-
PDB 1A5Y , 1AAX , 1BZC , 1BZH , 1BZJ , 1C83 , 1C84 , 1C85 , 1C86 , 1C87 , 1C88 , 1ECV , 1EEN , 1EEO , 1G1F , 1G1G , 1G1H , 1G7F , 1G7G , 1GFY , 1I57 , 1JF7 , 1KAK , 1KAV , 1L8G , 1LQF , 1NL9 , 1NNY , 1NO6 , 1NWE , 1NWL , 1NZ7 , 1OEM , 1OEO , 1OES , 1OET , 1OEU , 1OEV , 1ONY , 1ONZ , 1PA1 , 1PH0 , 1PTT , 1PTU , 1PTV , 1PTY , 1PXH , 1PYN , 1Q1M , 1Q6J , 1Q6M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00102 Y_phosphatase 40 276 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level). {ECO:0000269|PubMed:29043977}.
Sequence
MEMEKEFEQIDKSGSWAAIYQDIRHEASDFPCRVAKLPKNKNRNRYRDVSPFDHSRIKLH
QEDNDYINASLIKMEEAQRSYILTQGPLPNTCGHFWEMVWEQKSRGVVMLNRVMEKGSLK
CAQYWPQKEEKEMIFEDTNLKLTLISEDIKSYYTVRQLELENLTTQETREILHFHYTTWP
DFGVPESPASFLNFLFKVRESGSLSPEHGPVVVHCSAGIGRSGTFCLADTCLLLMDKRKD
PSSVDIKKVLLEMRKFRMGLIQTADQLRFSYLAVIE
GAKFIMGDSSVQDQWKELSHEDLE
PPPEHIPPPPRPPKRILEPHNGKCREFFPNHQWVKEETQEDKDCPIKEEKGSPLNAAPYG
IESMSQDTEVRSRVVGGSLRGAQAASPAKGEPSLPEKDEDHALSYWKPFLVNMCVATVLT
AGAYLCYRFLFNSNT
Sequence length 435
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOINFLAMMATORY SYNDROME Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 9566916
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 29122767
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 24531327
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma CTD_human_DG 24531327
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 28965984
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia BEFREE 30195058
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 39179703 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28403933
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 29929988
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 16505227, 28752048, 28899902
★☆☆☆☆
Found in Text Mining only