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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Insulin resistance, susceptibility to risk factor rs16989673 RCV000014243
PTPN1-related disorder Benign rs35414863, rs74607837 RCV003915808
RCV003936142
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32395869
Adenoma Chromophobe Associate 36618415
Albuminuria Associate 15189365
Anemia Aplastic Associate 39179703
Behcet Syndrome Associate 28166214, 29907633
Blood Coagulation Disorders Associate 25042561
Breast Neoplasms Associate 11007774, 18183590, 18332219, 19435911, 20952588, 23242616, 25590580, 27465552, 28378571, 28492548, 29183848, 36871762
Carcinogenesis Associate 25590580, 38014992
Carcinoma Hepatocellular Associate 26755347, 36618415
Carcinoma Hepatocellular Stimulate 36741874