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PTPN14 protein tyrosine phosphatase, non-receptor type 14 [ Homo sapiens (human) ]

Gene ID: 5784, updated on 6-Jan-2019

Summary

Official Symbol
PTPN14provided by HGNC
Official Full Name
protein tyrosine phosphatase, non-receptor type 14provided by HGNC
Primary source
HGNC:HGNC:9647
See related
Ensembl:ENSG00000152104 MIM:603155
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEZ; PTP36; CATLPH
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
Expression
Ubiquitous expression in skin (RPKM 9.0), kidney (RPKM 5.5) and 23 other tissues See more
Orthologs

Genomic context

See PTPN14 in Genome Data Viewer
Location:
1q32.3-q41
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (214348696..214551681, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (214521640..214725024, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372911 Neighboring gene VISTA enhancer hs2357 Neighboring gene uncharacterized LOC107985263 Neighboring gene SET and MYND domain containing 2 Neighboring gene adaptor related protein complex 3 sigma 1 subunit pseudogene Neighboring gene keratin 18 pseudogene 12 Neighboring gene abhydrolase domain containing 17A pseudogene 3 Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 13 Neighboring gene centromere protein F

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Choanal atresia and lymphedema
MedGen: C3150875 OMIM: 613611 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126803

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coregulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cellular response to cytokine stimulus TAS
Traceable Author Statement
more info
 
lymphangiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tyrosine-protein phosphatase non-receptor type 14
Names
cytoskeletal-associated protein tyrosine phosphatase
protein-tyrosine phosphatase pez
NP_005392.2
XP_016857430.1
XP_024304527.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028036.1 RefSeqGene

    Range
    5001..207986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005401.5NP_005392.2  tyrosine-protein phosphatase non-receptor type 14

    See identical proteins and their annotated locations for NP_005392.2

    Status: REVIEWED

    Source sequence(s)
    AK291641, AL445305, AL603838, AL929236, DA738908
    Consensus CDS
    CCDS1514.1
    UniProtKB/Swiss-Prot
    Q15678
    UniProtKB/TrEMBL
    A8K6H6
    Related
    ENSP00000355923.4, ENST00000366956.9
    Conserved Domains (3) summary
    smart00295
    Location:24220
    B41; Band 4.1 homologues
    cd00047
    Location:9351179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    214348696..214551681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001941.1XP_016857430.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678
    Conserved Domains (3) summary
    smart00295
    Location:24220
    B41; Band 4.1 homologues
    cd00047
    Location:9351179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
  2. XM_024448759.1XP_024304527.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    Conserved Domains (3) summary
    smart00295
    Location:24220
    B41; Band 4.1 homologues
    cd00047
    Location:9351179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)
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