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TPTE transmembrane phosphatase with tensin homology [ Homo sapiens (human) ]

Gene ID: 7179, updated on 7-Oct-2018

Summary

Official Symbol
TPTEprovided by HGNC
Official Full Name
transmembrane phosphatase with tensin homologyprovided by HGNC
Primary source
HGNC:HGNC:12023
See related
Ensembl:ENSG00000274391 MIM:604336; Vega:OTTHUMG00000074127
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
CT44; PTEN2
Summary
This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression
Restricted expression toward testis (RPKM 57.8) See more
Orthologs

Genomic context

See TPTE in Genome Data Viewer
Location:
21p11.2
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (10521514..10606270)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (10906741..10990920, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 7 pseudogene Neighboring gene BAGE family member 2 Neighboring gene histone-lysine N-methyltransferase 2C Neighboring gene cytochrome c, somatic pseudogene 41 Neighboring gene solute carrier family 25 member 15 pseudogene 4 Neighboring gene immunoglobulin heavy variable 1/OR21-1 (non-functional)

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of transmembrane phosphatase with tensin homology (TPTE) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PIPs at the Golgi membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the Golgi membrane, organism-specific biosystemAt the Golgi membrane, phosphatidylinositol 4-phosphate (PI4P) is primarily generated from phosphorylation of phosphatidylinositol (PI). Other phosphoinositides are also generated by the action of v...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine/serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
putative tyrosine-protein phosphatase TPTE
Names
PTEN-related tyrosine phosphatase
cancer/testis antigen 44
tensin, putative protein-tyrosine phosphatase
tumor antigen BJ-HCC-5
NP_001277153.1
NP_954868.1
NP_954869.1
NP_954870.2

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_034032.1 RefSeqGene

    Range
    5001..89757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290224.1NP_001277153.1  putative tyrosine-protein phosphatase TPTE isoform delta

    See identical proteins and their annotated locations for NP_001277153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. The encoded protein (delta) has a shorter N-terminus, compared to isoform alpha.
    Source sequence(s)
    AF254982, AF254983, AF495908, AL833345, AY219888, BC028719
    Consensus CDS
    CCDS77617.1
    UniProtKB/Swiss-Prot
    P56180
    Related
    ENSP00000483087.1, OTTHUMP00000276142, ENST00000612746.1, OTTHUMT00000157415
    Conserved Domains (2) summary
    pfam10409
    Location:271401
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    cl21483
    Location:168256
    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 ...
  2. NM_199259.3NP_954868.1  putative tyrosine-protein phosphatase TPTE isoform beta

    See identical proteins and their annotated locations for NP_954868.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding exon, compared to variant 1. The resulting protein (isoform beta) is missing an internal segment when compared to isoform alpha.
    Source sequence(s)
    AF254982, AF254983, AF495908, AL833345, BC028719
    Consensus CDS
    CCDS74772.1
    UniProtKB/Swiss-Prot
    P56180
    Related
    ENSP00000482040.1, OTTHUMP00000276138, ENST00000622113.4, OTTHUMT00000157412
    Conserved Domains (2) summary
    smart00404
    Location:288376
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    pfam10409
    Location:391521
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
  3. NM_199260.3NP_954869.1  putative tyrosine-protein phosphatase TPTE isoform gamma

    See identical proteins and their annotated locations for NP_954869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform gamma) is missing an internal segment when compared to isoform alpha.
    Source sequence(s)
    AF254982, AF254983, AF495908, AL833345, AY219887, BC028719
    Consensus CDS
    CCDS74773.1
    UniProtKB/Swiss-Prot
    P56180
    Related
    ENSP00000482488.1, OTTHUMP00000276141, ENST00000427445.6, OTTHUMT00000157414
    Conserved Domains (3) summary
    smart00404
    Location:268356
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    pfam10409
    Location:371501
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    cl09326
    Location:37140
    MATE_like; Multidrug and toxic compound extrusion family and similar proteins
  4. NM_199261.3NP_954870.2  putative tyrosine-protein phosphatase TPTE isoform alpha

    See identical proteins and their annotated locations for NP_954870.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (alpha).
    Source sequence(s)
    AF254982, AF254983, AF495908, AK314285, AL833345, BC028719
    Consensus CDS
    CCDS74771.1
    UniProtKB/Swiss-Prot
    P56180
    Related
    ENSP00000484403.1, OTTHUMP00000276140, ENST00000618007.4, OTTHUMT00000157413
    Conserved Domains (2) summary
    smart00404
    Location:306394
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    pfam10409
    Location:409539
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    10521514..10606270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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