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PTPRQ protein tyrosine phosphatase receptor type Q [ Homo sapiens (human) ]

Gene ID: 374462, updated on 15-Feb-2019

Summary

Official Symbol
PTPRQprovided by HGNC
Official Full Name
protein tyrosine phosphatase receptor type Qprovided by HGNC
Primary source
HGNC:HGNC:9679
See related
Ensembl:ENSG00000139304 MIM:603317
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
DFNA73; DFNB84; DFNB84A; PTPGMC1; R-PTP-Q
Summary
This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
Expression
Biased expression in fat (RPKM 1.2), lung (RPKM 1.0) and 9 other tissues See more
Orthologs

Genomic context

See PTPRQ in Genome Data Viewer
Location:
12q21.31
Exon count:
51
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (80424261..80680273)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80838126..81073968)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene otogelin like Neighboring gene RNA, 7SK small nuclear pseudogene 261 Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene myogenic factor 6 Neighboring gene myogenic factor 5

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of fat cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol phosphatase PTPRQ
Names
phosphotidylinositol phosphatase PTPRQ
protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
NP_001138498.1
XP_016874762.1
XP_016874763.1
XP_016874764.1

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_034052.1 RefSeqGene

    Range
    5001..240844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145026.2NP_001138498.1  phosphatidylinositol phosphatase PTPRQ precursor

    Status: REVIEWED

    Source sequence(s)
    ABBA01053496, AC074031, AC083812
    Consensus CDS
    CCDS73501.1
    UniProtKB/TrEMBL
    A0A087WZU1
    Related
    ENSP00000495607.1, ENST00000644991.1
    Conserved Domains (6) summary
    smart00060
    Location:12451324
    FN3; Fibronectin type 3 domain
    smart00194
    Location:20022258
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:20302258
    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 ...
    cd00063
    Location:56150
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15401618
    fn3; Fibronectin type III domain
    cl06408
    Location:17481926
    UP_III_II; Uroplakin IIIb, IIIa and II

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_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    80424261..80680273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019274.1XP_016874763.1  phosphatidylinositol phosphatase PTPRQ isoform X2

  2. XM_017019275.1XP_016874764.1  phosphatidylinositol phosphatase PTPRQ isoform X3

  3. XM_017019273.1XP_016874762.1  phosphatidylinositol phosphatase PTPRQ isoform X1

RNA

  1. XR_001748688.1 RNA Sequence

  2. XR_001748689.1 RNA Sequence

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