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PTPRK protein tyrosine phosphatase receptor type K [ Homo sapiens (human) ]

Gene ID: 5796, updated on 5-Mar-2024

Summary

Official Symbol
PTPRKprovided by HGNC
Official Full Name
protein tyrosine phosphatase receptor type Kprovided by HGNC
Primary source
HGNC:HGNC:9674
See related
Ensembl:ENSG00000152894 MIM:602545; AllianceGenome:HGNC:9674
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
R-PTP-kappa
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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 13.7) and 24 other tissues See more
Orthologs
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Genomic context

Location:
6q22.33
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (127968785..128520599, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (129157761..129713738, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (128289930..128841744, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901400 Neighboring gene thymocyte selection associated Neighboring gene MPRA-validated peak6119 silencer Neighboring gene mitochondrial ribosomal protein S17 pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr6:128343084-128343585 Neighboring gene PTPRK antisense RNA 1 Neighboring gene uncharacterized LOC124900216 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:128446823-128447021 Neighboring gene Sharpr-MPRA regulatory region 6879 Neighboring gene NANOG hESC enhancer GRCh37_chr6:128605097-128605598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:128840918-128841511 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:128841512-128842106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:128901198-128901760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:128901761-128902322 Neighboring gene small nucleolar RNA U13 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study for age-related hearing impairment in the Saami.
EBI GWAS Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of PTPRK PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp686C2268, DKFZp779N1045

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables gamma-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane receptor protein tyrosine phosphatase activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in leading edge membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
receptor-type tyrosine-protein phosphatase kappa
Names
dJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappa
protein-tyrosine phosphatase kappa
protein-tyrosine phosphatase, receptor type, kappa
NP_001129120.1
NP_001278910.1
NP_001278911.1
NP_001278912.1
NP_001278913.1
NP_002835.2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001135648.3NP_001129120.1  receptor-type tyrosine-protein phosphatase kappa isoform a precursor

    See identical proteins and their annotated locations for NP_001129120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks three alternate in-frame exons compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AL590006, BC144512, BQ018138, DB020920
    Consensus CDS
    CCDS47473.1
    UniProtKB/TrEMBL
    Q86WJ2
    Related
    ENSP00000357196.5, ENST00000368213.9
    Conserved Domains (5) summary
    smart00137
    Location:32192
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00410
    Location:202288
    IG_like; Immunoglobulin like
    cd14636
    Location:12361441
    R-PTPc-K-2; PTP domain of receptor-type tyrosine-protein phosphatase K, repeat 2
    pfam00041
    Location:488581
    fn3; Fibronectin type III domain
    cl28904
    Location:8721150
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
  2. NM_001291981.2NP_001278910.1  receptor-type tyrosine-protein phosphatase kappa isoform c precursor

    See identical proteins and their annotated locations for NP_001278910.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    BC144512, BC144513, BQ018138, DB020920
    Consensus CDS
    CCDS78179.1
    UniProtKB/TrEMBL
    Q5TG12
    Related
    ENSP00000432973.1, ENST00000532331.5
    Conserved Domains (5) summary
    smart00137
    Location:32192
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00410
    Location:202288
    IG_like; Immunoglobulin like
    cd14636
    Location:12521457
    R-PTPc-K-2; PTP domain of receptor-type tyrosine-protein phosphatase K, repeat 2
    pfam00041
    Location:488581
    fn3; Fibronectin type III domain
    cl28904
    Location:8881166
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
  3. NM_001291982.2NP_001278911.1  receptor-type tyrosine-protein phosphatase kappa isoform d precursor

    See identical proteins and their annotated locations for NP_001278911.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform c.
    Source sequence(s)
    AK295028, AL035465
    UniProtKB/TrEMBL
    B4DHC3, Q59EZ1
    Related
    ENST00000524481.5
    Conserved Domains (3) summary
    smart00137
    Location:32192
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00409
    Location:202288
    IG; Immunoglobulin
    pfam00041
    Location:488583
    fn3; Fibronectin type III domain
  4. NM_001291983.2NP_001278912.1  receptor-type tyrosine-protein phosphatase kappa isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and coding sequence compared to variant 3. The resulting isoform (d) has shorter and distinct N- and C-termini compared to isoform c.
    Source sequence(s)
    AB209670, AK295028, AL035465, AL590006
    UniProtKB/TrEMBL
    Q59EZ1
    Conserved Domains (5) summary
    cd06263
    Location:3663
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00410
    Location:73159
    IG_like; Immunoglobulin like
    cd00063
    Location:359460
    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:165243
    fn3; Fibronectin type III domain
    cl11960
    Location:75155
    Ig; Immunoglobulin domain
  5. NM_001291984.2NP_001278913.1  receptor-type tyrosine-protein phosphatase kappa isoform f precursor

    See identical proteins and their annotated locations for NP_001278913.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks three alternate in-frame exons and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (f) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AL357621, AL590006, BC144513, BQ018138, DB020920, Z70660
    Consensus CDS
    CCDS75517.1
    UniProtKB/Swiss-Prot
    B2RTQ8, B7ZMG0, Q14763, Q15262, Q5TG10, Q5TG11
    UniProtKB/TrEMBL
    Q86WJ2
    Related
    ENSP00000357198.3, ENST00000368215.7
    Conserved Domains (5) summary
    smart00137
    Location:32192
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00409
    Location:202288
    IG; Immunoglobulin
    cd14636
    Location:12291434
    R-PTPc-K-2; PTP domain of receptor-type tyrosine-protein phosphatase K, repeat 2
    pfam00041
    Location:488581
    fn3; Fibronectin type III domain
    cl28904
    Location:8711143
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
  6. NM_002844.4NP_002835.2  receptor-type tyrosine-protein phosphatase kappa isoform b precursor

    See identical proteins and their annotated locations for NP_002835.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AF533875, AK295028, BC140775, BQ018138, DA790525
    Consensus CDS
    CCDS5137.1
    UniProtKB/TrEMBL
    Q86WJ2
    Related
    ENSP00000357209.4, ENST00000368226.9
    Conserved Domains (5) summary
    smart00137
    Location:32192
    MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
    smart00409
    Location:202288
    IG; Immunoglobulin
    cd14636
    Location:12301435
    R-PTPc-K-2; PTP domain of receptor-type tyrosine-protein phosphatase K, repeat 2
    pfam00041
    Location:488581
    fn3; Fibronectin type III domain
    cl28904
    Location:8721144
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    127968785..128520599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187556.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    313983..869933 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    129157761..129713738 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)