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SKAP1 src kinase associated phosphoprotein 1 [ Homo sapiens (human) ]

Gene ID: 8631, updated on 7-Dec-2018

Summary

Official Symbol
SKAP1provided by HGNC
Official Full Name
src kinase associated phosphoprotein 1provided by HGNC
Primary source
HGNC:HGNC:15605
See related
Ensembl:ENSG00000141293 MIM:604969
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
SCAP1; SKAP55; HEL-S-81p
Summary
This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 9.4), spleen (RPKM 4.5) and 17 other tissues See more
Orthologs

Genomic context

See SKAP1 in Genome Data Viewer
Location:
17q21.32
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (48133438..48430250, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46210802..46507596, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene chromobox 1 Neighboring gene VISTA enhancer hs697 Neighboring gene sorting nexin 11 Neighboring gene microRNA 1203 Neighboring gene RNA, U6 small nuclear 1152, pseudogene Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 1 Neighboring gene uncharacterized LOC105371807 Neighboring gene uncharacterized LOC101927166 Neighboring gene uncharacterized LOC105371808

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.
NHGRI GWA Catalog
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
NHGRI GWA Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of src kinase associated phosphoprotein 1 (SKAP1) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystem (from WikiPathways)
    T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH2 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
SH3 domain binding TAS
Traceable Author Statement
more info
PubMed 
SH3/SH2 adaptor activity IC
Inferred by Curator
more info
PubMed 
microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to epidermal growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of adaptive immune response IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell-cell adhesion mediated by integrin IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell-matrix adhesion IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of integrin activation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of leukocyte cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T cell receptor complex IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
immunological synapse IDA
Inferred from Direct Assay
more info
PubMed 
microtubule plus-end IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
src kinase-associated phosphoprotein 1
Names
SKAP-55
epididymis secretory sperm binding protein Li 81p
pp55
src family-associated phosphoprotein 1
src kinase-associated phosphoprotein of 55 kDa

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.

mRNA and Protein(s)

  1. NM_001075099.1NP_001068567.1  src kinase-associated phosphoprotein 1 isoform 2

    See identical proteins and their annotated locations for NP_001068567.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the coding region, compared to variant 1. The encoded protein (isoform 2) is shorter but has identical N- and C-termini, compared to isoform 1.
    Source sequence(s)
    BC047870, DR007155
    UniProtKB/Swiss-Prot
    Q86WV1
    UniProtKB/TrEMBL
    V9HW03
    Conserved Domains (2) summary
    cd12044
    Location:297349
    SH3_SKAP1; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 1
    cd13380
    Location:108213
    PH_Skap1; Src kinase-associated phosphoprotein 1 Pleckstrin homology (PH) domain
  2. NM_003726.4NP_003717.3  src kinase-associated phosphoprotein 1 isoform 1

    See identical proteins and their annotated locations for NP_003717.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC047870, DR007155, Y11215
    Consensus CDS
    CCDS32674.1
    UniProtKB/Swiss-Prot
    Q86WV1
    Related
    ENSP00000338171.6, ENST00000336915.10
    Conserved Domains (3) summary
    cd12044
    Location:298350
    SH3_SKAP1; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 1
    cd13380
    Location:108213
    PH_Skap1; Src kinase-associated phosphoprotein 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:108210
    PH; PH domain

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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    48133438..48430250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025259.1XP_016880748.1  src kinase-associated phosphoprotein 1 isoform X5

  2. XM_005257755.4XP_005257812.1  src kinase-associated phosphoprotein 1 isoform X1

    Conserved Domains (3) summary
    cd12044
    Location:280332
    SH3_SKAP1; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 1
    cd13380
    Location:108213
    PH_Skap1; Src kinase-associated phosphoprotein 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:108210
    PH; PH domain
  3. XM_017025257.2XP_016880746.1  src kinase-associated phosphoprotein 1 isoform X3

  4. XM_024451012.1XP_024306780.1  src kinase-associated phosphoprotein 1 isoform X2

    Conserved Domains (2) summary
    cd12044
    Location:279331
    SH3_SKAP1; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 1
    cd13380
    Location:89194
    PH_Skap1; Src kinase-associated phosphoprotein 1 Pleckstrin homology (PH) domain
  5. XM_017025260.1XP_016880749.1  src kinase-associated phosphoprotein 1 isoform X5

  6. XM_017025258.1XP_016880747.1  src kinase-associated phosphoprotein 1 isoform X4

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