1. Gene
  2. SKAP1 - src kinase associated phosphoprotein 1 Gene

SKAP1 - src kinase associated phosphoprotein 1 Gene

Homo sapiens

Also known as SCAP1; SKAP55; HEL-S-81p

Gene ID: 8631 | Gene type: protein coding

About SKAP1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,133,442-48,445,061 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues and 1 paralogue. Broad expression in lymph node (RPKM 9.4), spleen (RPKM 4.5) and 17 other tissues.

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]

SKAP1 Products(2)

mRNA Protein Name
NM_001075099.2 NP_001068567.1 src kinase-associated phosphoprotein 1 isoform 2
NM_003726.4 NP_003717.3 src kinase-associated phosphoprotein 1 isoform 1

SKAP1 Protein Structure

PH

PH: PH domain (108 - 209)

SH3_9

SH3_9: Variant SH3 domain (306 - 351)

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  • 359 a.a.
Protein Preferred Names Protein Names

src kinase-associated phosphoprotein 1

SKAP-55

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 3

SCAR3

Scabd

Autosomal Recessive Spinocerebellar Ataxia Type 3

Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome

Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome

Spinocerebellar Ataxia With Blindness And Deafness

Autosomal Recessive Spinocerebellar Ataxia 3

Spinocerebellar Ataxia Autosomal Recessive 3

Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness

Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome

Lactocele

Galactocele

Galactocoele

Lacteal Cyst

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SKAP1 VGNC VGNC:46196
Macaca mulatta SKAP1 VGNC VGNC:104652
Mus musculus SKAP1 MGD MGI:1925723
Bos taurus SKAP1 VGNC VGNC:54484
Rattus norvegicus SKAP1 RGD RGD:708436
Felis catus SKAP1 VGNC VGNC:65169