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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH2 domain binding	IDA IDA: Inferred from direct assay	9195899	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16461356	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	9195899	GOA
enables protein phosphatase binding	IPI IPI: Inferred from physical interaction	11909961	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in T cell receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	11909961	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	11909961	GOA
involved in positive regulation of adaptive immune response	IDA IDA: Inferred from direct assay	12652296	GOA
involved in positive regulation of cell-cell adhesion mediated by integrin	IGI IGI: Inferred from genetic interaction	12652296	GOA
involved in positive regulation of cell-matrix adhesion	IGI IGI: Inferred from genetic interaction	12652296	GOA
involved in positive regulation of heterotypic cell-cell adhesion	IDA IDA: Inferred from direct assay	12652296	GOA
involved in positive regulation of integrin activation	IDA IDA: Inferred from direct assay	12652296	GOA
involved in positive regulation of leukocyte cell-cell adhesion	IDA IDA: Inferred from direct assay	12652296	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11909961	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11909961	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11909961	GOA
located in immunological synapse	IDA IDA: Inferred from direct assay	12652296	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11909961	GOA
located in plasma membrane raft	IDA IDA: Inferred from direct assay	12652296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SKAP1 Protein Structure

SH3_9

0
100
200
300
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12967	SKAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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