• Gene id: 8631

Gene Summary

• Gene Symbol: SKAP1   Gene   UCSC   Ensembl
• Aliases: HEL-S-81p, SCAP1, SKAP55
• Gene name: src kinase associated phosphoprotein 1
• Alternate names: src kinase-associated phosphoprotein 1, SKAP-55, epididymis secretory sperm binding protein Li 81p, pp55, src family-associated phosphoprotein 1, src kinase-associated phosphoprotein of 55 kDa,
• Gene location: 17q21.32 (48430249: 48133437)     Exons: 9     NC_000017.11
• Gene summary(Entrez): 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 followe
• OMIM: 604969

SNPs

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

Protein Summary

• Protein general information: Q86WV1  
  • Name: Src kinase associated phosphoprotein 1 (Src family associated phosphoprotein 1) (Src kinase associated phosphoprotein of 55 kDa) (SKAP 55) (pp55)
  • Length: 359  
  • Mass: 41432
  • Tissue specificity: Highly expressed in thymocytes and peripheral blood lymphocytes. Also expressed in spleen cells and testis. Present in T-cells (at protein level). {ECO
• Sequence:

  MQAAALPEEIRWLLEDAEEFLAEGLRNENLSAVARDHRDHILRGFQQIKARYYWDFQPQGGDIGQDSSDDNHSGT
  LGLSLTSDAPFLSDYQDEGMEDIVKGAQELDNVIKQGYLEKKSKDHSFFGSEWQKRWCVVSRGLFYYYANEKSKQ
  PKGTFLIKGYGVRMAPHLRRDSKKESCFELTSQDRRSYEFTATSPAEARDWVDQISFLLKDLSSLTIPYEEDEEE
  EEKEETYDDIDGFDSPSCGSQCRPTILPGSVGIKEPTEEKEEEDIYEVLPDEEHDLEEDESGTRRKGVDYASYYQ
  GLWDCHGDQPDELSFQRGDLIRILSKEYNMYGWWVGELNSLVGIVPKEYLTTAFEVEER

• Structural information:
  • Protein Domains: (107..21-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (294..35-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR011993  IPR001849  IPR036028  IPR001452  IPR035765   IPR037781  
  • Prosite: PS50003 PS50002
  • CDD: cd12044
  • PDB: 1U5D
  • PDBsum: 1U5D
  • STRING: ENSP00000338171
• Other Databases: GeneCards:  SKAP1  Malacards:  SKAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0042169	SH2 domain binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0050852	T cell receptor signaling pathway	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0042101	T cell receptor complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042169	SH2 domain binding	IEA	molecular function
GO:0001772	immunological synapse	IDA	cellular component
GO:0002821	positive regulation of adaptive immune response	IDA	biological process
GO:0044853	plasma membrane raft	IDA	cellular component
GO:0033625	positive regulation of integrin activation	IDA	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IDA	biological process
GO:1903039	positive regulation of leukocyte cell-cell adhesion	IDA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IGI	biological process
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	IGI	biological process
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	IGI	biological process
GO:0017124	SH3 domain binding	TAS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray