• Gene id: 27240

Gene Summary

• Gene Symbol: SIT1   Gene   UCSC   Ensembl
• Aliases: SIT, SIT-R
• Gene name: signaling threshold regulating transmembrane adaptor 1
• Alternate names: signaling threshold-regulating transmembrane adapter 1, SHP-2 interacting transmembrane adaptor protein, SHP2 interacting transmembrane adaptor, SHP2-interacting transmembrane adapter protein, SHP2-interacting transmembrane adaptor protein, gp30/40, suppression,
• Gene location: 9p13.3 (22298097: 22322967)     Exons: 11     NC_000022.11

Protein Summary

• Protein general information: Q9Y3P8  
  • Name: Signaling threshold regulating transmembrane adapter 1 (SHP2 interacting transmembrane adapter protein) (Suppression inducing transmembrane adapter 1) (gp30/40)
  • Length: 196  
  • Mass: 21126
  • Tissue specificity: Specifically expressed in T- and B-cells. Present in plasma cells but not in germinal center B-cells (at protein level). Expressed in T- and B-cell lymphoma. {ECO
• Sequence:

  MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLAAHLSQWTRGRSRSHP
  GQGRSGESVEEVPLYGNLHYLQTGRLSQDPEPDQQDPTLGGPARAAEEVMCYTSLQLRPPQGRIPGPGTPVKYSE
  VVLDSEPKSQASGPEPELYASVCAQTRRARASFPDQAYANSQPAAS

• Structural information:
  • Interpro: IPR033269  
  • STRING: ENSP00000259608
• Other Databases: GeneCards:  SIT1  Malacards:  SIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042169	SH2 domain binding	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0050863	regulation of T cell activation	IBA	biological process
GO:0019900	kinase binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0050863	regulation of T cell activation	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0050863	regulation of T cell activation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019900	kinase binding	IPI	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R