AutismKB 2.0

Annotation Details for SIT1


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Basic Information Top
Gene Symbol:SIT1 ( MGC125908,MGC125909,MGC125910,RP11-331F9.5,SIT )
Gene Full Name: signaling threshold regulating transmembrane adaptor 1
Band: 9p13.3
Quick LinksEntrez ID:27240; OMIM: 604964; Uniprot ID:SIT1_HUMAN; ENSEMBL ID: ENSG00000137078; HGNC ID: 17710
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane10209036
GO:0005887TAS-integral component of plasma membrane11433379
GO:0070062IDA-extracellular exosome20458337
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding10209036
GO:0019900IPI-kinase binding10209036
GO:0042169TAS-SH2 domain binding11433379
GO ID Evidence Qualifier GO_term References
GO:0002250IEA-adaptive immune response-
GO:0007165IEA-signal transduction-
GO:0043029IEA-T cell homeostasis-
GO:0050863IDA-regulation of T cell activation10209036
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SIT1FYN11808810209036 Affinity Capture-Western
SIT1FYN10881010209036 Affinity Capture-Western
SIT1LCK11808810209036 Affinity Capture-Western
SIT1LCK11012410209036 Affinity Capture-Western
SIT1PTPN1111808810209036 Affinity Capture-Western
SIT1PTPN1111174510209036 Affinity Capture-Western
SIT1SYK11808810209036 Affinity Capture-Western
SIT1SYK11271710209036 Affinity Capture-Western
SIT1ZAP7011336710209036 Affinity Capture-Western
SIT1ZAP7011808810209036 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1889342
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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