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Sit1 Gene Detail
Summary
  • Symbol
    Sit1
  • Name
    suppression inducing transmembrane adaptor 1
  • Synonyms
    Sit
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889342
    NCBI Gene: 54390
  • Gene Overview
    MyGene.info: SIT1
Location & Maps
more
  • Sequence Map
    Chr4:43482081-43483734 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1654 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SIT1, signaling threshold regulating transmembrane adaptor 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SIT1, signaling threshold regulating transmembrane adaptor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    SIT, SIT-R
  • Links
    NCBI Gene ID: 27240
    neXtProt AC: NX_Q9Y3P8

  • Chr Location
    9p13-p12; chr9:35649298-35650950 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 1 allele in 1 genetic background
    5 phenotypes from multigenic genotypes
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically and radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Sit1
  • Incidental Mutations
Homozygous null mice exhibit altered T-cell development, thymus hyperplasia, decreased lymph node cellularity and are more susceptible to develop experimental autoimmune encephalomyelitis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006916 VEGA Gene Model | MGI Sequence Detail 1654 C57BL/6J ±  kb
transcript OTTMUST00000015960 VEGA | MGI Sequence Detail 1228 Not Applicable  
polypeptide OTTMUSP00000007334 VEGA | MGI Sequence Detail 180 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    39 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014894 signaling threshold-regulating transmembrane adapter 1
Molecular
Reagents
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  • All nucleic 4
    cDNA 4

    Microarray probesets 3
References
more
  • Summaries
    All 27
    Gene Ontology 4
    Phenotypes 6
  • Earliest
    J:62650 Marie-Cardine A, et al., SHP2-interacting transmembrane adaptor protein (SIT), a novel disulfide-linked dimer regulating human T cell activation. J Exp Med. 1999 Apr 19;189(8):1181-94
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory