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SIT1 signaling threshold regulating transmembrane adaptor 1 [ Homo sapiens (human) ]

Gene ID: 27240, updated on 11-Sep-2019

Summary

Official Symbol
SIT1provided by HGNC
Official Full Name
signaling threshold regulating transmembrane adaptor 1provided by HGNC
Primary source
HGNC:HGNC:17710
See related
Ensembl:ENSG00000137078 MIM:604964
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SIT; SIT-R
Expression
Biased expression in lymph node (RPKM 22.9), appendix (RPKM 10.2) and 8 other tissues See more
Orthologs

Genomic context

See SIT1 in Genome Data Viewer
Location:
9p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35649295..35650931, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35649295..35650947, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene testis associated actin remodelling kinase 1 Neighboring gene CD72 molecule Neighboring gene uncharacterized LOC101926948 Neighboring gene Rho guanine nucleotide exchange factor 39 Neighboring gene coiled-coil domain containing 107 Neighboring gene RNA component of mitochondrial RNA processing endoribonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SIT1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125908, MGC125909, MGC125910

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH2 domain binding TAS
Traceable Author Statement
more info
PubMed 
kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
signaling threshold-regulating transmembrane adapter 1
Names
SHP-2 interacting transmembrane adaptor protein
SHP2 interacting transmembrane adaptor
SHP2-interacting transmembrane adapter protein
SHP2-interacting transmembrane adaptor protein
gp30/40
suppression inducing transmembrane adaptor 1
suppression-inducing transmembrane adapter 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014450.3NP_055265.1  signaling threshold-regulating transmembrane adapter 1 precursor

    See identical proteins and their annotated locations for NP_055265.1

    Status: VALIDATED

    Source sequence(s)
    AA310964, AA746595, AJ010059, AL357874, BM919490
    Consensus CDS
    CCDS6582.1
    UniProtKB/Swiss-Prot
    Q9Y3P8
    Related
    ENSP00000259608.3, ENST00000259608.8
    Conserved Domains (1) summary
    pfam15330
    Location:45132
    SIT; SHP2-interacting transmembrane adaptor protein, SIT

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35649295..35650931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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