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

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; AllianceGenome:HGNC:17710
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
Summary: Enables kinase binding activity. Involved in regulation of T cell activation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lymph node (RPKM 22.9), appendix (RPKM 10.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35649295..35650931, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35669953..35671589, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35649292..35650928, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SIT as an important modulator of TCR-mediated signaling that regulates T-cell activation, homeostasis and tolerance
Title: The transmembrane adaptor protein SIT inhibits TCR-mediated signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SIT__6839 (e-PCR)
- UniSTS:466435

NoName (e-PCR)
- UniSTS:489845

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	TAS Traceable Author Statement more info	PubMed
enables kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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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)

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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.