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Aliases for SIT1 Gene

Aliases for SIT1 Gene

  • Signaling Threshold Regulating Transmembrane Adaptor 1 2 3 5
  • SHP2-Interacting Transmembrane Adapter Protein 3 4
  • Suppression Inducing Transmembrane Adaptor 1 2 3
  • Suppression-Inducing Transmembrane Adapter 1 3 4
  • SHP2 Interacting Transmembrane Adaptor 2 3
  • Gp30/40 3 4
  • SIT 3 4
  • Signaling Threshold-Regulating Transmembrane Adapter 1 3
  • SHP-2 Interacting Transmembrane Adaptor Protein 3
  • SHP2-Interacting Transmembrane Adaptor Protein 3
  • SIT-R 3

External Ids for SIT1 Gene

Summaries for SIT1 Gene

GeneCards Summary for SIT1 Gene

SIT1 (Signaling Threshold Regulating Transmembrane Adaptor 1) is a Protein Coding gene. Among its related pathways are TCR Signaling (Qiagen). Gene Ontology (GO) annotations related to this gene include kinase binding and SH2 domain binding.

UniProtKB/Swiss-Prot for SIT1 Gene

  • Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells.

Gene Wiki entry for SIT1 Gene

Additional gene information for SIT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIT1 Gene

Genomics for SIT1 Gene

GeneHancer (GH) Regulatory Elements for SIT1 Gene

Promoters and enhancers for SIT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I035644 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.1 2095 9 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 ZNF207 CD72 SIT1 ARHGEF39 TMEM8B CCDC107 CA9 IL11RA LOC101926948
GH09I035679 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -35.2 -35167 12.8 PKNOX1 ARID4B SIN3A POLR2B GLIS2 FOS SP3 REST SMARCB1 MIER3 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 MSMP
GH09I035616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.7 +31.7 31696 6.4 HDGF PKNOX1 ATF1 SMAD1 RB1 SIN3A BATF RFX5 ETS1 SCRT2 CD72 CCDC107 RN7SL22P ARHGEF39 SIT1 CA9 FAM166B TLN1 CREB3 GBA2
GH09I035694 Enhancer 0.9 ENCODE dbSUPER 12.1 -45.1 -45137 2.6 CTCF FOXA2 RB1 ARID4B RAD21 CTBP1 POLR2A ZBTB48 SMC3 ZNF143 TPM2 RN7SL22P ARHGEF39 CCDC107 SIT1 CA9 CREB3 TLN1 GBA2 RGP1
GH09I035611 Enhancer 0.6 ENCODE 11.6 +39.5 39511 0.2 CTCF PKNOX1 SIN3A KLF5 RAD21 ZNF143 RCOR1 BCLAF1 ZNF18 CCDC107 RN7SL22P ARHGEF39 SIT1 FAM166B CA9 CREB3 TLN1 GBA2 MIR4667
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIT1 gene promoter:

Genomic Locations for SIT1 Gene

Genomic Locations for SIT1 Gene
chr9:35,649,295-35,650,950
(GRCh38/hg38)
Size:
1,656 bases
Orientation:
Minus strand
chr9:35,649,292-35,650,947
(GRCh37/hg19)

Genomic View for SIT1 Gene

Genes around SIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIT1 Gene

Proteins for SIT1 Gene

  • Protein details for SIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3P8-SIT1_HUMAN
    Recommended name:
    Signaling threshold-regulating transmembrane adapter 1
    Protein Accession:
    Q9Y3P8
    Secondary Accessions:
    • B2RBP9

    Protein attributes for SIT1 Gene

    Size:
    196 amino acids
    Molecular mass:
    21126 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. When phosphorylated, interacts with PTPN11/SHP2, GRB2 and CSK.

neXtProt entry for SIT1 Gene

Post-translational modifications for SIT1 Gene

  • Phosphorylated on tyrosines by LCK, FYN or ZAP70 upon TCR activation; which leads to the recruitment of PTPN11, GRB2 and CSK.
  • Glycosylation at isoforms=26
  • Modification sites at PhosphoSitePlus

Other Protein References for SIT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIT1 Gene

Domains & Families for SIT1 Gene

Gene Families for SIT1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SIT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIT1: view

No data available for UniProtKB/Swiss-Prot for SIT1 Gene

Function for SIT1 Gene

Molecular function for SIT1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells.

Phenotypes From GWAS Catalog for SIT1 Gene

Gene Ontology (GO) - Molecular Function for SIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10209036
GO:0019900 kinase binding IPI 10209036
GO:0042169 SH2 domain binding TAS 11433379
genes like me logo Genes that share ontologies with SIT1: view
genes like me logo Genes that share phenotypes with SIT1: view

Animal Models for SIT1 Gene

MGI Knock Outs for SIT1:

Animal Model Products

miRNA for SIT1 Gene

miRTarBase miRNAs that target SIT1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIT1 Gene

Localization for SIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIT1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIT1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 10209036
GO:0005887 integral component of plasma membrane TAS 11433379
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 20458337
genes like me logo Genes that share ontologies with SIT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIT1 Gene

Pathways & Interactions for SIT1 Gene

SuperPathway Contained pathways
1 TCR Signaling (Qiagen)
genes like me logo Genes that share pathways with SIT1: view

Pathways by source for SIT1 Gene

1 Qiagen pathway for SIT1 Gene

Gene Ontology (GO) - Biological Process for SIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007165 signal transduction IEA --
GO:0043029 T cell homeostasis IEA --
GO:0050863 regulation of T cell activation IEA,IDA 10209036
genes like me logo Genes that share ontologies with SIT1: view

No data available for SIGNOR curated interactions for SIT1 Gene

Drugs & Compounds for SIT1 Gene

(1) Drugs for SIT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SIT1: view

Transcripts for SIT1 Gene

Unigene Clusters for SIT1 Gene

Signaling threshold regulating transmembrane adaptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for SIT1 Gene

GeneLoc Exon Structure for
SIT1
ECgene alternative splicing isoforms for
SIT1

Expression for SIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIT1 Gene

This gene is overexpressed in Whole Blood (x11.2), Spleen (x8.4), and Small Intestine - Terminal Ileum (x4.5).

Protein differential expression in normal tissues from HIPED for SIT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.3), CD8 Tcells (15.0), Blymphocyte (8.4), and CD4 Tcells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SIT1 Gene



Protein tissue co-expression partners for SIT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SIT1 Gene:

SIT1

SOURCE GeneReport for Unigene cluster for SIT1 Gene:

Hs.88012

mRNA Expression by UniProt/SwissProt for SIT1 Gene:

Q9Y3P8-SIT1_HUMAN
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.
genes like me logo Genes that share expression patterns with SIT1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIT1 Gene

Orthologs for SIT1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIT1 33 34
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia SIT1 33 34
  • 85.66 (n)
cow
(Bos Taurus)
Mammalia SIT1 33 34
  • 84.35 (n)
mouse
(Mus musculus)
Mammalia Sit1 33 16 34
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Sit1 33
  • 80.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SIT1 34
  • 39 (a)
OneToOne
Species where no ortholog for SIT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SIT1 Gene

ENSEMBL:
Gene Tree for SIT1 (if available)
TreeFam:
Gene Tree for SIT1 (if available)

Paralogs for SIT1 Gene

(1) SIMAP similar genes for SIT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SIT1: view

No data available for Paralogs for SIT1 Gene

Variants for SIT1 Gene

Sequence variations from dbSNP and Humsavar for SIT1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000652609 -- 35,651,432(-) T/C upstream_transcript_variant
rs1002229520 -- 35,649,451(-) A/G 3_prime_UTR_variant
rs1002981061 -- 35,649,408(-) G/A 3_prime_UTR_variant
rs1003340840 -- 35,649,613(-) G/T 3_prime_UTR_variant
rs1004159727 -- 35,651,830(-) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SIT1 Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Variation tolerance for SIT1 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIT1 Gene

Disorders for SIT1 Gene

Additional Disease Information for SIT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SIT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SIT1 Gene

Publications for SIT1 Gene

  1. Complete sequence, genomic organization, and chromosomal localization of the human gene encoding the SHP2-interacting transmembrane adaptor protein (SIT). (PMID: 11491537) Hübener C … Bruyns E (Immunogenetics 2001) 2 3 4 22 58
  2. SHP2-interacting transmembrane adaptor protein (SIT), a novel disulfide-linked dimer regulating human T cell activation. (PMID: 10209036) Marie-Cardine A … Schraven B (The Journal of experimental medicine 1999) 2 3 4 22 58
  3. Structural and functional dissection of the cytoplasmic domain of the transmembrane adaptor protein SIT (SHP2-interacting transmembrane adaptor protein). (PMID: 11433379) Pfrepper KI … Schraven B (European journal of immunology 2001) 3 4 22 58
  4. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 44 58
  5. Transmembrane adaptor molecules: a new category of lymphoid-cell markers. (PMID: 16160011) Tedoldi S … Horejsí V (Blood 2006) 3 4 58

Products for SIT1 Gene

Sources for SIT1 Gene

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