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SIT1 (signaling threshold regulating transmembrane adaptor 1)

Identity

Alias_namessuppression inducing transmembrane adaptor 1
Alias_symbol (synonym)SIT
Other aliasSIT-R
HGNC (Hugo) SIT1
LocusID (NCBI) 27240
Atlas_Id 73256
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35649301 and ends at 35650950 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RNF213 (17q25.3) / SIT1 (9p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SIT1   17710
Cards
Entrez_Gene (NCBI)SIT1  27240  signaling threshold regulating transmembrane adaptor 1
AliasesSIT; SIT-R
GeneCards (Weizmann)SIT1
Ensembl hg19 (Hinxton)ENSG00000137078 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137078 [Gene_View]  chr9:35649301-35650950 [Contig_View]  SIT1 [Vega]
ICGC DataPortalENSG00000137078
TCGA cBioPortalSIT1
AceView (NCBI)SIT1
Genatlas (Paris)SIT1
WikiGenes27240
SOURCE (Princeton)SIT1
Genetics Home Reference (NIH)SIT1
Genomic and cartography
GoldenPath hg38 (UCSC)SIT1  -     chr9:35649301-35650950 -  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIT1  -     9p13.3   [Description]    (hg19-Feb_2009)
EnsemblSIT1 - 9p13.3 [CytoView hg19]  SIT1 - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBISIT1 [Mapview hg19]  SIT1 [Mapview hg38]
OMIM604964   
Gene and transcription
Genbank (Entrez)AA310964 AA746595 AJ010059 AK314758 BC102029
RefSeq transcript (Entrez)NM_014450
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIT1
Cluster EST : UnigeneHs.88012 [ NCBI ]
CGAP (NCI)Hs.88012
Alternative Splicing GalleryENSG00000137078
Gene ExpressionSIT1 [ NCBI-GEO ]   SIT1 [ EBI - ARRAY_EXPRESS ]   SIT1 [ SEEK ]   SIT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SIT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27240
GTEX Portal (Tissue expression)SIT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3P8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3P8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3P8
Splice isoforms : SwissVarQ9Y3P8
PhosPhoSitePlusQ9Y3P8
Domains : Interpro (EBI)Sit1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain structure : Prodom (Prabi Lyon)PD358400 (PD358400)   
Conserved Domain (NCBI)SIT1
DMDM Disease mutations27240
Blocks (Seattle)SIT1
SuperfamilyQ9Y3P8
Human Protein AtlasENSG00000137078
Peptide AtlasQ9Y3P8
HPRD05394
IPIIPI00004407   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3P8
IntAct (EBI)Q9Y3P8
FunCoupENSG00000137078
BioGRIDSIT1
STRING (EMBL)SIT1
ZODIACSIT1
Ontologies - Pathways
QuickGOQ9Y3P8
Ontology : AmiGOadaptive immune response  protein binding  plasma membrane  integral component of plasma membrane  signal transduction  kinase binding  SH2 domain binding  T cell homeostasis  regulation of T cell activation  extracellular exosome  
Ontology : EGO-EBIadaptive immune response  protein binding  plasma membrane  integral component of plasma membrane  signal transduction  kinase binding  SH2 domain binding  T cell homeostasis  regulation of T cell activation  extracellular exosome  
NDEx NetworkSIT1
Atlas of Cancer Signalling NetworkSIT1
Wikipedia pathwaysSIT1
Orthology - Evolution
OrthoDB27240
GeneTree (enSembl)ENSG00000137078
Phylogenetic Trees/Animal Genes : TreeFamSIT1
HOVERGENQ9Y3P8
HOGENOMQ9Y3P8
Homologs : HomoloGeneSIT1
Homology/Alignments : Family Browser (UCSC)SIT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIT1
dbVarSIT1
ClinVarSIT1
1000_GenomesSIT1 
Exome Variant ServerSIT1
ExAC (Exome Aggregation Consortium)SIT1 (select the gene name)
Genetic variants : HAPMAP27240
Genomic Variants (DGV)SIT1 [DGVbeta]
DECIPHERSIT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIT1 
Mutations
ICGC Data PortalSIT1 
TCGA Data PortalSIT1 
Broad Tumor PortalSIT1
OASIS PortalSIT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SIT1
DgiDB (Drug Gene Interaction Database)SIT1
DoCM (Curated mutations)SIT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIT1 (select a term)
intoGenSIT1
Cancer3DSIT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604964   
Orphanet
MedgenSIT1
Genetic Testing Registry SIT1
NextProtQ9Y3P8 [Medical]
TSGene27240
GENETestsSIT1
Target ValidationSIT1
Huge Navigator SIT1 [HugePedia]
snp3D : Map Gene to Disease27240
BioCentury BCIQSIT1
ClinGenSIT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27240
Chemical/Pharm GKB GenePA142670914
Clinical trialSIT1
Miscellaneous
canSAR (ICR)SIT1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIT1
EVEXSIT1
GoPubMedSIT1
iHOPSIT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:40:47 CEST 2017

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