Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GIT1 (GIT ArfGAP 1)

Identity

Alias_namesG protein-coupled receptor kinase interactor 1
G protein-coupled receptor kinase interacting ArfGAP 1
Other alias-
HGNC (Hugo) GIT1
LocusID (NCBI) 28964
Atlas_Id 53101
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 27900487 and ends at 27916610 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BCAS3 (17q23.2) / GIT1 (17q11.2)FOSL1 (11q13.1) / GIT1 (17q11.2)GIT1 (17q11.2) / CYB5D2 (17p13.2)
GIT1 (17q11.2) / MAGI1 (3p14.1)GIT1 (17q11.2) / SHMT1 (17p11.2)KIF3C (2p23.3) / GIT1 (17q11.2)
NRXN2 (11q13.1) / GIT1 (17q11.2)BCAS3 17q23.2 / GIT1 17q11.2

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)GIT1   4272
Cards
Entrez_Gene (NCBI)GIT1  28964  GIT ArfGAP 1
Aliases
GeneCards (Weizmann)GIT1
Ensembl hg19 (Hinxton)ENSG00000108262 [Gene_View]  chr17:27900487-27916610 [Contig_View]  GIT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108262 [Gene_View]  chr17:27900487-27916610 [Contig_View]  GIT1 [Vega]
ICGC DataPortalENSG00000108262
TCGA cBioPortalGIT1
AceView (NCBI)GIT1
Genatlas (Paris)GIT1
WikiGenes28964
SOURCE (Princeton)GIT1
Genetics Home Reference (NIH)GIT1
Genomic and cartography
GoldenPath hg19 (UCSC)GIT1  -     chr17:27900487-27916610 -  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GIT1  -     17q11.2   [Description]    (hg38-Dec_2013)
EnsemblGIT1 - 17q11.2 [CytoView hg19]  GIT1 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIGIT1 [Mapview hg19]  GIT1 [Mapview hg38]
OMIM608434   
Gene and transcription
Genbank (Entrez)AB209537 AF124490 AK000863 AK024826 AK294785
RefSeq transcript (Entrez)NM_001085454 NM_014030
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)GIT1
Cluster EST : UnigeneHs.514051 [ NCBI ]
CGAP (NCI)Hs.514051
Alternative Splicing GalleryENSG00000108262
Gene ExpressionGIT1 [ NCBI-GEO ]   GIT1 [ EBI - ARRAY_EXPRESS ]   GIT1 [ SEEK ]   GIT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GIT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28964
GTEX Portal (Tissue expression)GIT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2X7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2X7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2X7
Splice isoforms : SwissVarQ9Y2X7
PhosPhoSitePlusQ9Y2X7
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    ARFGAP (PS50115)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    ArfGAP    GIT1/2_CC    GIT1_C    GIT_SHD   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    ArfGap (PF01412)    GIT1_C (PF12205)    GIT_CC (PF16559)    GIT_SHD (PF08518)   
Domain families : Pfam (NCBI)pfam12796    pfam01412    pfam12205    pfam16559    pfam08518   
Domain families : Smart (EMBL)ANK (SM00248)  ArfGap (SM00105)  GIT (SM00555)  
Conserved Domain (NCBI)GIT1
DMDM Disease mutations28964
Blocks (Seattle)GIT1
SuperfamilyQ9Y2X7
Human Protein AtlasENSG00000108262
Peptide AtlasQ9Y2X7
HPRD06577
IPIIPI00384861   IPI00795611   IPI00383987   IPI00743271   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2X7
IntAct (EBI)Q9Y2X7
FunCoupENSG00000108262
BioGRIDGIT1
STRING (EMBL)GIT1
ZODIACGIT1
Ontologies - Pathways
QuickGOQ9Y2X7
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  cytosol  focal adhesion  regulation of G-protein coupled receptor protein signaling pathway  membrane  aggresome  protein complex binding  regulation of cytokinesis  positive regulation of GTPase activity  metal ion binding  ephrin receptor signaling pathway  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  cytosol  focal adhesion  regulation of G-protein coupled receptor protein signaling pathway  membrane  aggresome  protein complex binding  regulation of cytokinesis  positive regulation of GTPase activity  metal ion binding  ephrin receptor signaling pathway  
Pathways : KEGGEndocytosis    Regulation of actin cytoskeleton    Epithelial cell signaling in Helicobacter pylori infection   
NDEx NetworkGIT1
Atlas of Cancer Signalling NetworkGIT1
Wikipedia pathwaysGIT1
Orthology - Evolution
OrthoDB28964
GeneTree (enSembl)ENSG00000108262
Phylogenetic Trees/Animal Genes : TreeFamGIT1
HOVERGENQ9Y2X7
HOGENOMQ9Y2X7
Homologs : HomoloGeneGIT1
Homology/Alignments : Family Browser (UCSC)GIT1
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/GIT1 [17q23.2/17q11.2]  [t(17;17)(q11;q23)]  
Fusion : MitelmanGIT1/SHMT1 [17q11.2/17p11.2]  [dup(17)(p11q11)]  
Fusion: TCGABCAS3 17q23.2 GIT1 17q11.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIT1
dbVarGIT1
ClinVarGIT1
1000_GenomesGIT1 
Exome Variant ServerGIT1
ExAC (Exome Aggregation Consortium)GIT1 (select the gene name)
Genetic variants : HAPMAP28964
Genomic Variants (DGV)GIT1 [DGVbeta]
DECIPHER (Syndromes)17:27900487-27916610  ENSG00000108262
CONAN: Copy Number AnalysisGIT1 
Mutations
ICGC Data PortalGIT1 
TCGA Data PortalGIT1 
Broad Tumor PortalGIT1
OASIS PortalGIT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGIT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGIT1
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 GIT1
DgiDB (Drug Gene Interaction Database)GIT1
DoCM (Curated mutations)GIT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GIT1 (select a term)
intoGenGIT1
Cancer3DGIT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608434   
Orphanet
MedgenGIT1
Genetic Testing Registry GIT1
NextProtQ9Y2X7 [Medical]
TSGene28964
GENETestsGIT1
Huge Navigator GIT1 [HugePedia]
snp3D : Map Gene to Disease28964
BioCentury BCIQGIT1
ClinGenGIT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD28964
Chemical/Pharm GKB GenePA28683
Clinical trialGIT1
Miscellaneous
canSAR (ICR)GIT1 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGIT1
EVEXGIT1
GoPubMedGIT1
iHOPGIT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:07:27 CET 2017

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