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GIT1 (GIT ArfGAP 1)

Identity

Alias (NCBI)-
HGNC (Hugo) GIT1
HGNC Previous nameG protein-coupled receptor kinase interactor 1
 G protein-coupled receptor kinase interacting ArfGAP 1
LocusID (NCBI) 28964
Atlas_Id 53101
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 29573475 and ends at 29589648 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  dup(17)(p11q11) GIT1/SHMT1


External links

 

Nomenclature
HGNC (Hugo)GIT1   4272
Cards
Entrez_Gene (NCBI)GIT1    GIT ArfGAP 1
Aliases
GeneCards (Weizmann)GIT1
Ensembl hg19 (Hinxton)ENSG00000108262 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108262 [Gene_View]  ENSG00000108262 [Sequence]  chr17:29573475-29589648 [Contig_View]  GIT1 [Vega]
ICGC DataPortalENSG00000108262
TCGA cBioPortalGIT1
AceView (NCBI)GIT1
Genatlas (Paris)GIT1
SOURCE (Princeton)GIT1
Genetics Home Reference (NIH)GIT1
Genomic and cartography
GoldenPath hg38 (UCSC)GIT1  -     chr17:29573475-29589648 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GIT1  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathGIT1 - 17q11.2 [CytoView hg19]  GIT1 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000108262
Genome Data Viewer NCBIGIT1 [Mapview hg19]  
OMIM608434   
Gene and transcription
Genbank (Entrez)AB209537 AF124490 AK000863 AK024826 AK294785
RefSeq transcript (Entrez)NM_001085454 NM_014030
Consensus coding sequences : CCDS (NCBI)GIT1
Gene ExpressionGIT1 [ NCBI-GEO ]   GIT1 [ EBI - ARRAY_EXPRESS ]   GIT1 [ SEEK ]   GIT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GIT1 [ Firebrowse - Broad ]
GenevisibleExpression of GIT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28964
GTEX Portal (Tissue expression)GIT1
Human Protein AtlasENSG00000108262-GIT1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y2X7
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    ARFGAP (PS50115)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    ARFGAP/RecO    ArfGAP_dom    ArfGAP_dom_sf    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
SuperfamilyQ9Y2X7
AlphaFold pdb e-kbQ9Y2X7   
Human Protein Atlas [tissue]ENSG00000108262-GIT1 [tissue]
HPRD06577
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2X7
IntAct (EBI)Q9Y2X7
BioGRIDGIT1
STRING (EMBL)GIT1
ZODIACGIT1
Ontologies - Pathways
QuickGOQ9Y2X7
Ontology : AmiGOintramembranous ossification  GTPase activator activity  protein binding  mitochondrion  centrosome  cytosol  cytosol  focal adhesion  focal adhesion  brain development  locomotory behavior  regulation of G protein-coupled receptor signaling pathway  membrane  regulation of cytokinesis  negative regulation of interleukin-1 beta production  gamma-tubulin binding  calyx of Held  protein-containing complex binding  cell redox homeostasis  negative regulation of glycolytic process  metal ion binding  ephrin receptor signaling pathway  neuron development  regulation of catalytic activity  motor learning  cellular response to lipopolysaccharide  positive regulation of microtubule nucleation  mitotic spindle pole  postsynapse  presynaptic modulation of chemical synaptic transmission  negative regulation of inflammatory response to wounding  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIintramembranous ossification  GTPase activator activity  protein binding  mitochondrion  centrosome  cytosol  cytosol  focal adhesion  focal adhesion  brain development  locomotory behavior  regulation of G protein-coupled receptor signaling pathway  membrane  regulation of cytokinesis  negative regulation of interleukin-1 beta production  gamma-tubulin binding  calyx of Held  protein-containing complex binding  cell redox homeostasis  negative regulation of glycolytic process  metal ion binding  ephrin receptor signaling pathway  neuron development  regulation of catalytic activity  motor learning  cellular response to lipopolysaccharide  positive regulation of microtubule nucleation  mitotic spindle pole  postsynapse  presynaptic modulation of chemical synaptic transmission  negative regulation of inflammatory response to wounding  regulation of synaptic vesicle exocytosis  
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
Homologs : HomoloGeneGIT1
Homology/Alignments : Family Browser (UCSC)GIT1
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/GIT1 [17q23.2/17q11.2]  
Fusion : MitelmanGIT1/SHMT1 [17q11.2/17p11.2]  
Fusion : QuiverGIT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIT1
dbVarGIT1
ClinVarGIT1
MonarchGIT1
1000_GenomesGIT1 
Exome Variant ServerGIT1
GNOMAD BrowserENSG00000108262
Varsome BrowserGIT1
ACMGGIT1 variants
VarityQ9Y2X7
Genomic Variants (DGV)GIT1 [DGVbeta]
DECIPHERGIT1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DGIT1
Mutations and Diseases : HGMDGIT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGIT1
DgiDB (Drug Gene Interaction Database)GIT1
DoCM (Curated mutations)GIT1
CIViC (Clinical Interpretations of Variants in Cancer)GIT1
Cancer3DGIT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608434   
Orphanet
DisGeNETGIT1
MedgenGIT1
Genetic Testing Registry GIT1
NextProtQ9Y2X7 [Medical]
GENETestsGIT1
Target ValidationGIT1
Huge Navigator GIT1 [HugePedia]
ClinGenGIT1
Clinical trials, drugs, therapy
MyCancerGenomeGIT1
Protein Interactions : CTDGIT1
Pharm GKB GenePA28683
PharosQ9Y2X7
Clinical trialGIT1
Miscellaneous
canSAR (ICR)GIT1
HarmonizomeGIT1
DataMed IndexGIT1
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGIT1
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 : Mon Oct 4 15:10:47 CEST 2021

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