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ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)

Identity

Alias_namesADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
Alias_symbol (synonym)DKFZP434L057
BIG1
ARFGEP1
p200
Other aliasP200
HGNC (Hugo) ARFGEF1
LocusID (NCBI) 10565
Atlas_Id 43128
Location 8q13.2  [Link to chromosome band 8q13]
Location_base_pair Starts at 67197649 and ends at 67343677 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARFGEF1 (8q13.2) / ARFGEF1 (8q13.2)ARFGEF1 (8q13.2) / CPA6 (8q13.2)ARFGEF1 (8q13.2) / PLPP1 (5q11.2)
ARFGEF1 (8q13.2) / RP11-366K18.3 ()FBXL7 (5p15.1) / ARFGEF1 (8q13.2)MRPS28 (8q21.13) / ARFGEF1 (8q13.2)
NCOA2 (8q13.3) / ARFGEF1 (8q13.2)UBE2V1 (20q13.13) / ARFGEF1 (8q13.2)ARFGEF1 8q13.2 / CPA6 8q13.2
ARFGEF1 8q13.2 RP11-366K18.3NCOA2 8q13.3 / ARFGEF1 8q13.2

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)ARFGEF1   15772
Cards
Entrez_Gene (NCBI)ARFGEF1  10565  ADP ribosylation factor guanine nucleotide exchange factor 1
AliasesARFGEP1; BIG1; P200
GeneCards (Weizmann)ARFGEF1
Ensembl hg19 (Hinxton)ENSG00000066777 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066777 [Gene_View]  chr8:67197649-67343677 [Contig_View]  ARFGEF1 [Vega]
ICGC DataPortalENSG00000066777
TCGA cBioPortalARFGEF1
AceView (NCBI)ARFGEF1
Genatlas (Paris)ARFGEF1
WikiGenes10565
SOURCE (Princeton)ARFGEF1
Genetics Home Reference (NIH)ARFGEF1
Genomic and cartography
GoldenPath hg38 (UCSC)ARFGEF1  -     chr8:67197649-67343677 -  8q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARFGEF1  -     8q13.2   [Description]    (hg19-Feb_2009)
EnsemblARFGEF1 - 8q13.2 [CytoView hg19]  ARFGEF1 - 8q13.2 [CytoView hg38]
Mapping of homologs : NCBIARFGEF1 [Mapview hg19]  ARFGEF1 [Mapview hg38]
OMIM604141   
Gene and transcription
Genbank (Entrez)AB209324 AF084520 AF111162 AI523655 AI692863
RefSeq transcript (Entrez)NM_006421
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARFGEF1
Cluster EST : UnigeneHs.656902 [ NCBI ]
CGAP (NCI)Hs.656902
Alternative Splicing GalleryENSG00000066777
Gene ExpressionARFGEF1 [ NCBI-GEO ]   ARFGEF1 [ EBI - ARRAY_EXPRESS ]   ARFGEF1 [ SEEK ]   ARFGEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ARFGEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10565
GTEX Portal (Tissue expression)ARFGEF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6D6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6D6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6D6
Splice isoforms : SwissVarQ9Y6D6
PhosPhoSitePlusQ9Y6D6
Domaine pattern : Prosite (Expaxy)SEC7 (PS50190)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    DCB_dom    Sec7_alpha_orthog    Sec7_C    Sec7_dom    Sec7_N   
Domain families : Pfam (Sanger)DCB (PF16213)    DUF1981 (PF09324)    Sec7 (PF01369)    Sec7_N (PF12783)   
Domain families : Pfam (NCBI)pfam16213    pfam09324    pfam01369    pfam12783   
Domain families : Smart (EMBL)Sec7 (SM00222)  
Conserved Domain (NCBI)ARFGEF1
DMDM Disease mutations10565
Blocks (Seattle)ARFGEF1
PDB (SRS)3LTL    5EE5    5J5C   
PDB (PDBSum)3LTL    5EE5    5J5C   
PDB (IMB)3LTL    5EE5    5J5C   
PDB (RSDB)3LTL    5EE5    5J5C   
Structural Biology KnowledgeBase3LTL    5EE5    5J5C   
SCOP (Structural Classification of Proteins)3LTL    5EE5    5J5C   
CATH (Classification of proteins structures)3LTL    5EE5    5J5C   
SuperfamilyQ9Y6D6
Human Protein AtlasENSG00000066777
Peptide AtlasQ9Y6D6
HPRD09163
IPIIPI00002188   IPI01011134   IPI00984763   IPI00977351   IPI00973992   IPI00975698   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6D6
IntAct (EBI)Q9Y6D6
FunCoupENSG00000066777
BioGRIDARFGEF1
STRING (EMBL)ARFGEF1
ZODIACARFGEF1
Ontologies - Pathways
QuickGOQ9Y6D6
Ontology : AmiGOGolgi membrane  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  nucleoplasm  nucleolus  Golgi apparatus  trans-Golgi network  trans-Golgi network  cytosol  exocytosis  Golgi organization  endomembrane system organization  protein transport  nuclear matrix  myosin binding  small nuclear ribonucleoprotein complex  negative regulation of actin filament polymerization  neuron projection development  regulation of ARF protein signal transduction  protein kinase A regulatory subunit binding  negative regulation of GTPase activity  positive regulation of GTPase activity  perinuclear region of cytoplasm  positive regulation of protein kinase B signaling  positive regulation of protein glycosylation in Golgi  positive regulation of wound healing  regulation of establishment of cell polarity  
Ontology : EGO-EBIGolgi membrane  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  nucleoplasm  nucleolus  Golgi apparatus  trans-Golgi network  trans-Golgi network  cytosol  exocytosis  Golgi organization  endomembrane system organization  protein transport  nuclear matrix  myosin binding  small nuclear ribonucleoprotein complex  negative regulation of actin filament polymerization  neuron projection development  regulation of ARF protein signal transduction  protein kinase A regulatory subunit binding  negative regulation of GTPase activity  positive regulation of GTPase activity  perinuclear region of cytoplasm  positive regulation of protein kinase B signaling  positive regulation of protein glycosylation in Golgi  positive regulation of wound healing  regulation of establishment of cell polarity  
Pathways : BIOCARTAADP-Ribosylation Factor [Genes]   
NDEx NetworkARFGEF1
Atlas of Cancer Signalling NetworkARFGEF1
Wikipedia pathwaysARFGEF1
Orthology - Evolution
OrthoDB10565
GeneTree (enSembl)ENSG00000066777
Phylogenetic Trees/Animal Genes : TreeFamARFGEF1
HOVERGENQ9Y6D6
HOGENOMQ9Y6D6
Homologs : HomoloGeneARFGEF1
Homology/Alignments : Family Browser (UCSC)ARFGEF1
Gene fusions - Rearrangements
Fusion : MitelmanARFGEF1/CPA6 [8q13.2/8q13.2]  
Fusion : MitelmanNCOA2/ARFGEF1 [8q13.3/8q13.2]  [t(8;8)(q13;q13)]  
Fusion: TCGAARFGEF1 8q13.2 CPA6 8q13.2 BRCA
Fusion: TCGAARFGEF1 8q13.2 RP11-366K18.3 BRCA
Fusion: TCGANCOA2 8q13.3 ARFGEF1 8q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARFGEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARFGEF1
dbVarARFGEF1
ClinVarARFGEF1
1000_GenomesARFGEF1 
Exome Variant ServerARFGEF1
ExAC (Exome Aggregation Consortium)ARFGEF1 (select the gene name)
Genetic variants : HAPMAP10565
Genomic Variants (DGV)ARFGEF1 [DGVbeta]
DECIPHERARFGEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARFGEF1 
Mutations
ICGC Data PortalARFGEF1 
TCGA Data PortalARFGEF1 
Broad Tumor PortalARFGEF1
OASIS PortalARFGEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARFGEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARFGEF1
intOGen PortalARFGEF1
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 ARFGEF1
DgiDB (Drug Gene Interaction Database)ARFGEF1
DoCM (Curated mutations)ARFGEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARFGEF1 (select a term)
intoGenARFGEF1
Cancer3DARFGEF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604141   
Orphanet
MedgenARFGEF1
Genetic Testing Registry ARFGEF1
NextProtQ9Y6D6 [Medical]
TSGene10565
GENETestsARFGEF1
Target ValidationARFGEF1
Huge Navigator ARFGEF1 [HugePedia]
snp3D : Map Gene to Disease10565
BioCentury BCIQARFGEF1
ClinGenARFGEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10565
Chemical/Pharm GKB GenePA134908197
Clinical trialARFGEF1
Miscellaneous
canSAR (ICR)ARFGEF1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARFGEF1
EVEXARFGEF1
GoPubMedARFGEF1
iHOPARFGEF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 18:57:48 CEST 2017

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