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ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 10565, updated on 8-Jul-2018
Official Symbol
ARFGEF1provided by HGNC
Official Full Name
ADP ribosylation factor guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:15772
See related
Ensembl:ENSG00000066777 MIM:604141; Vega:OTTHUMG00000164626
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BIG1; P200; ARFGEP1
Summary
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in testis (RPKM 17.7), thyroid (RPKM 13.6) and 25 other tissues See more
Orthologs
See ARFGEF1 in Genome Data Viewer
Location:
8q13.2
Exon count:
40
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (67174298..67343824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68085746..68255912, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene COP9 signalosome subunit 5 Neighboring gene RNA, 5S ribosomal pseudogene 268 Neighboring gene centrosome and spindle pole associated protein 1 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene uncharacterized LOC102724708 Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene carboxypeptidase A6 Neighboring gene uncharacterized LOC105375886 Neighboring gene NACA pseudogene 10

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ADP-ribosylation factor guanine nucleotide-exchange factor 1 (ARFGEF1; BIG1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZP434L057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
myosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
endomembrane system organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
exocytosis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein glycosylation in Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
small nuclear ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
brefeldin A-inhibited guanine nucleotide-exchange protein 1
Names
ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
p200 ARF guanine nucleotide exchange factor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006421.4NP_006412.2  brefeldin A-inhibited guanine nucleotide-exchange protein 1

    See identical proteins and their annotated locations for NP_006412.2

    Status: REVIEWED

    Source sequence(s)
    AF111162, AI692863, AL117446, CA314908
    Consensus CDS
    CCDS6199.1
    UniProtKB/Swiss-Prot
    Q9Y6D6
    UniProtKB/TrEMBL
    A0A024R7X0
    Related
    ENSP00000262215.3, OTTHUMP00000227052, ENST00000262215.7, OTTHUMT00000379441
    Conserved Domains (5) summary
    PLN03076
    Location:151766
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    pfam01369
    Location:698882
    Sec7; Sec7 domain
    pfam09324
    Location:12201301
    DUF1981; Domain of unknown function (DUF1981)
    pfam12783
    Location:419573
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
    pfam16213
    Location:29210
    DCB; Dimerization and cyclophilin-binding domain of Mon2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    67174298..67343824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251136.4XP_005251193.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X3

    Conserved Domains (5) summary
    PLN03076
    Location:151766
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    pfam01369
    Location:698882
    Sec7; Sec7 domain
    pfam09324
    Location:12201301
    DUF1981; Domain of unknown function (DUF1981)
    pfam12783
    Location:419573
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
    pfam16213
    Location:29210
    DCB; Dimerization and cyclophilin-binding domain of Mon2
  2. XM_005251134.5XP_005251191.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005251191.1

    UniProtKB/Swiss-Prot
    Q9Y6D6
    UniProtKB/TrEMBL
    A0A024R7X0
    Conserved Domains (5) summary
    PLN03076
    Location:151766
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    pfam01369
    Location:698882
    Sec7; Sec7 domain
    pfam09324
    Location:12201301
    DUF1981; Domain of unknown function (DUF1981)
    pfam12783
    Location:419573
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
    pfam16213
    Location:29210
    DCB; Dimerization and cyclophilin-binding domain of Mon2
  3. XM_005251135.4XP_005251192.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X2

    Conserved Domains (5) summary
    PLN03076
    Location:151760
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    pfam01369
    Location:698882
    Sec7; Sec7 domain
    pfam09324
    Location:12201301
    DUF1981; Domain of unknown function (DUF1981)
    pfam12783
    Location:419573
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
    pfam16213
    Location:29210
    DCB; Dimerization and cyclophilin-binding domain of Mon2
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