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

Gene ID: 10565, updated on 27-Nov-2024

Summary

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Official Symbol
ARFGEF1provided by HGNC
Official Full Name
ARF guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:15772
See related
Ensembl:ENSG00000066777 MIM:604141; AllianceGenome:HGNC:15772
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; DEDISB; 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
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Genomic context

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See ARFGEF1 in Genome Data Viewer
Location:
8q13.2
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67173511..67343781, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67599967..67770273, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68085746..68256016, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr8:68012735-68012945 Neighboring gene RNA, 5S ribosomal pseudogene 268 Neighboring gene centrosome and spindle pole associated protein 1 Neighboring gene uncharacterized LOC124901956 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68153855-68154652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68221915-68222570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68222571-68223225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68255030-68255710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68261316-68261816 Neighboring gene ARFGEF1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12286 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68280925-68281630 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68281631-68282336 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68293145-68293756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27499 Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene carboxypeptidase A6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68424545-68425147 Neighboring gene uncharacterized LOC105375886 Neighboring gene NACA pseudogene 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei. Citterio C, et al. Proc Natl Acad Sci U S A, 2006 Feb 21. PMID 16467138, Free PMC Article
  2. BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis. Liu L, et al. Cell Death Dis, 2020 May 15. PMID 32415087, Free PMC Article
  3. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Thomas Q, et al. Genet Med, 2021 Oct. PMID 34113008
  4. p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Mansour SJ, et al. Proc Natl Acad Sci U S A, 1999 Jul 6. PMID 10393931, Free PMC Article
  5. The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells. Jiang L, et al. Bioengineered, 2022 Feb. PMID 35048795, Free PMC Article

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells.
    Title: The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells.
  2. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
    Title: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
  3. BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis.
    Title: BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis.
  4. BIG1 and BIG2 knockdown significantly decreased the levels of VEGF mRNA and protein in glioblastoma U251 cells and HUVECs. Furthermore, depletion of BIG1 and BIG2 inhibited HUVEC angiogenesis by diminishing cell migration.
    Title: Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.
  5. The findings provide structural insight into how Arf1 GEFs, and hence active Arf1, achieve their correct subcellular distribution.
    Title: Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.
  6. The data demonstrate a novel and unexpected function of BIG1 that regulates TNFR1 signaling by targeting TRAF2.
    Title: Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1) Governs the Recruitment of Tumor Necrosis Factor Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor Receptor 1 (TNFR1) Signaling Complexes.
  7. Both phospholipase D activity and vesicular trafficking were required for effects of BIG1 and BIG2 on beta-catenin activation. Levels of PKA-phosphorylated beta-catenin S675 and beta-catenin association with PKA, BIG1, and BIG2 were also diminished after BIG1/BIG2 depletion.
    Title: Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.
  8. Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
    Title: Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
  9. an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
    Title: The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).
  10. BIG1, through its ability to activate ADP-ribosylation factor 1, regulates cell-surface levels and function of ABCA1.
    Title: BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein modulates ATP-binding cassette transporter A-1 trafficking and function.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
MedGen: C5575272 OMIM: 619964 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZP434L057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables myosin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase A regulatory subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endomembrane system organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in exocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_positive_effect protein glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of small nuclear ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
brefeldin A-inhibited guanine nucleotide-exchange protein 1
Names
ADP ribosylation factor guanine nucleotide exchange factor 1
ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
p200 ARF guanine nucleotide exchange factor

NCBI Reference Sequences (RefSeq)

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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_001413184.1 → NP_001400113.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
    UniProtKB/Swiss-Prot
    Q9NV46, Q9UFV2, Q9UNL0, Q9Y6D6

  2. NM_001413185.1 → NP_001400114.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  3. NM_001413186.1 → NP_001400115.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  4. NM_001413187.1 → NP_001400116.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  5. NM_001413188.1 → NP_001400117.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  6. NM_001413189.1 → NP_001400118.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  7. NM_001413190.1 → NP_001400119.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  8. NM_001413191.1 → NP_001400120.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  9. NM_001413192.1 → NP_001400121.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  10. NM_001413193.1 → NP_001400122.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  11. NM_001413194.1 → NP_001400123.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  12. NM_001413195.1 → NP_001400124.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  13. NM_001413196.1 → NP_001400125.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
    Related
    ENSP00000428429.2, ENST00000520381.5

  14. NM_001413197.1 → NP_001400126.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

  15. NM_006421.5 → NP_006412.2  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1

    See identical proteins and their annotated locations for NP_006412.2

    Status: REVIEWED

    Source sequence(s)
    AC021321, AF111162, AI692863, AL117446, CA314908
    Consensus CDS
    CCDS6199.1
    UniProtKB/Swiss-Prot
    Q9NV46, Q9UFV2, Q9UNL0, Q9Y6D6
    Related
    ENSP00000262215.3, ENST00000262215.8
    Conserved Domains (5) summary
    PLN03076
    Location:15 → 1766
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    pfam01369
    Location:698 → 882
    Sec7; Sec7 domain
    pfam09324
    Location:1220 → 1301
    DUF1981; Domain of unknown function (DUF1981)
    pfam12783
    Location:419 → 573
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
    pfam16213
    Location:29 → 210
    DCB; Dimerization and cyclophilin-binding domain of Mon2

RNA

  1. NR_182117.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    67173511..67343781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421266.1 → XP_047277222.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    67599967..67770273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359587.1 → XP_054215562.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6D6.2 GenPept UniProtKB/Swiss-Prot:Q9Y6D6

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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