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

Gene ID: 10565, updated on 4-Dec-2022

Summary

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; 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
NEW
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Genomic context

See ARFGEF1 in Genome Data Viewer
Location:
8q13.2
Exon count:
41
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67173511..67343781, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67624118..67770273, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68109893..68256016, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene centrosome and spindle pole associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 268 Neighboring gene uncharacterized LOC124901956 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene ARFGEF1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12286 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
MedGen: CN315959 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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
    UniProtKB/Swiss-Prot
    Q9UNL0
    UniProtKB/TrEMBL
    A0A024R7X0
  2. NM_001413185.1NP_001400114.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  3. NM_001413186.1NP_001400115.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  4. NM_001413187.1NP_001400116.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  5. NM_001413188.1NP_001400117.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  6. NM_001413189.1NP_001400118.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  7. NM_001413190.1NP_001400119.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  8. NM_001413191.1NP_001400120.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  9. NM_001413192.1NP_001400121.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  10. NM_001413193.1NP_001400122.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  11. NM_001413194.1NP_001400123.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  12. NM_001413195.1NP_001400124.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  13. NM_001413196.1NP_001400125.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  14. NM_001413197.1NP_001400126.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359
  15. NM_006421.5NP_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
    Q9UNL0, Q9Y6D6
    UniProtKB/TrEMBL
    A0A024R7X0
    Related
    ENSP00000262215.3, ENST00000262215.8
    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

RNA

  1. NR_182117.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021321, AC087359

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047421265.1XP_047277221.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X4

  2. XM_005251136.5XP_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
  3. XM_005251135.5XP_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
  4. XM_005251134.6XP_005251191.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X1

    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
  5. XM_047421266.1XP_047277222.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    67624118..67770273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)