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

    Gene ID: 10565, updated on 3-Dec-2024

    Summary

    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
    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
    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

    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: 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

    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

    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
    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
      Q9NV46, Q9UFV2, Q9UNL0, Q9Y6D6
    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
      UniProtKB/TrEMBL
      Q59FY5
      Related
      ENSP00000428429.2, ENST00000520381.5
    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
      Q9NV46, Q9UFV2, Q9UNL0, Q9Y6D6
      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: 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_047421266.1XP_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_054359587.1XP_054215562.1  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform X1