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    ARFGAP1 ADP ribosylation factor GTPase activating protein 1 [ Homo sapiens (human) ]

    Gene ID: 55738, updated on 8-Dec-2022

    Summary

    Official Symbol
    ARFGAP1provided by HGNC
    Official Full Name
    ADP ribosylation factor GTPase activating protein 1provided by HGNC
    Primary source
    HGNC:HGNC:15852
    See related
    Ensembl:ENSG00000101199 MIM:608377; AllianceGenome:HGNC:15852
    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
    ARF1GAP; HRIHFB2281
    Summary
    The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in spleen (RPKM 11.8), testis (RPKM 11.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARFGAP1 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63272813..63289790)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65078693..65095673)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61904165..61921142)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904950 Neighboring gene sodium/potassium transporting ATPase interacting 4 Neighboring gene uncharacterized LOC100192386 Neighboring gene microRNA 4326 Neighboring gene collagen type XX alpha 1 chain Neighboring gene RNA, U6 small nuclear 994, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC39924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ARF protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ADP-ribosylation factor GTPase-activating protein 1
    Names
    ARF1-directed GTPase-activating protein

    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_001281482.2NP_001268411.1  ADP-ribosylation factor GTPase-activating protein 1 isoform c

      See identical proteins and their annotated locations for NP_001268411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, which results in a translational frameshift, compared to variant 2. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform b.
      Source sequence(s)
      AA565406, BC000786, DC300118
      Consensus CDS
      CCDS63326.1
      UniProtKB/Swiss-Prot
      Q8N6T3
      Related
      ENSP00000359298.4, ENST00000370275.8
      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf
    2. NM_001281483.2NP_001268412.1  ADP-ribosylation factor GTPase-activating protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform b.
      Source sequence(s)
      AA565406, AK296351, BC000786
      Consensus CDS
      CCDS63327.1
      UniProtKB/Swiss-Prot
      Q8N6T3
      Related
      ENSP00000430500.1, ENST00000519604.5
      Conserved Domains (1) summary
      cl02464
      Location:461
      ArfGap; Putative GTPase activating protein for Arf
    3. NM_001281484.2NP_001268413.1  ADP-ribosylation factor GTPase-activating protein 1 isoform e

      See identical proteins and their annotated locations for NP_001268413.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two exons in the 5' and central coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform b.
      Source sequence(s)
      AA565406, AK303454, AK308161, BC000786, DC404137
      Consensus CDS
      CCDS63328.1
      UniProtKB/Swiss-Prot
      Q8N6T3
      Related
      ENSP00000443716.1, ENST00000519273.6
    4. NM_018209.4NP_060679.1  ADP-ribosylation factor GTPase-activating protein 1 isoform a

      See identical proteins and their annotated locations for NP_060679.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. The encoded isoform (a) is shorter, compared to isoform b.
      Source sequence(s)
      AA565406, AK223427, BC000786, BC028233, DC300118
      Consensus CDS
      CCDS13515.1
      UniProtKB/Swiss-Prot
      Q8N6T3, Q9UIL0
      UniProtKB/TrEMBL
      Q53F62
      Related
      ENSP00000359306.4, ENST00000370283.9
      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf
    5. NM_175609.3NP_783202.1  ADP-ribosylation factor GTPase-activating protein 1 isoform b

      See identical proteins and their annotated locations for NP_783202.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      AA565406, BC011876, BC028233, DC300118
      Consensus CDS
      CCDS13516.1
      UniProtKB/Swiss-Prot
      Q8N6T3
      Related
      ENSP00000314615.3, ENST00000353546.7
      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf

    RNA

    1. NR_104022.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' exon structure, compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, and does not encode a supported protein.
      Source sequence(s)
      AL121827
      Related
      ENST00000468975.6
    2. NR_104023.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate 5' exon structure, compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, and does not encode a supported protein.
      Source sequence(s)
      AA565406, BC000786, BC127893, BQ717837

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63272813..63289790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440287.1XP_047296243.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9UIL0
    2. XM_047440288.1XP_047296244.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X3

    3. XM_011528901.2XP_011527203.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X1

      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf
    4. XM_006723823.3XP_006723886.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006723886.1

      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf
    5. XM_047440289.1XP_047296245.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X4

    6. XM_047440290.1XP_047296246.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X4

    7. XM_047440291.1XP_047296247.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X5

    8. XM_017027950.2XP_016883439.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X1

      Conserved Domains (1) summary
      pfam01412
      Location:7114
      ArfGap; Putative GTPase activating protein for Arf

    RNA

    1. XR_001754329.2 RNA Sequence

    2. XR_007067465.1 RNA Sequence

    3. XR_007067467.1 RNA Sequence

    4. XR_007067466.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65078693..65095673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)