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    ARFGAP3 ARF GTPase activating protein 3 [ Homo sapiens (human) ]

    Gene ID: 26286, updated on 27-Nov-2024

    Summary

    Official Symbol
    ARFGAP3provided by HGNC
    Official Full Name
    ARF GTPase activating protein 3provided by HGNC
    Primary source
    HGNC:HGNC:661
    See related
    Ensembl:ENSG00000242247 MIM:612439; AllianceGenome:HGNC:661
    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
    ARFGAP1
    Summary
    The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 47.6), prostate (RPKM 36.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARFGAP3 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42796502..42857273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43277420..43338189, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43192508..43253279, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9313 Neighboring gene ADAMTS7 pseudogene 5 Neighboring gene dynamin 1 pseudogene 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43252438-43253282 Neighboring gene uncharacterized LOC101927393 Neighboring gene COA1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43277300-43277874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43277875-43278449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43278450-43279023 Neighboring gene protein kinase C and casein kinase substrate in neurons 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43293568-43294344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43294345-43295119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43300517-43301037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43301932-43302607 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43311964-43312742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43321567-43322365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43330023-43330539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43330540-43331055 Neighboring gene uncharacterized LOC124905128 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43335396-43335896

    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

    Clone Names

    • FLJ45618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 COPI coating of Golgi vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein secretion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    ADP-ribosylation factor GTPase-activating protein 3
    Names
    ADP ribosylation factor GTPase activating protein 3
    ADP-ribosylation factor GTPase activating protein 1
    ARF GAP 3

    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_001142293.2NP_001135765.1  ADP-ribosylation factor GTPase-activating protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AF111847, AK307967, AL049757, BQ019944, DB458974
      Consensus CDS
      CCDS46722.1
      UniProtKB/TrEMBL
      B7Z4Q0
      Related
      ENSP00000388791.2, ENST00000437119.6
      Conserved Domains (3) summary
      PLN03114
      Location:1420
      PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
      pfam01412
      Location:12106
      ArfGap; Putative GTPase activating protein for Arf
      pfam12329
      Location:202257
      TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    2. NM_014570.5NP_055385.3  ADP-ribosylation factor GTPase-activating protein 3 isoform 1

      See identical proteins and their annotated locations for NP_055385.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AF111847, AL049757, BC005122, BQ019944, DB458974
      Consensus CDS
      CCDS14042.1
      UniProtKB/Swiss-Prot
      E9PB03, Q9BSC6, Q9H9J0, Q9NP61, Q9NT10, Q9NUP5, Q9Y4V3, Q9Y4V4
      UniProtKB/TrEMBL
      B7Z4Q0, B7Z6L2
      Related
      ENSP00000263245.5, ENST00000263245.10
      Conserved Domains (3) summary
      PLN03114
      Location:1464
      PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
      pfam01412
      Location:12116
      ArfGap; Putative GTPase activating protein for Arf
      pfam12329
      Location:246301
      TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42796502..42857273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261525.5XP_005261582.1  ADP-ribosylation factor GTPase-activating protein 3 isoform X1

      UniProtKB/TrEMBL
      B7Z4Q0
      Conserved Domains (3) summary
      PLN03114
      Location:1420
      PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
      pfam01412
      Location:12116
      ArfGap; Putative GTPase activating protein for Arf
      pfam12329
      Location:246301
      TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43277420..43338189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325525.1XP_054181500.1  ADP-ribosylation factor GTPase-activating protein 3 isoform X1