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ARFGAP3 ADP ribosylation factor GTPase activating protein 3 [ Homo sapiens (human) ]

Gene ID: 26286, updated on 3-Apr-2024

Summary

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Official Symbol
ARFGAP3provided by HGNC
Official Full Name
ADP ribosylation factor 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
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Genomic context

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See ARFGAP3 in Genome Data Viewer
Location:
22q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42796502..42857273, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43277420..43338189, complement)
105.20220307 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

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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. Expression of ArfGAP3 in Vaginal Anterior Wall of Patients With Pelvic Floor Organ Prolapse in Pelvic Organ Prolapse and Non-Pelvic Organ Prolapse Patients. Sun Y, et al. Female Pelvic Med Reconstr Surg, 2021 Jan 1. PMID 31868832, Free PMC Article
  2. ArfGAP3 regulates the transport of cation-independent mannose 6-phosphate receptor in the post-Golgi compartment. Shiba Y, et al. Curr Biol, 2013 Oct 7. PMID 24076238, Free PMC Article
  3. ARFGAP3, an androgen target gene, promotes prostate cancer cell proliferation and migration. Obinata D, et al. Int J Cancer, 2012 May 15. PMID 21647875
  4. Two human ARFGAPs associated with COP-I-coated vesicles. Frigerio G, et al. Traffic, 2007 Nov. PMID 17760859, Free PMC Article
  5. Functional characterization of novel human ARFGAP3. Liu X, et al. FEBS Lett, 2001 Feb 9. PMID 11172815

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of ArfGAP3 in Vaginal Anterior Wall of Patients With Pelvic Floor Organ Prolapse in Pelvic Organ Prolapse and Non-Pelvic Organ Prolapse Patients.
    Title: Expression of ArfGAP3 in Vaginal Anterior Wall of Patients With Pelvic Floor Organ Prolapse in Pelvic Organ Prolapse and Non-Pelvic Organ Prolapse Patients.
  2. We suggest a model in which ArfGAP3 regulates Golgi association of GGA clathrin adaptors.
    Title: ArfGAP3 regulates the transport of cation-independent mannose 6-phosphate receptor in the post-Golgi compartment.
  3. our results suggest that ARFGAP3 is a novel androgen-regulated gene that can promote prostate cancer cell proliferation and migration in collaboration with paxillin.
    Title: ARFGAP3, an androgen target gene, promotes prostate cancer cell proliferation and migration.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. ArfGAP1, ArfGAP2, and ArfGAP3 have overlapping roles in regulating COPI function in Golgi-to-ER retrograde transport.
    Title: Three homologous ArfGAPs participate in coat protein I-mediated transport.
  6. Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking
    Title: Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking.
  7. human ARFGAP2 and ARFGAP3 are associated with COP-I-coated vesicles and function in COP I traffic
    Title: Two human ARFGAPs associated with COP-I-coated vesicles.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • 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

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

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_001142293.2 → NP_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:1 → 420
    PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
    pfam01412
    Location:12 → 106
    ArfGap; Putative GTPase activating protein for Arf
    pfam12329
    Location:202 → 257
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

  2. NM_014570.5 → NP_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:1 → 464
    PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
    pfam01412
    Location:12 → 116
    ArfGap; Putative GTPase activating protein for Arf
    pfam12329
    Location:246 → 301
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_005261525.5 → XP_005261582.1  ADP-ribosylation factor GTPase-activating protein 3 isoform X1

    UniProtKB/TrEMBL
    B7Z4Q0
    Conserved Domains (3) summary
    PLN03114
    Location:1 → 420
    PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
    pfam01412
    Location:12 → 116
    ArfGap; Putative GTPase activating protein for Arf
    pfam12329
    Location:246 → 301
    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_054325525.1 → XP_054181500.1  ADP-ribosylation factor GTPase-activating protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP61.1 GenPept UniProtKB/Swiss-Prot:Q9NP61

Gene LinkOut

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