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    ARF3 ARF GTPase 3 [ Homo sapiens (human) ]

    Gene ID: 377, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ARF3provided by HGNC
    Official Full Name
    ARF GTPase 3provided by HGNC
    Primary source
    HGNC:HGNC:654
    See related
    Ensembl:ENSG00000134287 MIM:103190; AllianceGenome:HGNC:654
    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
    Summary
    ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]
    Expression
    Ubiquitous expression in brain (RPKM 69.0), colon (RPKM 28.8) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See ARF3 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48935723..48957487, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48892453..48919687, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49329506..49351270, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4414 Neighboring gene ribosomal protein L32 pseudogene 27 Neighboring gene coiled-coil domain containing 65 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6296 Neighboring gene FKBP prolyl isomerase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49338542-49339042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49340991-49341204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49341223-49341815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49349467-49350462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6297 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49353706-49353915 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49358123-49358716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49360112-49360664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49361393-49362276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4416 Neighboring gene Sharpr-MPRA regulatory region 4091 Neighboring gene Wnt family member 10B

    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 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. Heregulin promotes expression and subcellular redistribution of ADP-ribosylation factor 3. Li F, et al. FEBS Lett, 2002 Jul 31. PMID 12135740
    2. Neurodevelopmental disorder associated with gene ARF3: A case report. Dos Santos Henrique S, et al. Am J Med Genet A, 2024 Sep. PMID 38712921
    3. Characterization of the human ADP-ribosylation factor 3 promoter. Transcriptional regulation of a TATA-less promoter. Haun RS, et al. J Biol Chem, 1993 Apr 25. PMID 8473323
    4. Arf3 is activated uniquely at the trans-Golgi network by brefeldin A-inhibited guanine nucleotide exchange factors. Manolea F, et al. Mol Biol Cell, 2010 Jun 1. PMID 20357002, Free PMC Article
    5. Isolation and characterization of the human gene for ADP-ribosylation factor 3, a 20-kDa guanine nucleotide-binding protein activator of cholera toxin. Tsai SC, et al. J Biol Chem, 1991 Dec 5. PMID 1744102

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The small GTPase ARF3 controls invasion modality and metastasis by regulating N-cadherin levels.
      Title: The small GTPase ARF3 controls invasion modality and metastasis by regulating N-cadherin levels.
    2. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
      Title: Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
    3. Upregulation of ARF3 is associated with ovarian cancer.
      Title: Overexpression of ARF1 is associated with cell proliferation and migration through PI3K signal pathway in ovarian cancer.
    4. observations indicate that Arf1 and Arf3 as well as Arf6 play important roles in cytokinesis.
      Title: Class I Arfs (Arf1 and Arf3) and Arf6 are localized to the Flemming body and play important roles in cytokinesis.
    5. activated ARF3 is associated with Unc93B1 and TLR9, suggesting that ARF3 conducts TLR9 trafficking by forming the TLR9-Unc93B1-ARF3 complex.
      Title: ADP-Ribosylation Factor 3 Mediates Cytidine-Phosphate-Guanosine Oligodeoxynucleotide-Induced Responses by Regulating Toll-Like Receptor 9 Trafficking.
    6. ARF1+ARF3 are required for integrity of recycling endosomes but are involved in distinct transport pathways: they are required for the transferrin recycling pathway from endosomes to the plasma membrane.
      Title: ARF1 and ARF4 regulate recycling endosomal morphology and retrograde transport from endosomes to the Golgi apparatus.
    7. ARF1 and ARF3 are redundantly required for the integrity of recycling endosomes
      Title: ARF1 and ARF3 are required for the integrity of recycling endosomes and the recycling pathway.
    8. These results suggest that Arf3 plays a unique function at the trans-Golgi network that likely involves recruitment by a specific receptor.
      Title: Arf3 is activated uniquely at the trans-Golgi network by brefeldin A-inhibited guanine nucleotide exchange factors.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor 3
    Names
    ADP ribosylation factor 3
    small GTP binding protein

    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_001412914.1 → NP_001399843.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    2. NM_001412915.1 → NP_001399844.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    3. NM_001412916.1 → NP_001399845.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    4. NM_001412918.1 → NP_001399847.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    5. NM_001412920.1 → NP_001399849.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    6. NM_001412926.1 → NP_001399855.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    7. NM_001412928.1 → NP_001399857.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    8. NM_001412930.1 → NP_001399859.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    9. NM_001412931.1 → NP_001399860.1  ADP-ribosylation factor 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC073610
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204

    10. NM_001412932.1 → NP_001399861.1  ADP-ribosylation factor 3 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC073610
      Related
      ENSP00000395370.2, ENST00000447318.6

    11. NM_001659.3 → NP_001650.1  ADP-ribosylation factor 3 isoform a

      See identical proteins and their annotated locations for NP_001650.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1-10 all encode the same isoform (a).
      Source sequence(s)
      AC073610
      Consensus CDS
      CCDS8774.1
      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204
      UniProtKB/TrEMBL
      B4DEB9
      Related
      ENSP00000256682.4, ENST00000256682.9
      Conserved Domains (1) summary
      cl38936
      Location:5 → 179
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48935723..48957487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448972.2 → XP_024304740.1  ADP-ribosylation factor 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204
      UniProtKB/TrEMBL
      B4DEB9
      Conserved Domains (1) summary
      cl38936
      Location:5 → 179
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48892453..48919687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372007.1 → XP_054227982.1  ADP-ribosylation factor 3 isoform X2

    2. XM_054372006.1 → XP_054227981.1  ADP-ribosylation factor 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K6G8, B7ZB63, P16587, P61204
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61204.2 GenPept UniProtKB/Swiss-Prot:P61204

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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