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    ARF1 ARF GTPase 1 [ Homo sapiens (human) ]

    Gene ID: 375, updated on 12-Nov-2024

    Summary

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    Official Symbol
    ARF1provided by HGNC
    Official Full Name
    ARF GTPase 1provided by HGNC
    Primary source
    HGNC:HGNC:652
    See related
    Ensembl:ENSG00000143761 MIM:103180; AllianceGenome:HGNC:652
    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
    PVNH8
    Summary
    ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a 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. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 152.3), thyroid (RPKM 137.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARF1 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228082708..228099212)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227271693..227288198)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228270409..228286913)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Wnt family member 3A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228223992-228224955 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:228236665-228236871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228251567-228252540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228262596-228263096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228263097-228263597 Neighboring gene long intergenic non-protein coding RNA 2809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228283911-228284880 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228289072-228289792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228289793-228290512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228290513-228291233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228291234-228291953 Neighboring gene microRNA 3620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228295219-228295933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228295934-228296647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2690 Neighboring gene chromosome 1 open reading frame 35 Neighboring gene mitochondrial ribosomal protein L55

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
      Title: Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
    2. Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation.
      Title: Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation.
    3. THUMPD3-AS1 inhibits ovarian cancer cell apoptosis through the miR-320d/ARF1 axis.
      Title: THUMPD3-AS1 inhibits ovarian cancer cell apoptosis through the miR-320d/ARF1 axis.
    4. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
      Title: ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
    5. ARF1-related disorder: phenotypic and molecular spectrum.
      Title: ARF1-related disorder: phenotypic and molecular spectrum.
    6. Proximity labeling of endogenous RICTOR identifies mTOR complex 2 regulation by ADP ribosylation factor ARF1.
      Title: Proximity labeling of endogenous RICTOR identifies mTOR complex 2 regulation by ADP ribosylation factor ARF1.
    7. ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
      Title: ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
    8. Cross Talk between ARF1 and RhoA Coordinates the Formation of Cytoskeletal Scaffolds during Chlamydia Infection.
      Title: Cross Talk between ARF1 and RhoA Coordinates the Formation of Cytoskeletal Scaffolds during Chlamydia Infection.
    9. Plumbagin suppresses non-small cell lung cancer progression through downregulating ARF1 and by elevating CD8(+) T cells.
      Title: Plumbagin suppresses non-small cell lung cancer progression through downregulating ARF1 and by elevating CD8(+) T cells.
    10. Downregulation of long non-coding RNA LINC00460 inhibits the proliferation, migration and invasion, and promotes apoptosis of pancreatic cancer cells via modulation of the miR-320b/ARF1 axis.
      Title: Downregulation of long non-coding RNA LINC00460 inhibits the proliferation, migration and invasion, and promotes apoptosis of pancreatic cancer cells via modulation of the miR-320b/ARF1 axis.
    Submit: New GeneRIF Correction See all GeneRIFs (107)

    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

    Associated conditions

    Description Tests
    Periventricular nodular heterotopia 8
    MedGen: C4748602 OMIM: 618185 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ADP-ribosylation factor 1 (ARF1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Functional ARF1 is required for HIV-1 Nef-dependent endogenous HLA-A2 and CD4 downregulation in HIV-infected primary T cells PubMed
    nef Dominant active ARF1 (Q71L) potently stabilizes interactions among AP-1 mu1, HIV-1 Nef, and HLA-A2 and that the formation of a static complex sequesters necessary trafficking components PubMed
    nef Nef binds GTPase ARF1 directly via residues E154 and E155 and recruits the GTPase to endosomal membranes PubMed
    Pr55(Gag) gag GGA-mediated inhibition of virus particle release results from ARF1 sequestration, suggesting the interaction between HIV-1 Gag and ARF1 PubMed

    Go to the HIV-1, Human Interaction Database

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables RNA binding HDA PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dendritic spine organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-term synaptic depression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic cleavage furrow ingression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Arp2/3 complex-mediated actin nucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor 1
    Names
    ADP ribosylation factor 1
    NP_001019397.1
    NP_001019398.1
    NP_001019399.1
    NP_001649.1

    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_001024226.2 → NP_001019397.1  ADP-ribosylation factor 1

      See identical proteins and their annotated locations for NP_001019397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate and shorter 5' UTR, as compared to variant 1.
      Source sequence(s)
      AK000620, BF337061, BM844480
      Consensus CDS
      CCDS1565.1
      UniProtKB/Swiss-Prot
      P10947, P32889, P84077
      UniProtKB/TrEMBL
      B4DEB9
      Related
      ENSP00000514653.1, ENST00000478424.5
      Conserved Domains (1) summary
      smart00177
      Location:5 → 179
      ARF; ARF-like small GTPases; ARF, ADP-ribosylation factor

    2. NM_001024227.1 → NP_001019398.1  ADP-ribosylation factor 1

      See identical proteins and their annotated locations for NP_001019398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AK000620, BF337061, BG421840, BQ935470
      Consensus CDS
      CCDS1565.1
      UniProtKB/Swiss-Prot
      P10947, P32889, P84077
      UniProtKB/TrEMBL
      B4DEB9
      Related
      ENSP00000514657.1, ENST00000478336.5
      Conserved Domains (1) summary
      smart00177
      Location:5 → 179
      ARF; ARF-like small GTPases; ARF, ADP-ribosylation factor

    3. NM_001024228.2 → NP_001019399.1  ADP-ribosylation factor 1

      See identical proteins and their annotated locations for NP_001019399.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AK000620, AL136379, BF337061, BM353046, BQ949763
      Consensus CDS
      CCDS1565.1
      UniProtKB/Swiss-Prot
      P10947, P32889, P84077
      UniProtKB/TrEMBL
      B4DEB9
      Related
      ENSP00000514658.1, ENST00000469235.5
      Conserved Domains (1) summary
      smart00177
      Location:5 → 179
      ARF; ARF-like small GTPases; ARF, ADP-ribosylation factor

    4. NM_001658.4 → NP_001649.1  ADP-ribosylation factor 1

      See identical proteins and their annotated locations for NP_001649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate and shorter 5' UTR, as compared to variant 1.
      Source sequence(s)
      AK000620, BF337061
      Consensus CDS
      CCDS1565.1
      UniProtKB/Swiss-Prot
      P10947, P32889, P84077
      UniProtKB/TrEMBL
      B4DEB9
      Related
      ENSP00000272102.5, ENST00000272102.10
      Conserved Domains (1) summary
      smart00177
      Location:5 → 179
      ARF; ARF-like small GTPases; ARF, ADP-ribosylation factor

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      228082708..228099212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      227271693..227288198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P84077.2 GenPept UniProtKB/Swiss-Prot:P84077

    Gene LinkOut

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

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