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ARF1 ADP ribosylation factor 1 [ Homo sapiens (human) ]

Gene ID: 375, updated on 26-Sep-2023

Summary

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Official Symbol
ARF1provided by HGNC
Official Full Name
ADP ribosylation factor 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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228082708..228099212)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227271693..227288198)
105.20220307 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 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 H3K4me1 hESC enhancer GRCh37_chr1:228283911-228284880 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 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 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
  • 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. ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity. Gana S, et al. J Med Genet, 2022 Aug. PMID 34353862
  2. Plumbagin suppresses non-small cell lung cancer progression through downregulating ARF1 and by elevating CD8(+) T cells. Jiang ZB, et al. Pharmacol Res, 2021 Jul. PMID 33964470
  3. Structural characterization of an Arf dimer interface: molecular mechanism of Arf-dependent membrane scission. Diestelkoetter-Bachert P, et al. FEBS Lett, 2020 Jul. PMID 32394429
  4. Combined targeting of Arf1 and Ras potentiates anticancer activity for prostate cancer therapeutics. Lang L, et al. J Exp Clin Cancer Res, 2017 Aug 23. PMID 28830537, Free PMC Article
  5. A novel physiological role for ARF1 in the formation of bidirectional tubules from the Golgi. Bottanelli F, et al. Mol Biol Cell, 2017 Jun 15. PMID 28428254, Free PMC Article

See all (271) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ARF1-related disorder: phenotypic and molecular spectrum.
    Title: ARF1-related disorder: phenotypic and molecular spectrum.
  2. 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.
  3. ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
    Title: ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
  4. 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.
  5. 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.
  6. 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.
  7. Gbetagamma translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.
    Title: Gβγ translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.
  8. Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.
    Title: Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.
  9. miR-744-5p inhibits cellular proliferation and invasion via targeting ARF1 in epithelial ovarian cancer.
    Title: miR-744-5p inhibits cellular proliferation and invasion via targeting ARF1 in epithelial ovarian cancer.
  10. Upregulation of 5'-terminal oligopyrimidine mRNA translation upon loss of the ARF tumor suppressor.
    Title: Upregulation of 5'-terminal oligopyrimidine mRNA translation upon loss of the ARF tumor suppressor.
Submit: New GeneRIF Correction See all GeneRIFs (103)

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
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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

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
 PubMed 
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
 PubMed 
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
 PubMed 
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
 PubMed 
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
 PubMed 
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
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
    A0A024R3Q0, A0A024R3Q3, 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
    A0A024R3Q0, A0A024R3Q3, 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
    A0A024R3Q0, A0A024R3Q3, 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
    A0A024R3Q0, A0A024R3Q3, 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_2023_03

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

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