ARF1 ARF GTPase 1 [Homo sapiens (human)] - Gene

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
Title: Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
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.
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.
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.
ARF1-related disorder: phenotypic and molecular spectrum.
Title: ARF1-related disorder: phenotypic and molecular spectrum.
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.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
Title: ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
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.
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.
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	Compare labs

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ARF1_1579 (e-PCR)
- UniSTS:277007

RH80951 (e-PCR)
- UniSTS:84614

RH64921 (e-PCR)
- UniSTS:84615

D1S3252 (e-PCR)
- UniSTS:74407

RH79647 (e-PCR)
- UniSTS:90340

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 more info	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 more info	PubMed
located_in focal adhesion	HDA more info	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

EC 3.6.5.2

NP_001019398.1

EC 3.6.5.2

NP_001019399.1

EC 3.6.5.2

NP_001649.1

EC 3.6.5.2

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)

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
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
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
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