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ARL1 ARF like GTPase 1 [ Homo sapiens (human) ]

Gene ID: 400, updated on 3-Nov-2024

Summary

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Official Symbol
ARL1provided by HGNC
Official Full Name
ARF like GTPase 1provided by HGNC
Primary source
HGNC:HGNC:692
See related
Ensembl:ENSG00000120805 MIM:603425; AllianceGenome:HGNC:692
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
ARFL1
Summary
The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in thyroid (RPKM 47.8), prostate (RPKM 38.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ARL1 in Genome Data Viewer
Location:
12q23.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101393116..101407820, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101354234..101368938, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (101786894..101801598, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S6 pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:101673582-101674173 Neighboring gene UTP20 small subunit processome component Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:101693090-101694289 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101779819-101780033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6863 Neighboring gene RNA, U6 small nuclear 1068, pseudogene Neighboring gene ribosomal protein S27 pseudogene 23

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. Arfaptins are localized to the trans-Golgi by interaction with Arl1, but not Arfs. Man Z, et al. J Biol Chem, 2011 Apr 1. PMID 21239483, Free PMC Article
  2. Different ARF domains are required for the activation of cholera toxin and phospholipase D. Zhang GF, et al. J Biol Chem, 1995 Jan 6. PMID 7814376
  3. Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi. Galindo A, et al. Cell Rep, 2016 Jul 19. PMID 27373159, Free PMC Article
  4. ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein. Feng HP, et al. FASEB J, 2021 Apr. PMID 33715220
  5. Structural basis for membrane binding specificity of the Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin-2 determined by Arl1 GTPase. Nakamura K, et al. J Biol Chem, 2012 Jul 20. PMID 22679020, Free PMC Article

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein.
    Title: ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein.
  2. The ARFRP1 functions upstream of two other ARL GTPases, ARL1 and ARL5, which in turn recruit golgins and GARP, respectively, to the trans-Golgi network (TGN).
    Title: ARFRP1 functions upstream of ARL1 and ARL5 to coordinate recruitment of distinct tethering factors to the trans-Golgi network.
  3. Plasticity allows Arl1 to interact with different effectors of unrelated structure.
    Title: Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.
  4. Together the findings indicate that Arl1 links Rab4-dependent formation of endosomal sorting domains with downstream assembly of adaptor protein complexes that constitute the endosomal sorting machinery.
    Title: Rab4 orchestrates a small GTPase cascade for recruitment of adaptor proteins to early endosomes.
  5. results demonstrate that activated Arl1p can promote the spatial modulation of membrane organization at the trans-Golgi network through interacting with the effectors Gea2p and Drs2p
    Title: Arl1p regulates spatial membrane organization at the trans-Golgi network through interaction with Arf-GEF Gea2p and flippase Drs2p.
  6. The Arl1.Arfaptin-2 BAR structure suggests that one of the two Arl1 molecules competes with Rac1, which binds to the concave face of the Arfaptin-2 BAR homodimer and may hinder its membrane association.
    Title: Structural basis for membrane binding specificity of the Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin-2 determined by Arl1 GTPase.
  7. arfaptins are recruited onto trans-Golgi membranes by interacting with Arl1, and capable of inducing membrane deformation via their BAR domains.
    Title: Arfaptins are localized to the trans-Golgi by interaction with Arl1, but not Arfs.
  8. Study demonstrates that Golgi recruitment of endogenous GCC185 does not involve Rab6A/A' and Arl1.
    Title: The localization of the Golgin GCC185 is independent of Rab6A/A' and Arl1.
  9. Results show that ARL1 and ARFRP1 regulate retrograde transport of Shiga toxin to the TGN and anterograde transport of VSVG from the TGN, respectively.
    Title: Differential effects of depletion of ARL1 and ARFRP1 on membrane trafficking between the trans-Golgi network and endosomes.
  10. Data show that Arl1 regulates the membrane recruitment of Golgin-97, which plays a role in transport from the endosome to the trans-Golgi network.
    Title: Autoantigen Golgin-97, an effector of Arl1 GTPase, participates in traffic from the endosome to the trans-golgi network.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
EBI GWAS Catalog

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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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ADP-ribosylation factor-like 1 (ARL1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ADP-ribosylation factor-like 1 (ARL1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify ADP-ribosylation factor-like 1 (ARL1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ADP-ribosylation factor-like 1 (ARL1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells 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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase D activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in toxin metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ADP-ribosylation factor-like protein 1
Names
ADP ribosylation factor like GTPase 1
ADP-ribosylation factor-like 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_001177.6 → NP_001168.1  ADP-ribosylation factor-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001168.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC063948, AI802608, BX537387
    Consensus CDS
    CCDS44958.1
    UniProtKB/Swiss-Prot
    B4DWW1, P40616, P80417, Q53XB1
    UniProtKB/TrEMBL
    B4DR16
    Related
    ENSP00000261636.8, ENST00000261636.13
    Conserved Domains (1) summary
    cd04151
    Location:19 → 176
    Arl1; ADP ribosylation factor 1 (Arf1)

  2. NM_001301068.1 → NP_001287997.1  ADP-ribosylation factor-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001287997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC063948, AI802608, AK302911, DC343685
    Consensus CDS
    CCDS73510.1
    UniProtKB/TrEMBL
    B4DZG7
    Related
    ENSP00000439590.1, ENST00000539055.5
    Conserved Domains (1) summary
    cl21455
    Location:3 → 130
    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
    101393116..101407820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    101354234..101368938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P40616.1 GenPept UniProtKB/Swiss-Prot:P40616

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