ARL3 ARF like GTPase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL3provided by HGNC
Official Full Name: ARF like GTPase 3provided by HGNC
Primary source: HGNC:HGNC:694
See related: Ensembl:ENSG00000138175 MIM:604695; AllianceGenome:HGNC:694
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: RP83; ARFL3; JBTS35
Summary: Enables GDP binding activity; GTP binding activity; and microtubule binding activity. Involved in several processes, including cilium assembly; protein localization to cilium; and small GTPase-mediated signal transduction. Acts upstream of or within post-Golgi vesicle-mediated transport. Located in several cellular components, including microtubule cytoskeleton; midbody; and photoreceptor connecting cilium. Implicated in Joubert syndrome and retinitis pigmentosa 83. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 13.2), kidney (RPKM 7.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102673731..102714397, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103559565..103600213, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (104433488..104474154, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3[T31A] and ARL3[T31A/C118F] mutations.
Title: Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3(T31A) and ARL3(T31A/C118F) mutations.
Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.
Title: Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.
ARL3 activation requires the co-GEF BART and effector-mediated turnover.
Title: ARL3 activation requires the co-GEF BART and effector-mediated turnover.
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Title: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials.
Title: Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials.
Low ARL3 expression predicted poor prognosis and contributed to antiangiogenesis and the proportion of infiltrating immune cells in the GBM microenvironment. Thus, ARL3 may be a prognostic marker and therapeutic target for glioma.
Title: ARL3 is downregulated and acts as a prognostic biomarker in glioma.
Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa.
Title: Dominant ARL3-related retinitis pigmentosa.
Our study uncovers an additional cone rod dystrophy (CRD) gene and assigns the CRD phenotype to a variant of ARL3. The results imply that cargo transportation in photoreceptors as mediated by the ARL3 pathway is essential for cone and rod cell survival and vision in humans.
Title: Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site.RP2 is a positive regulator of cell motility in vitro, recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E.
Title: Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.
ARL3 provides a potential hub in the network of proteins implicated in ciliopathies.
Title: ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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
Joubert syndrome 35 MedGen: C4748442 OMIM: 618161 GeneReviews: Not available	not available
Retinitis pigmentosa 83 MedGen: C4748536 OMIM: 618173 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11266 (e-PCR)
- UniSTS:30277

A002G45 (e-PCR)
- UniSTS:7759

RH41912 (e-PCR)
- UniSTS:13986

SHGC-148709 (e-PCR)
- UniSTS:176571

D10S476E (e-PCR)
- UniSTS:473049

SHGC-12905 (e-PCR)
- UniSTS:5867

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport	IEA Inferred from Electronic Annotation more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within post-Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to ciliary membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in small GTPase-mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
NOT located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in spindle microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 3

Names: ADP ribosylation factor like GTPase 3; ADP-ribosylation factor-like 3; ARF-like 3

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_004311.4 → NP_004302.1 ADP-ribosylation factor-like protein 3

See identical proteins and their annotated locations for NP_004302.1

Status: REVIEWED

Source sequence(s)

AL391121

Consensus CDS

CCDS7538.1

UniProtKB/Swiss-Prot

B2R6C7, P36405, Q53X83, Q5JSM2

Related

ENSP00000260746.4, ENST00000260746.6

Conserved Domains (1) summary

cd04155
Location:3 → 176

Arl3; Arf-like 3 (Arl3) GTPase

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

102673731..102714397 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016260.2 → XP_016871749.1 ADP-ribosylation factor-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2R6C7, P36405, Q53X83, Q5JSM2

Conserved Domains (1) summary

cd04155
Location:3 → 176

Arl3; Arf-like 3 (Arl3) GTPase