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

Gene ID: 403, updated on 27-Nov-2024

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
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Genomic context

See ARL3 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2765 Neighboring gene hESC enhancers GRCh37_chr10:104402874-104403628 and GRCh37_chr10:104403629-104404384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3942 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104405671-104405887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104408319-104409286 Neighboring gene uncharacterized LOC105378460 Neighboring gene TRIM8 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2769 Neighboring gene tripartite motif containing 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104428852-104429454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104429455-104430056 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:104430057-104430658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104433562-104434111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474219-104474795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474796-104475371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104488530-104489304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104489305-104490077 Neighboring gene sideroflexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3949 Neighboring gene WW domain binding protein 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104534833-104535364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104535897-104536428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104536429-104536960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104540708-104541208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104541209-104541709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3950 Neighboring gene RNA, U6 small nuclear 1231, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Joubert syndrome 35
MedGen: C4748442 OMIM: 618161 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 83
MedGen: C4748536 OMIM: 618173 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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)

  1. NM_004311.4NP_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:3176
    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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102673731..102714397 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    B2R6C7, P36405, Q53X83, Q5JSM2
    Conserved Domains (1) summary
    cd04155
    Location:3176
    Arl3; Arf-like 3 (Arl3) GTPase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103559565..103600213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365942.1XP_054221917.1  ADP-ribosylation factor-like protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B2R6C7, P36405, Q53X83, Q5JSM2