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ARL13A ADP ribosylation factor like GTPase 13A [ Homo sapiens (human) ]

Gene ID: 392509, updated on 3-Apr-2024

Summary

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Official Symbol
ARL13Aprovided by HGNC
Official Full Name
ADP ribosylation factor like GTPase 13Aprovided by HGNC
Primary source
HGNC:HGNC:31709
See related
Ensembl:ENSG00000174225 AllianceGenome:HGNC:31709
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARL13; dJ341D10.2
Summary
Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in non-motile cilium assembly and receptor localization to non-motile cilium. Predicted to be active in ciliary membrane; motile cilium; and non-motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 2.4), skin (RPKM 0.2) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See ARL13A in Genome Data Viewer
Location:
Xq22.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (100969708..100990831)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99412390..99434268)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100224697..100245820)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene XK related X-linked Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:100182110-100183309 Neighboring gene NSA2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29806 Neighboring gene CSGALNACT2 pseudogene 1 Neighboring gene tRNA methyltransferase 2 homolog B Neighboring gene ReSE screen-validated silencer GRCh37_chrX:100246331-100246526 Neighboring gene uncharacterized LOC124905285 Neighboring gene transmembrane protein 35A

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. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  2. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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

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

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 IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor localization to non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in ciliary membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ADP-ribosylation factor-like protein 13A
Names
ADP-ribosylation factor-like 13
ADP-ribosylation factor-like 13A

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_001162491.2 → NP_001155963.1  ADP-ribosylation factor-like protein 13A

    See identical proteins and their annotated locations for NP_001155963.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the functional protein.
    Source sequence(s)
    AK301813, AW118931, BC140808
    Consensus CDS
    CCDS55463.1
    UniProtKB/Swiss-Prot
    B2RTT6, B4DX50, Q5H913
    Related
    ENSP00000398637.2, ENST00000450049.7
    Conserved Domains (1) summary
    cd04161
    Location:23 → 189
    Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13

RNA

  1. NR_103708.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 3. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK301813, AW118931

  2. NR_103709.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs at the 3' end compared to variant 3. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK301813, AW118931, DC426731
    Related
    ENST00000450457.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    100969708..100990831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530951.3 → XP_011529253.1  ADP-ribosylation factor-like protein 13A isoform X1

    Conserved Domains (1) summary
    cl21455
    Location:23 → 126
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    99412390..99434268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327048.1 → XP_054183023.1  ADP-ribosylation factor-like protein 13A isoform X2

  2. XM_054327049.1 → XP_054183024.1  ADP-ribosylation factor-like protein 13A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5H913.2 GenPept UniProtKB/Swiss-Prot:Q5H913

Gene LinkOut

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