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    ARL13A ARF like GTPase 13A [ Homo sapiens (human) ]

    Gene ID: 392509, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARL13Aprovided by HGNC
    Official Full Name
    ARF 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 and non-motile cilium. [provided by Alliance of Genome Resources, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (100969708..100990831)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99412390..99434268)
    RS_2024_09 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 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 GTPase 13A
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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