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    ARL14 ARF like GTPase 14 [ Homo sapiens (human) ]

    Gene ID: 80117, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARL14provided by HGNC
    Official Full Name
    ARF like GTPase 14provided by HGNC
    Primary source
    HGNC:HGNC:22974
    See related
    Ensembl:ENSG00000179674 MIM:614439; AllianceGenome:HGNC:22974
    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
    ARF7
    Summary
    Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See ARL14 in Genome Data Viewer
    Location:
    3q25.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (160677160..160678448)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163451739..163453027)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160394948..160396236)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 12 Neighboring gene ribosomal protein L6 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20761 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:160394435-160395634 Neighboring gene small nucleolar RNA SNORA72 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14858 Neighboring gene PPM1L divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations. Yang F, et al. J Biol Chem, 2020 Dec 4. PMID 32972971, Free PMC Article
    2. A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation. Paul P, et al. Cell, 2011 Apr 15. PMID 21458045
    3. Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation. Senapati S, et al. Pharmacogenet Genomics, 2014 Apr. PMID 24583629
    4. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. Hirschfield GM, et al. N Engl J Med, 2009 Jun 11. PMID 19458352, Free PMC Article
    5. Human RAS superfamily proteins and related GTPases. Colicelli J. Sci STKE, 2004 Sep 7. PMID 15367757, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.
      Title: The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.
    EBI GWAS Catalog
    Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ22595

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 14
    Names
    ADP ribosylation factor like GTPase 14
    ADP-ribosylation factor 7
    ADP-ribosylation factor-like 14

    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_025047.3 → NP_079323.1  ADP-ribosylation factor-like protein 14

      See identical proteins and their annotated locations for NP_079323.1

      Status: VALIDATED

      Source sequence(s)
      BC034354, BM760777
      Consensus CDS
      CCDS3192.1
      UniProtKB/Swiss-Prot
      Q8N4G2, Q9H655
      Related
      ENSP00000323847.2, ENST00000320767.4
      Conserved Domains (2) summary
      cd04156
      Location:15 → 174
      ARLTS1; Arf-like tumor suppressor gene 1 (ARLTS1 or Arl11)
      smart00178
      Location:1 → 175
      SAR; Sar1p-like members of the Ras-family of small GTPases

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      160677160..160678448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      163451739..163453027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4G2.2 GenPept UniProtKB/Swiss-Prot:Q8N4G2

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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