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    ARL4D ADP ribosylation factor like GTPase 4D [ Homo sapiens (human) ]

    Gene ID: 379, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ARL4Dprovided by HGNC
    Official Full Name
    ADP ribosylation factor like GTPase 4Dprovided by HGNC
    Primary source
    HGNC:HGNC:656
    See related
    Ensembl:ENSG00000175906 MIM:600732; AllianceGenome:HGNC:656
    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
    ARF4L
    Summary
    ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. [provided by RefSeq, Jul 2021]
    Expression
    Broad expression in thyroid (RPKM 16.5), esophagus (RPKM 15.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43398993..43401137)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44248757..44250901)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41476361..41478505)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 910 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41464317-41464832 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41464833-41465348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41465639-41466392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41466393-41467146 Neighboring gene RNA, U2 small nuclear 4, pseudogene Neighboring gene RNA, U6 small nuclear 1137, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41476485-41476988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41483740-41484240 Neighboring gene RNA, U6 small nuclear 470, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41495953-41496764 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41516034-41516798 Neighboring gene MIR2117 host gene Neighboring gene microRNA 2117

    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. GTP-binding-defective ARL4D alters mitochondrial morphology and membrane potential. Li CC, et al. PLoS One, 2012. PMID 22927989, Free PMC Article
    2. Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21. Smith SA, et al. Genomics, 1995 Jul 1. PMID 7590735
    3. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Chiang AP, et al. Am J Hum Genet, 2004 Sep. PMID 15258860, Free PMC Article
    4. Recognition of ADP-ribosylation factor 4-like by HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes from patients with brain tumors. Nonaka Y, et al. Tissue Antigens, 2002 Oct. PMID 12472661
    5. Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane. Lin MC, et al. Proc Natl Acad Sci U S A, 2022 Jul 26. PMID 35857868, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane.
      Title: Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane.
    2. a portion of endogenous ARL4D and the GTP-binding-defective ARL4D mutant ARL4D(T35N) reside in the mitochondria
      Title: GTP-binding-defective ARL4D alters mitochondrial morphology and membrane potential.
    3. Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form.
      Title: The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane.
    4. ARF4L 15-24 and ARF4L 69-77, possessed the ability to induce HLA-A2-restricted and tumor-reactive CTLs from peripheral blood mononuclear cells of patients with brain tumors
      Title: Recognition of ADP-ribosylation factor 4-like by HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes from patients with brain tumors.
    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

    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 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 protein secretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 4D
    Names
    ADP-ribosylation factor-like 4D
    ADP-ribosylation factor-like protein 4L

    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_001661.4 → NP_001652.2  ADP-ribosylation factor-like protein 4D

      See identical proteins and their annotated locations for NP_001652.2

      Status: REVIEWED

      Source sequence(s)
      AC087650, BC000043, BI547763, BM682844
      Consensus CDS
      CCDS11463.1
      UniProtKB/Swiss-Prot
      B2RC59, D3DX43, P49703
      Related
      ENSP00000322628.2, ENST00000320033.5
      Conserved Domains (1) summary
      cl38936
      Location:19 → 201
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      43398993..43401137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524782.3 → XP_011523084.1  ADP-ribosylation factor-like protein 4D isoform X1

      See identical proteins and their annotated locations for XP_011523084.1

      UniProtKB/Swiss-Prot
      B2RC59, D3DX43, P49703
      Conserved Domains (1) summary
      cl38936
      Location:19 → 201
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44248757..44250901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316021.1 → XP_054171996.1  ADP-ribosylation factor-like protein 4D isoform X1

      UniProtKB/Swiss-Prot
      B2RC59, D3DX43, P49703
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49703.2 GenPept UniProtKB/Swiss-Prot:P49703

    Gene LinkOut

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