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ARL4D ARF like GTPase 4D [ Homo sapiens (human) ]

Gene ID: 379, updated on 2-Nov-2024

Summary

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Official Symbol
ARL4Dprovided by HGNC
Official Full Name
ARF 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
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Genomic context

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See ARL4D in Genome Data Viewer
Location:
17q21.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43398993..43401137)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44248757..44250901)
RS_2024_09 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 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. 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
  2. GTP-binding-defective ARL4D alters mitochondrial morphology and membrane potential. Li CC, et al. PLoS One, 2012. PMID 22927989, Free PMC Article
  3. 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
  4. 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
  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 GTPase 4D
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_2024_08

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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