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. Mutations in this gene have been associated with Bardet-... See more...

Aliases for ARL4D Gene

Aliases for ARL4D Gene

  • ADP Ribosylation Factor Like GTPase 4D 2 3 5
  • ADP-Ribosylation Factor-Like Protein 4D 3 4
  • ADP-Ribosylation Factor-Like Protein 4L 3 4
  • ADP-Ribosylation Factor-Like 4D 2 3
  • ARF4L 3 4
  • ADP-Ribosylation Factor 4-Like 2
  • ADP-Ribosylation Factor-Like 6 3
  • ARL4D 5
  • ARL6 3

External Ids for ARL4D Gene

Previous HGNC Symbols for ARL4D Gene

  • ARF4L

Previous GeneCards Identifiers for ARL4D Gene

  • GC17P038832
  • GC17P041476
  • GC17P037238

Summaries for ARL4D Gene

Entrez Gene Summary for ARL4D Gene

  • 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. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]

GeneCards Summary for ARL4D Gene

ARL4D (ADP Ribosylation Factor Like GTPase 4D) is a Protein Coding gene. Diseases associated with ARL4D include Bardet-Biedl Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ARL4A.

UniProtKB/Swiss-Prot Summary for ARL4D Gene

  • Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.

Gene Wiki entry for ARL4D Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARL4D Gene

Genomics for ARL4D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARL4D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARL4D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARL4D

Top Transcription factor binding sites by QIAGEN in the ARL4D gene promoter:
  • AML1a
  • ATF-2
  • c-Jun
  • FOXJ2 (long isoform)
  • NF-kappaB
  • NF-kappaB1
  • Nkx5-1
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for ARL4D Gene

Latest Assembly
chr17:43,398,993-43,401,137
(GRCh38/hg38)
Size:
2,145 bases
Orientation:
Plus strand

Previous Assembly
chr17:41,476,361-41,478,505
(GRCh37/hg19 by Entrez Gene)
Size:
2,145 bases
Orientation:
Plus strand

chr17:41,476,327-41,478,505
(GRCh37/hg19 by Ensembl)
Size:
2,179 bases
Orientation:
Plus strand

Genomic View for ARL4D Gene

Genes around ARL4D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL4D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL4D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL4D Gene

Proteins for ARL4D Gene

  • Protein details for ARL4D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49703-ARL4D_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 4D
    Protein Accession:
    P49703
    Secondary Accessions:
    • B2RC59
    • D3DX43

    Protein attributes for ARL4D Gene

    Size:
    201 amino acids
    Molecular mass:
    22156 Da
    Quaternary structure:
    • Interacts with CYTH2; the interaction is direct and ARL4D GTP-dependent. Does not interact with ARL4D.

neXtProt entry for ARL4D Gene

Post-translational modifications for ARL4D Gene

  • Ubiquitination at Lys44
  • Modification sites at PhosphoSitePlus

Other Protein References for ARL4D Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ARL4D

No data available for DME Specific Peptides for ARL4D Gene

Domains & Families for ARL4D Gene

Gene Families for ARL4D Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARL4D Gene

InterPro:
Blocks:
  • ADP-ribosylation factor
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for ARL4D Gene

GenScript: Design optimal peptide antigens:
  • ADP-ribosylation factor-like protein 4L (ARL4D_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49703

UniProtKB/Swiss-Prot:

ARL4D_HUMAN :
  • Belongs to the small GTPase superfamily. Arf family.
Family:
  • Belongs to the small GTPase superfamily. Arf family.
genes like me logo Genes that share domains with ARL4D: view

Function for ARL4D Gene

Molecular function for ARL4D Gene

UniProtKB/Swiss-Prot Function:
Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.

Phenotypes From GWAS Catalog for ARL4D Gene

Gene Ontology (GO) - Molecular Function for ARL4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS 7590735
GO:0005515 protein binding IPI 17398095
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with ARL4D: view
genes like me logo Genes that share phenotypes with ARL4D: view

Animal Models for ARL4D Gene

MGI Knock Outs for ARL4D:
  • Arl4d Arl4d<tm1a(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for ARL4D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL4D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARL4D Gene

Localization for ARL4D Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL4D Gene

Nucleus, nucleolus. Cell membrane. Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARL4D gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARL4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA,IDA 17398095
GO:0005886 plasma membrane IBA,IDA 17398095
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARL4D: view

Pathways & Interactions for ARL4D Gene

PathCards logo

SuperPathways for ARL4D Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARL4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0009306 protein secretion TAS 7590735
GO:0016192 vesicle-mediated transport IBA 21873635
genes like me logo Genes that share ontologies with ARL4D: view

No data available for Pathways by source and SIGNOR curated interactions for ARL4D Gene

Drugs & Compounds for ARL4D Gene

No Compound Related Data Available

Transcripts for ARL4D Gene

mRNA/cDNA for ARL4D Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL4D

Alternative Splicing Database (ASD) splice patterns (SP) for ARL4D Gene

No ASD Table

Relevant External Links for ARL4D Gene

GeneLoc Exon Structure for
ARL4D

Expression for ARL4D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARL4D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARL4D Gene

This gene is overexpressed in Esophagus - Mucosa (x4.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARL4D

SOURCE GeneReport for Unigene cluster for ARL4D Gene:

Hs.183153

Evidence on tissue expression from TISSUES for ARL4D Gene

  • Nervous system(4.7)
  • Eye(4.7)
genes like me logo Genes that share expression patterns with ARL4D: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL4D Gene

Orthologs for ARL4D Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARL4D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARL4D 29 30
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARL4D 29 30
  • 91.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARL4D 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ARL4D 29 30
  • 89.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arl4d 29
  • 86.24 (n)
Mouse
(Mus musculus)
Mammalia Arl4d 29 16 30
  • 86.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARL4D 30
  • 77 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii arl4d 29 30
  • 69.33 (n)
OneToOne
wufc03d05 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1686 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG2219 30
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARF3 30
  • 38 (a)
OneToMany
Species where no ortholog for ARL4D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARL4D Gene

ENSEMBL:
Gene Tree for ARL4D (if available)
TreeFam:
Gene Tree for ARL4D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARL4D: view image
Alliance of Genome Resources:
Additional Orthologs for ARL4D

Paralogs for ARL4D Gene

(28) SIMAP similar genes for ARL4D Gene using alignment to 1 proteins:

  • ARL4D_HUMAN
genes like me logo Genes that share paralogs with ARL4D: view

Variants for ARL4D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARL4D Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1059968 -- p.Thr91Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARL4D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARL4D Gene

Variant ID Type Subtype PubMed ID
esv2761959 CNV gain 21179565
esv3640625 CNV gain 21293372
nsv1060861 CNV gain 25217958
nsv1065802 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv470588 CNV gain 18288195
nsv833451 CNV loss 17160897
nsv833452 CNV loss 17160897

Variation tolerance for ARL4D Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARL4D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL4D
Leiden Open Variation Database (LOVD)
ARL4D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL4D Gene

Disorders for ARL4D Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARL4D Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bardet-biedl syndrome
  • bbs
- elite association - COSMIC cancer census association via MalaCards
Search ARL4D in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARL4D

genes like me logo Genes that share disorders with ARL4D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARL4D Gene

Publications for ARL4D Gene

  1. Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21. (PMID: 7590735) Smith SA … Albertsen H (Genomics 1995) 2 3 4
  2. GTP-binding-defective ARL4D alters mitochondrial morphology and membrane potential. (PMID: 22927989) Li CC … Lee FJ (PloS one 2012) 2 3
  3. The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane. (PMID: 17398095) Hofmann I … Munro S (Current biology : CB 2007) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Recognition of ADP-ribosylation factor 4-like by HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes from patients with brain tumors. (PMID: 12472661) Nonaka Y … Itoh K (Tissue antigens 2002) 3 22

Products for ARL4D Gene

Sources for ARL4D Gene