This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of ... See more...

Aliases for ART4 Gene

Aliases for ART4 Gene

  • ADP-Ribosyltransferase 4 (Inactive) (Dombrock Blood Group) 2 3 5
  • ARTC4 2 3 4
  • DOK1 2 3 4
  • NAD(+)--Protein-Arginine ADP-Ribosyltransferase 4 2 3
  • ADP-Ribosyltransferase 4 (Dombrock Blood Group) 2 3
  • ADP-Ribosyltransferase C2 And C3 Toxin-Like 4 3 4
  • NAD(P)(+)--Arginine ADP-Ribosyltransferase 4 3 4
  • ADP-Ribosyltransferase 4 (DO Blood Group) 2 3
  • Dombrock Blood Group Carrier Molecule 3 4
  • Ecto-ADP-Ribosyltransferase 4 3 4
  • CD297 2 3
  • DO 3 4
  • Truncated Dombrock Blood Group Protein 3
  • Mono(ADP-Ribosyl)Transferase 4 4
  • Mono-ADP-Ribosyltransferase 4 3
  • ADP-Ribosyltransferase 4 2
  • Dombrock Glycoprotein 3
  • Dombrock Blood Group 2
  • Do Glycoprotein 3
  • CD297 Antigen 4
  • EC 2.4.2.31 4
  • DO/ART4 3
  • ART4 5

External Ids for ART4 Gene

Previous HGNC Symbols for ART4 Gene

  • DO

Previous GeneCards Identifiers for ART4 Gene

  • GC12M014874
  • GC12M014982
  • GC12M014751

Summaries for ART4 Gene

Entrez Gene Summary for ART4 Gene

  • This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ART4 Gene

ART4 (ADP-Ribosyltransferase 4 (Inactive) (Dombrock Blood Group)) is a Protein Coding gene. Diseases associated with ART4 include Blood Group, Dombrock System. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and NAD metabolism. Gene Ontology (GO) annotations related to this gene include NAD(P)+-protein-arginine ADP-ribosyltransferase activity. An important paralog of this gene is ART1.

Gene Wiki entry for ART4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ART4 Gene

Genomics for ART4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ART4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J014840 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 253.6 +1.1 1107 3.6 NCOR1 IKZF1 KLF9 ATF3 NFIC YY1 MXD4 REST KLF11 HOMEZ ENSG00000256339 ART4 lnc-SMCO3-2 lnc-SMCO3-3 ERP27 H2AJ SMCO3 lnc-C12orf60-2 C12orf60
GH12J014845 Enhancer 0.7 ENCODE 250.7 -2.0 -1956 0.2 ZNF654 IKZF1 REST CTCF TRIM22 ZNF217 RAD21 SMC3 YY1 MLLT1 ART4 ENSG00000261324 H4-16 ATF7IP H2AJ HSALNG0089528 lnc-C12orf60-2 MGP C12orf60
GH12J014945 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -111.8 -111788 19.1 BCLAF1 SP1 JUND ZNF592 POLR2A YY1 BCL11A SMAD5 SIN3A TRIM22 ARHGDIB ERP27 MGP PDE6H WBP11 ART4 H2AJ H4-16 SMCO3 C12orf60
GH12J014883 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 -41.4 -41445 3.2 ZNF217 BCL11A MBD2 CTBP1 EBF1 CBFB GATA3 SMARCE1 POLR2A JUND MGP lnc-ERP27-1 ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB H2AJ H4-16
GH12J015001 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12 -158.5 -158475 1.2 BCL6 TAF1 RAD21 EZH2 CTCF LINC01489 ARHGDIB ART4 PDE6H ENSG00000256339 SMCO3 H2AJ H4-16 MGP C12orf60
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ART4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ART4

Top Transcription factor binding sites by QIAGEN in the ART4 gene promoter:
  • C/EBPbeta
  • CUTL1
  • NF-kappaB
  • NF-kappaB1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • SEF-1 (1)

Genomic Locations for ART4 Gene

Latest Assembly
chr12:14,825,569-14,843,526
(GRCh38/hg38)
Size:
17,958 bases
Orientation:
Minus strand

Previous Assembly
chr12:14,978,503-14,996,460
(GRCh37/hg19 by Entrez Gene)
Size:
17,958 bases
Orientation:
Minus strand

chr12:14,978,503-14,996,429
(GRCh37/hg19 by Ensembl)
Size:
17,927 bases
Orientation:
Minus strand

Genomic View for ART4 Gene

Genes around ART4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ART4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ART4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ART4 Gene

Proteins for ART4 Gene

  • Protein details for ART4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93070-NAR4_HUMAN
    Recommended name:
    Ecto-ADP-ribosyltransferase 4
    Protein Accession:
    Q93070
    Secondary Accessions:
    • Q9BZ50
    • Q9BZ51
    • Q9HB06

    Protein attributes for ART4 Gene

    Size:
    314 amino acids
    Molecular mass:
    35878 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ART4 Gene

Post-translational modifications for ART4 Gene

  • Glycosylation at Asn114, Asn178, Asn222, Asn257, and Asn274
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ART4 Gene

No data available for DME Specific Peptides for ART4 Gene

Domains & Families for ART4 Gene

Gene Families for ART4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Enzymes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ART4 Gene

InterPro:
Blocks:
  • NAD:arginine ADP-ribosyltransferase, ART

Suggested Antigen Peptide Sequences for ART4 Gene

GenScript: Design optimal peptide antigens:
  • Dombrock blood group protein (A1Z625_HUMAN)
  • ADP-ribosyltransferase 4 (Dombrock blood group) (C3W8I0_HUMAN)
  • ADP-ribosyltransferase 4 (Dombrock blood group) (C3W8I1_HUMAN)
  • NAD(P)(+)--arginine ADP-ribosyltransferase 4 (NAR4_HUMAN)
  • Dombrock blood group carrier molecule (Q3KZ25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93070

UniProtKB/Swiss-Prot:

NAR4_HUMAN :
  • Belongs to the Arg-specific ADP-ribosyltransferase family.
Family:
  • Belongs to the Arg-specific ADP-ribosyltransferase family.
genes like me logo Genes that share domains with ART4: view

Function for ART4 Gene

Molecular function for ART4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-arginyl-[protein] + NAD(+) = H(+) + N(omega)-(ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide; Xref=Rhea:RHEA:19149, Rhea:RHEA-COMP:10532, Rhea:RHEA-COMP:15087, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:29965, ChEBI:CHEBI:57540, ChEBI:CHEBI:142554; EC=2.4.2.31;.
GENATLAS Biochemistry:
ADP-ribosyltransferase 4,expressed in testis

Enzyme Numbers (IUBMB) for ART4 Gene

Phenotypes From GWAS Catalog for ART4 Gene

Gene Ontology (GO) - Molecular Function for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003950 NAD+ ADP-ribosyltransferase activity IBA 21873635
GO:0003956 NAD(P)+-protein-arginine ADP-ribosyltransferase activity IEA,NAS 9119374
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ART4: view
genes like me logo Genes that share phenotypes with ART4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ART4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ART4 Gene

Localization for ART4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ART4 Gene

Cell membrane. Lipid-anchor, GPI-anchor.

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 ART4 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane NAS 9119374
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with ART4: view

Pathways & Interactions for ART4 Gene

genes like me logo Genes that share pathways with ART4: view

Pathways by source for ART4 Gene

1 GeneGo (Thomson Reuters) pathway for ART4 Gene
  • NAD metabolism

Gene Ontology (GO) - Biological Process for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006471 protein ADP-ribosylation IEA,NAS 9119374
GO:0006525 arginine metabolic process NAS 11001920
GO:0018120 peptidyl-arginine ADP-ribosylation IBA 21873635
genes like me logo Genes that share ontologies with ART4: view

No data available for SIGNOR curated interactions for ART4 Gene

Drugs & Compounds for ART4 Gene

(5) Drugs for ART4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Approved, Investigational Pharma 474,474
NADH Approved Nutra 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0
Arginine Investigational Nutra 564
genes like me logo Genes that share compounds with ART4: view

Transcripts for ART4 Gene

mRNA/cDNA for ART4 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
4 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 ART4

Alternative Splicing Database (ASD) splice patterns (SP) for ART4 Gene

No ASD Table

Relevant External Links for ART4 Gene

GeneLoc Exon Structure for
ART4

Expression for ART4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ART4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ART4 Gene

This gene is overexpressed in Liver (x8.6), Heart - Atrial Appendage (x6.8), Artery - Coronary (x6.0), Artery - Aorta (x5.6), and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for ART4 Gene

This gene is overexpressed in Pancreas (62.8) and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ART4 Gene



Protein tissue co-expression partners for ART4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ART4

SOURCE GeneReport for Unigene cluster for ART4 Gene:

Hs.591158

mRNA Expression by UniProt/SwissProt for ART4 Gene:

Q93070-NAR4_HUMAN
Tissue specificity: Expressed in spleen and T-cells.

Evidence on tissue expression from TISSUES for ART4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ART4: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ART4 Gene

Orthologs for ART4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ART4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ART4 29 30
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ART4 29 30
  • 79.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ART4 29 30
  • 77.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Art4 29
  • 73.9 (n)
Mouse
(Mus musculus)
Mammalia Art4 29 16 30
  • 73.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 32 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 25 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ART4 29 30
  • 58.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 30 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii LOC100537553 29
  • 47.66 (n)
CABZ01019905.1 30
  • 38 (a)
ManyToMany
CABZ01019905.2 30
  • 35 (a)
ManyToMany
CR846080.5 30
  • 35 (a)
ManyToMany
si:ch211-51i16.3 30
  • 33 (a)
ManyToMany
CR846080.3 30
  • 33 (a)
ManyToMany
si:ch211-51i16.1 30
  • 31 (a)
ManyToMany
BX908804.1 30
  • 30 (a)
ManyToMany
art4 30
  • 29 (a)
ManyToMany
si:ch73-379f5.5 30
  • 29 (a)
ManyToMany
CR846080.4 30
  • 28 (a)
ManyToMany
CABZ01064699.1 30
  • 26 (a)
ManyToMany
si:ch211-163m16.7 30
  • 26 (a)
ManyToMany
CABZ01019904.1 30
  • 25 (a)
ManyToMany
Species where no ortholog for ART4 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 ART4 Gene

ENSEMBL:
Gene Tree for ART4 (if available)
TreeFam:
Gene Tree for ART4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ART4: view image
Alliance of Genome Resources:
Additional Orthologs for ART4

Paralogs for ART4 Gene

Paralogs for ART4 Gene

(3) SIMAP similar genes for ART4 Gene using alignment to 5 proteins:

  • NAR4_HUMAN
  • A1Z625_HUMAN
  • C3W8I0_HUMAN
  • C3W8I1_HUMAN
  • H7C2G2_HUMAN
genes like me logo Genes that share paralogs with ART4: view

Variants for ART4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ART4 Gene

NAR4_HUMAN-Q93070
DO is responsible for the Dombrock blood group system [MIM:616060]. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ART4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11276 Affects: Blood group, Dombrock system 14,840,505(-) C/Tp.Asn265Asp
NM_021071.4(ART4):c.793G>A (p.Asp265Asn)
MISSENSE
rs56340844 Affects: Blood group, Dombrock system 14,840,856(-) G/A
NM_021071.4(ART4):c.442C>T (p.Gln148Ter)
NONSENSE
rs587777831 Affects: Blood group, Dombrock system 14,841,155(-) T/C
NM_021071.4(ART4):c.145-2A>G
SPLICE_ACCEPTOR
rs587777832 Affects: Blood group, Dombrock system 14,840,947(-) GGTAGTCAT/G
NM_021071.4(ART4):c.343_350del (p.Met115fs)
FRAMESHIFT
rs587777833 Affects: Blood group, Dombrock system 14,842,968(-) A/G
NM_021071.4(ART4):c.144+2T>C
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ART4 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 ART4 Gene

Variant ID Type Subtype PubMed ID
esv3302544 CNV tandem duplication 20981092
esv3437825 CNV duplication 20981092

Variation tolerance for ART4 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.68; 82.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ART4 Gene

Human Gene Mutation Database (HGMD)
ART4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ART4
Leiden Open Variation Database (LOVD)
ART4

SNP Genotyping and Copy Number Assays for research

Disorders for ART4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ART4 Gene - From: OMI and GCD

Disorder Aliases PubMed IDs
blood group, dombrock system
  • do
- elite association - COSMIC cancer census association via MalaCards
Search ART4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ART4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ART4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ART4 Gene

Publications for ART4 Gene

  1. Two novel human members of an emerging mammalian gene family related to mono-ADP-ribosylating bacterial toxins. (PMID: 9119374) Koch-Nolte F … Thiele HG (Genomics 1997) 2 3 4
  2. Introduction of a real-time-based blood-group genotyping approach. (PMID: 18510579) Polin H … Gabriel C (Vox sanguinis 2008) 3 40
  3. Analysis of the 3' UTR of the ART3 and ART4 gene by 3' inverse RACE-PCR. (PMID: 16040347) Friedrich M … Hauschildt S (DNA sequence : the journal of DNA sequencing and mapping 2005) 3 22
  4. Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements. (PMID: 16140404) Grahnert A … Hauschildt S (Biochimica et biophysica acta 2005) 3 22
  5. 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

Products for ART4 Gene

Sources for ART4 Gene