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ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) [ Homo sapiens (human) ]

Gene ID: 420, updated on 5-Mar-2024

Summary

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Official Symbol
ART4provided by HGNC
Official Full Name
ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)provided by HGNC
Primary source
HGNC:HGNC:726
See related
Ensembl:ENSG00000111339 MIM:110600; AllianceGenome:HGNC:726
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
DO; DOK1; ARTC4; CD297; DO/ART4
Summary
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]
Expression
Biased expression in liver (RPKM 8.6), spleen (RPKM 7.9) and 11 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12p12.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14825569..14843526, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14702932..14720873, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14978503..14996460, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene WW domain binding protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6057 Neighboring gene chromosome 12 open reading frame 60 Neighboring gene single-pass membrane protein with coiled-coil domains 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene matrix Gla protein Neighboring gene uncharacterized LOC124902885

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. Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations. Wangmo T, et al. Clin Lab, 2021 Oct 1. PMID 34655192
  2. A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family. Morin PA, et al. Transfusion, 2021 Feb. PMID 33206405
  3. Sequencing of the ART4 gene in sub-Saharan cohorts reveals ethnic differences and two new DO alleles: DO*B-Ile5Thr and DO*B-Trp266Arg. Durousseau de Coulgeans C, et al. Transfusion, 2015 Oct. PMID 25988428
  4. A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese. Onodera T, et al. Vox Sang, 2015 Aug. PMID 25865759
  5. The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies. Grodecka M, et al. Immunohematology, 2012. PMID 23421541

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.
    Title: Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.
  2. A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.
    Title: A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.
  3. Characterization of two novel DO*B alleles highlights the value of testing selected ethnic groups in understanding DO allele diversity.
    Title: Sequencing of the ART4 gene in sub-Saharan cohorts reveals ethnic differences and two new DO alleles: DO*B-Ile5Thr and DO*B-Trp266Arg.
  4. The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.
    Title: The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.
  5. Dombrock genotyping in a native Congolese cohort reveals two novel alleles.
    Title: Dombrock genotyping in a native Congolese cohort reveals two novel alleles.
  6. The Dombrock blood group system
    Title: The Dombrock blood group system: a review.
  7. Observational study of genetic testing. (HuGE Navigator)
    Title: Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
  8. Expression of ART4 was analyzed in mononuclear leukocytes.
    Title: Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements.
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

Associated conditions

Description Tests
Blood group, Dombrock system
MedGen: C1292294 OMIM: 616060 GeneReviews: Not available
not available

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 NAD+ ADP-ribosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NAD+-protein-arginine ADP-ribosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in arginine metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ecto-ADP-ribosyltransferase 4
Names
ADP-ribosyltransferase 4 (DO blood group)
ADP-ribosyltransferase 4 (Dombrock blood group)
ADP-ribosyltransferase C2 and C3 toxin-like 4
Do glycoprotein
Dombrock blood group carrier molecule
Dombrock glycoprotein
NAD(+)--protein-arginine ADP-ribosyltransferase 4
NAD(P)(+)--arginine ADP-ribosyltransferase 4
mono-ADP-ribosyltransferase 4
NP_001341575.1
NP_066549.2

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.

Genomic

  1. NG_007477.2 RefSeqGene

    Range
    4954..22911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_807

mRNA and Protein(s)

  1. NM_001354646.2 → NP_001341575.1  ecto-ADP-ribosyltransferase 4 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007655, AI149009, AY829437
    UniProtKB/TrEMBL
    H7C2G2
    Related
    ENSP00000405689.1, ENST00000420600.1
    Conserved Domains (1) summary
    cl00173
    Location:56 → 277
    VIP2; A family of actin-ADP-ribosylating toxin. A member of the Bacillus-prodiced vegetative insecticidal proteins (VIPs) possesses high specificity against the major insect pest, corn rootworms, and belongs to a classs of binary toxins and regulators of ...

  2. NM_021071.4 → NP_066549.2  ecto-ADP-ribosyltransferase 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_066549.2

    Status: REVIEWED

    Source sequence(s)
    AC007655, AF290204, BX096478, CR746266
    Consensus CDS
    CCDS8668.1
    UniProtKB/Swiss-Prot
    Q93070, Q9BZ50, Q9BZ51, Q9HB06
    UniProtKB/TrEMBL
    A8K6J7
    Related
    ENSP00000228936.4, ENST00000228936.6
    Conserved Domains (1) summary
    cl00173
    Location:56 → 277
    VIP2; VIP2; A family of actin-ADP-ribosylating toxin. A member of the Bacillus-prodiced vegetative insecticidal proteins (VIPs) possesses high specificity against the major insect pest, corn rootworms, and belongs to a classs of binary toxins and regulators of ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    14825569..14843526 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    14702932..14720873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q93070.3 GenPept UniProtKB/Swiss-Prot:Q93070

Gene LinkOut

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