ART4

ART4
Identifiers
Aliases	ART4 , ARTC4, CD297, DO, DOK1, ADP-ribosyltransferase 4 (Dombrock blood group), DO/ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
External IDs	OMIM: 110600; MGI: 1202710; HomoloGene: 10883; GeneCards: ART4; OMA:ART4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12p12.3 Start 14,825,569 bp [1] End 14,843,526 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 G1|6 66.72 cM Start 136,825,449 bp [2] End 136,834,731 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in liver right lobe of liver right coronary artery right auricle of heart thoracic aorta ascending aorta gallbladder Descending thoracic aorta left coronary artery trabecular bone Top expressed in fetal liver hematopoietic progenitor cell interventricular septum lacrimal gland lumbar spinal ganglion right lobe of liver embryo myocardium of ventricle thymus blastocyst lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity NAD+-protein-arginine ADP-ribosyltransferase activity glycosyltransferase activity NAD+ ADP-ribosyltransferase activity Cellular component anchored component of membrane membrane extracellular region plasma membrane Biological process protein ADP-ribosylation arginine metabolic process peptidyl-arginine ADP-ribosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 420 109978 Ensembl ENSG00000111339 ENSMUSG00000030217 UniProt Q93070 Q9CRA0 RefSeq (mRNA) NM_021071 NM_001354646 NM_026639 RefSeq (protein) NP_066549 NP_001341575 NP_080915 Location (UCSC) Chr 12: 14.83 – 14.84 Mb Chr 6: 136.83 – 136.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ecto-ADP-ribosyltransferase 4 is an enzyme that in humans is encoded by the ART4 gene. ^{[5] [6]} ART4 has also been designated as CD297 (cluster of differentiation 297).

Function

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 glycosylphosphatidylinositol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. ^[6]

Blood group antigens

Several antigens have been recognised in this family. These are DO*A, DO*JO1, DO*A-WL, DO*DOYA, DO*B, DO*B-WL, DO*B-SH-Q149K, DO*B-(WL)-I175N, DO*HY1, DO*HY2 and DO*DOMR.

Clinical diagnostic

Clinical testing in patient care for Dombrock antigens follows published minimum quality and operational requirements, ^[7] similar to red cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect Dombrock antigens expression on the red cell membrane.

References

1. GRCh38: Ensembl release 89: ENSG00000111339 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030217 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Koch-Nolte F, Haag F, Braren R, Kühl M, Hoovers J, Balasubramanian S, Bazan F, Thiele HG (Feb 1997). "Two novel human members of an emerging mammalian gene family related to mono-ADP-ribosylating bacterial toxins". Genomics. 39 (3): 370–6. doi:10.1006/geno.1996.4520. PMID   9119374.
6. "Entrez Gene: ART4 ADP-ribosyltransferase 4 (Dombrock blood group)".
7. "Association for the Advancement of Blood & Biotherapies (AABB). (2025). Standards for molecular testing for red cell, platelet, and neutrophil antigens, 7th ed. (ISBN: 978-1-56395-516-7)".

Further reading

• Reid ME (Jan 2003). "The Dombrock blood group system: a review". Transfusion. 43 (1): 107–14. doi:10.1046/j.1537-2995.2003.00283.x. PMID   12519438. S2CID   9672302.
• Tippett P (Mar 1967). "Genetics of the Dombrock blood group system". Journal of Medical Genetics. 4 (1): 7–11. doi:10.1136/jmg.4.1.7. PMC   1468500 . PMID   6034522.
• Eiberg H, Mohr J (Nov 1996). "Dombrock blood group (DO): assignment to chromosome 12p". Human Genetics. 98 (5): 518–21. doi: 10.1007/s004390050251 . PMID   8882867. S2CID   2493868.
• Mauthe J, Coghlan G, Zelinski T (2000). "Confirmation of the assignment of the Dombrock blood group locus (DO) to chromosome 12p: narrowing the boundaries to 12p12.3-p13.2". Vox Sanguinis. 79 (1): 53–6. doi:10.1046/j.1423-0410.2000.7910053.x. PMID   10971215. S2CID   46880136.
• Gubin AN, Njoroge JM, Wojda U, Pack SD, Rios M, Reid ME, Miller JL (Oct 2000). "Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family". Blood. 96 (7): 2621–7. doi:10.1182/blood.V96.7.2621. PMID   11001920.
• Wu GG, Jin SZ, Deng ZH, Zhao TM (Jul 2001). "Polymerase chain reaction with sequence-specific primers-based genotyping of the human Dombrock blood group DO1 and DO2 alleles and the DO gene frequencies in Chinese blood donors". Vox Sanguinis. 81 (1): 49–51. doi:10.1046/j.1423-0410.2001.00052.x. PMID   11520417. S2CID   11677325.
• Rios M, Hue-Roye K, Øyen R, Miller J, Reid ME (Jan 2002). "Insights into the Holley- and Joseph- phenotypes". Transfusion. 42 (1): 52–8. doi:10.1046/j.1537-2995.2002.00004.x. PMID   11896313. S2CID   40090553.
• Rios M, Storry JR, Hue-Roye K, Chung A, Reid ME (Jun 2002). "Two new molecular bases for the Dombrock null phenotype". British Journal of Haematology. 117 (3): 765–7. doi: 10.1046/j.1365-2141.2002.03524.x . PMID   12028057. S2CID   29259695.
• Glowacki G, Braren R, Firner K, Nissen M, Kühl M, Reche P, Bazan F, Cetkovic-Cvrlje M, Leiter E, Haag F, Koch-Nolte F (Jul 2002). "The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse". Protein Science. 11 (7): 1657–70. doi:10.1110/ps.0200602. PMC   2373659 . PMID   12070318.
• Grahnert A, Friedrich M, Engeland K, Hauschildt S (Sep 2005). "Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1730 (3): 173–86. doi:10.1016/j.bbaexp.2005.08.001. PMID   16140404.

External links

• ART4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ART4 genome location and ART4 gene details page in the UCSC Genome Browser .
• Human DOK1 genome location and DOK1 gene details page in the UCSC Genome Browser .
• Dombrock blood group antigen NCBI Blood Group Antigen Gene Mutation Database

This article incorporates text from the United States National Library of Medicine, which is in the public domain.