Protein-coding gene in humans
| ART4 |
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| Identifiers |
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| Aliases | ART4, ARTC4, CD297, DO, DOK1, ADP-ribosyltransferase 4 (Dombrock blood group), DO/ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) |
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| External IDs | OMIM: 110600; MGI: 1202710; HomoloGene: 10883; GeneCards: ART4; OMA:ART4 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 12 (human)[1] |
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| | Band | 12p12.3 | Start | 14,825,569 bp[1] |
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| End | 14,843,526 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 6 (mouse)[2] |
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| | Band | 6 G1|6 66.72 cM | Start | 136,825,449 bp[2] |
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| End | 136,834,731 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - liver
- right lobe of liver
- right coronary artery
- thoracic aorta
- ascending aorta
- gallbladder
- left coronary artery
- trabecular bone
- spleen
- lymph node
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| | Top expressed in | - interventricular septum
- lacrimal gland
- right lobe of liver
- myocardium of ventricle
- thymus
- lip
- semi-lunar valve
- yolk sac
- atrium
- endocardial cushion
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 12: 14.83 – 14.84 Mb | Chr 6: 136.83 – 136.83 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000111339 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030217 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ a b "Entrez Gene: ART4 ADP-ribosyltransferase 4 (Dombrock blood group)".
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.
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