ART4
ART4 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 12: 14.83 – 14.84 Mb | Chr 6: 136.83 – 136.83 Mb | |||||||
PubMed search | [3] | [4] |
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.
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.
- 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. S2CID 9672302.
- Tippett P (Mar 1967). "Genetics of the Dombrock blood group system". Journal of Medical Genetics. 4 (1): 7–11. PMID 6034522.
- Eiberg H, Mohr J (Nov 1996). "Dombrock blood group (DO): assignment to chromosome 12p". Human Genetics. 98 (5): 518–21. 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. 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. 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. 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. 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. 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. 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. 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.