ART4

ART4
Identifiers
AliasesART4, ARTC4, CD297, DO, DOK1, ADP-ribosyltransferase 4 (Dombrock blood group)
External IDsMGI: 1202710 HomoloGene: 10883 GeneCards: ART4
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p12.3Start14,825,569 bp[1]
End14,843,533 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 6: 136.85 – 136.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.

Mouse Mutant Alleles for Art4
Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the MGIArt4
Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse.Art4tm1aWTSI(KOMP)
Example structure of targeted conditional mutant allele for this gene
These Mutant ES Cells can be studied directly or used to generate mice with this gene knocked out. Study of these mice can shed light on the function of Art4:

see Knockout mouse

Model organisms

Model organisms have been used in the study of ART4 function. A conditional knockout mouse line called Art4tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13] - in-depth bone and cartilage phenotyping[14]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111339 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030217 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "Entrez Gene: ART4 ADP-ribosyltransferase 4 (Dombrock blood group)".
  7. ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  8. 1 2 "International Mouse Phenotyping Consortium".
  9. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  10. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  12. ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  13. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".
  14. 1 2 "OBCD Consortium".

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.
  • 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.
  • 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.
  • 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. doi:10.1046/j.1423-0410.2001.00052.x. PMID 11520417.
  • 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.
  • 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.
  • 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. 1730 (3): 173–86. doi:10.1016/j.bbaexp.2005.08.001. PMID 16140404.

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


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