ART4

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).

ART4
Identifiers
AliasesART4, ARTC4, CD297, DO, DOK1, ADP-ribosyltransferase 4 (Dombrock blood group), DO/ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
External IDsOMIM: 110600 MGI: 1202710 HomoloGene: 10883 GeneCards: ART4
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: 136.83 – 136.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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
Molecular structure of Art4 region with inserted mutation sequence
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. 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. 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. S2CID 85911512.
  8. "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. S2CID 18872015.
  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. "Infection and Immunity Immunophenotyping (3i) Consortium".
  14. "OBCD Consortium".

Further reading

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


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