ART4

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ADP-ribosyltransferase 4 (Dombrock blood group)
Identifiers
Symbols ART4 ; ARTC4; CD297; DO; DOK1
External IDs OMIM110600 MGI1202710 HomoloGene10883 GeneCards: ART4 Gene
EC number 2.4.2.31
RNA expression pattern
PBB GE ART4 207220 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 420 109978
Ensembl ENSG00000111339 ENSMUSG00000030217
UniProt Q93070 Q9CRA0
RefSeq (mRNA) NM_021071 NM_026639
RefSeq (protein) NP_066549 NP_080915
Location (UCSC) Chr 12:
14.98 – 15 Mb
Chr 6:
136.85 – 136.86 Mb
PubMed search [1] [2]

Ecto-ADP-ribosyltransferase 4 is an enzyme that in humans is encoded by the ART4 gene.[1][2] ART4 has also been designated as CD297 (cluster of differentiation 297).

Function[edit]

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.[2]

Blood group antigens[edit]

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 MGI Art4
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[edit]

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.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9] - in-depth bone and cartilage phenotyping[10]



References[edit]

  1. ^ Koch-Nolte F, Haag F, Braren R, Kühl M, Hoovers J, Balasubramanian S et al. (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. 
  2. ^ a b "Entrez Gene: ART4 ADP-ribosyltransferase 4 (Dombrock blood group)". 
  3. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. 
  4. ^ a b "International Mouse Phenotyping Consortium". 
  5. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V et al. (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. 
  6. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  7. ^ 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. 
  8. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN et al. (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. PMID 23870131. 
  9. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 
  10. ^ a b "OBCD Consortium". 

Further reading[edit]

External links[edit]

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