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ART4: Difference between revisions

Revision as of 02:35, 27 October 2017

ART4
Identifiers
Aliases	ART4, ARTC4, CD297, DO, DOK1, ADP-ribosyltransferase 4 (Dombrock blood group), DO/ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
External IDs	OMIM: 110600; MGI: 1202710; HomoloGene: 10883; GeneCards: ART4; OMA:ART4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.3 Start 14,825,569 bp[1] End 14,843,526 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G1|6 66.72 cM Start 136,825,449 bp[2] End 136,834,731 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in liver right lobe of liver right coronary artery right auricle thoracic aorta ascending aorta gallbladder Descending thoracic aorta left coronary artery trabecular bone Top expressed in fetal liver hematopoietic progenitor cell interventricular septum lacrimal gland lumbar spinal ganglion right lobe of liver embryo myocardium of ventricle thymus blastocyst lip More reference expression data BioGPS More reference expression data
Gene ontology 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
Orthologs Species Human Mouse 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 Mb Chr 6: 136.83 – 136.83 Mb PubMed search [3] [4]
Wikidata
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.

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
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 Art4^{tm1a(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

Further reading

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.

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

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