| ADPRHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ADPRHL1, ARH2, ADP-ribosylhydrolase like 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610620 MGI: 2442168 HomoloGene: 16311 GeneCards: ADPRHL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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(ADP-ribosyl)hydrolase 2 (ARH2) is a protein that in humans is encoded by the ADPRHL1 gene. [5]
Function
Proteins of the ADP-ribosylhydrolase family are typically associated with the reversal of ADP-ribosylation a posttranslational modification used to regulate protein function. However, ARH2 misses catalytically important residues and is predicted to be catalytically inactive.[6] ARH2 is a cardiac-specific protein and expressed exclusively in the developing heart of vertebrates.[6] Gene loss and loss-of-function mutations are associated with defective heart chamber growth and myofibrillogenesis.[6][7]
See also
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000153531 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031448 - 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.
- ↑ "Entrez Gene: ADP-ribosylhydrolase like 1". Retrieved 2018-07-12.
- 1 2 3 Smith SJ, Towers N, Saldanha JW, Shang CA, Mahmood SR, Taylor WR, Mohun TJ (August 2016). "The cardiac-restricted protein ADP-ribosylhydrolase-like 1 is essential for heart chamber outgrowth and acts on muscle actin filament assembly". Developmental Biology. 416 (2): 373–88. doi:10.1016/j.ydbio.2016.05.006. PMC 4990356. PMID 27217161.
- ↑ Smith SJ, Towers N, Demetriou K, Mohun TJ (2020). "Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site". PLOS ONE. 15 (7): e0235433. Bibcode:2020PLoSO..1535433S. doi:10.1371/journal.pone.0235433. PMC 7390403. PMID 32726316.
Further reading
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