ADPRHL1
Identifiers
AliasesADPRHL1, ARH2, ADP-ribosylhydrolase like 1
External IDsOMIM: 610620 MGI: 2442168 HomoloGene: 16311 GeneCards: ADPRHL1
Orthologs
SpeciesHumanMouse
Entrez

113622

234072

Ensembl

ENSG00000153531

ENSMUSG00000031448

UniProt

Q8NDY3

Q8BGK2

RefSeq (mRNA)

NM_199162
NM_138430

NM_172750

RefSeq (protein)

NP_612439
NP_954631

NP_766338

Location (UCSC)Chr 13: 113.4 – 113.45 MbChr 8: 13.27 – 13.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

(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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000153531 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031448 - 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. "Entrez Gene: ADP-ribosylhydrolase like 1". Retrieved 2018-07-12.
  6. 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.
  7. 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

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

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