ADP-ribosylhydrolase 2

ADPRHL1
Identifiers
Aliases	ADPRHL1, ARH2, ADP-ribosylhydrolase like 1
External IDs	OMIM: 610620 MGI: 2442168 HomoloGene: 16311 GeneCards: ADPRHL1
Gene location (Human)
Chr.	Chromosome 13 (human)
End	113,453,524 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	13,304,162 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; right ventricle; ; tibialis anterior muscle; ; skeletal muscle tissue; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; biceps brachii; ; deltoid muscle; ; tibia; ; body of tongue;
	Top expressed in
	myocardium of ventricle; ; soleus muscle; ; left ventricle; ; atrioventricular valve; ; ankle; ; atrium; ; intercostal muscle; ; aortic valve; ; endocardial cushion; ; thoracic diaphragm;
	More reference expression data
	n/a
Gene ontology
Molecular function	magnesium ion binding; hydrolase activity; ADP-ribosylarginine hydrolase activity; GTPase activator activity;
Cellular component	endomembrane system; intracellular anatomical structure;
Biological process	protein de-ADP-ribosylation; activation of GTPase activity; intracellular protein transport; regulation of vesicle fusion;
	Sources:Amigo / QuickGO
Orthologs
	113622
	234072
	ENSG00000153531
	ENSMUSG00000031448
	Q8NDY3
	Q8BGK2
	NM_199162; NM_138430
	NM_172750
	NP_612439; NP_954631
	NP_766338
	Wikidata
View/Edit Human	View/Edit Mouse

(ADP-ribosyl)hydrolase 2 (ARH2) is a protein that in humans is encoded by the ADPRHL1 gene. ^[5]

Function[edit]

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]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000153531 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b ^c 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.

ADP-ribosylhydrolase 2

Function[edit]

See also[edit]

References[edit]

Further reading[edit]