Pyridine nucleotide-disulphide oxidoreductase domain 1

PYROXD1
Identifiers
Aliases	PYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1, MFM8
External IDs	OMIM: 617220; MGI: 2676395; HomoloGene: 11758; GeneCards: PYROXD1; OMA:PYROXD1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	21,471,250 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	142,308,983 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; mucosa of sigmoid colon; ; jejunal mucosa; ; kidney tubule; ; Epithelium of choroid plexus; ; endothelial cell; ; Achilles tendon; ; biceps brachii; ; bronchial epithelial cell; ; body of pancreas;
	Top expressed in
	tail of embryo; ; genital tubercle; ; proximal tubule; ; spermatid; ; right kidney; ; duodenum; ; jejunum; ; muscle of thigh; ; Paneth cell; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; oxidoreductase activity;
Cellular component	nucleus; cytoplasm; sarcomere;
Biological process	cellular response to oxidative stress;
	Sources:Amigo / QuickGO
Orthologs
	79912
	232491
	ENSG00000121350
	ENSMUSG00000041671
	Q8WU10
	Q3TMV7
	NM_024854; NM_001350912; NM_001350913
	NM_183165
	NP_079130; NP_001337841; NP_001337842
	NP_898988
	Wikidata
View/Edit Human	View/Edit Mouse

Pyridine nucleotide-disulphide oxidoreductase domain 1 is a protein that in humans is encoded by the PYROXD1 gene. ^[5]

Function

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121350 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041671 – 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: Pyridine nucleotide-disulphide oxidoreductase domain 1". Retrieved 2018-05-16.

Pyridine nucleotide-disulphide oxidoreductase domain 1

Function

References

Further reading