PYCR1

PYCR1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2GER, 2GR9, 2GRA, 2IZZ
Identifiers
Aliases	PYCR1, ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR, pyrroline-5-carboxylate reductase 1
External IDs	OMIM: 179035; MGI: 2384795; HomoloGene: 56002; GeneCards: PYCR1; OMA:PYCR1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	81,942,412 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	120,643,769 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; body of pancreas; ; parotid gland; ; ventricular zone; ; mucosa of transverse colon; ; pancreatic ductal cell; ; embryo; ; ganglionic eminence; ; tibia; ; minor salivary glands;
	Top expressed in
	parotid gland; ; lacrimal gland; ; clavicle; ; calvaria; ; molar; ; seminal vesicula; ; body of femur; ; internal carotid artery; ; external carotid artery; ; fossa;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity; protein binding; pyrroline-5-carboxylate reductase activity; identical protein binding;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	regulation of mitochondrial membrane potential; cellular response to oxidative stress; negative regulation of hydrogen peroxide-induced cell death; cellular amino acid biosynthetic process; L-proline biosynthetic process; proline biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	5831
	209027
	ENSG00000183010
	ENSMUSG00000025140
	P32322
	Q922W5
NM_001282279; NM_001282280; NM_001282281; NM_006907; NM_153824;
	NM_001330523
	NM_144795; NM_001348222
NP_001269208; NP_001269209; NP_001269210; NP_001317452; NP_008838;
	NP_722546
NP_001335151; NP_001366014; NP_001366015; NP_001366016; NP_001366017;
	NP_001366018
	Wikidata
View/Edit Human	View/Edit Mouse

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene.^[5]^[6]

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms.^[6] As reported by Bruno Reversade and colleagues, PYCR1 deficiency in humans causes a progeroid disease known as De Barsy Syndrome mainly affecting connective tissues with dermis thinning and bone fragility.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183010 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025140 – 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.
^ Dougherty KM, Brandriss MC, Valle D (January 1992). "Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae". The Journal of Biological Chemistry. 267 (2): 871–5. doi:10.1016/S0021-9258(18)48364-0. PMID 1730675.
^ ^a ^b "Entrez Gene: PYCR1 pyrroline-5-carboxylate reductase 1".
^ Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.

External links

PDBe-KB provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

Zdroj:https://en.wikipedia.org?pojem=PYCR1
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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183010 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025140 – 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.

[pmid1730675-5] Dougherty KM, Brandriss MC, Valle D (January 1992). "Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae". The Journal of Biological Chemistry. 267 (2): 871–5. doi:10.1016/S0021-9258(18)48364-0. PMID 1730675.

[entrez-6] "Entrez Gene: PYCR1 pyrroline-5-carboxylate reductase 1".

[7] Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.

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References

Further reading

External links