NP_008838.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
33.7 kDa
NCBI Official Full Name
pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1
NCBI Official Synonym Full Names
pyrroline-5-carboxylate reductase 1
NCBI Official Synonym Symbols
P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B [Similar Products]
NCBI Protein Information
pyrroline-5-carboxylate reductase 1, mitochondrial
UniProt Protein Name
Pyrroline-5-carboxylate reductase 1, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
P5CR1_HUMAN
NCBI Summary for PYCR1
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
UniProt Comments for PYCR1
PYCR1: Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. Defects in PYCR1 are the cause of cutis laxa autosomal recessive type 2B (ARCL2B). A multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, intrauterine growth retardation with some degree of postnatal growth deficiency, and developmental delay. Defects in PYCR1 are the cause of cutis laxa, autosomal recessive, type 3B (ARCL3B). ARCL3B is a disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. Belongs to the pyrroline-5-carboxylate reductase family.
Protein type: Mitochondrial; Amino Acid Metabolism - arginine and proline; Oxidoreductase; EC 1.5.1.2
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: mitochondrial matrix; mitochondrion
Molecular Function: identical protein binding; protein binding; pyrroline-5-carboxylate reductase activity
Biological Process: amino acid biosynthetic process; proline biosynthetic process; regulation of mitochondrial membrane potential
Disease: Cutis Laxa, Autosomal Recessive, Type Iib; Cutis Laxa, Autosomal Recessive, Type Iiib
Research Articles on PYCR1
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Products associated with PYCR1 recombinant protein
Pathways associated with PYCR1 recombinant protein
Diseases associated with PYCR1 recombinant protein
Organs/Tissues associated with PYCR1 recombinant protein
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