GenAge entry for PYCR1 (Homo sapiens)

Gene name (HAGRID: 280)

HGNC symbol: PYCR1
Aliases: P5C
Common name: pyrroline-5-carboxylate reductase 1

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description: The PYCR1 gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. It appears that mutations in PYCR1 result in altered mitochondrial function and progeroid changes in connective tissues. Defects in the PYCR1 gene are the cause of cutis laxa autosomal recessive type 2B, a syndromal disorder characterized by the appearance of premature ageing, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, growth retardation and developmental delay. Homozygosity or compound heterozygosity for mutations in the PYCR1 gene were found in consanguineous human families, and knockdown of the orthologous genes in Xenopus and zebrafish resulted in epidermal hypoplasia and blistering, accompanied by a massive increase of apoptosis [2202]. Further research is needed in order to fully understand the link between PYCR1 and human ageing.

Cytogenetic information

Cytogenetic band: 17q25.3
Location: 81,932,386 bp to 81,937,257 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0006561; proline biosynthetic process
GO:0008652; cellular amino acid biosynthetic process
GO:0034599; cellular response to oxidative stress
GO:0051881; regulation of mitochondrial membrane potential
GO:0055114; oxidation-reduction process
GO:0055129; L-proline biosynthetic process
GO:1903206; negative regulation of hydrogen peroxide-induced cell death

Cellular component:

GO:0005739; mitochondrion
GO:0005759; mitochondrial matrix

Function:

GO:0004735; pyrroline-5-carboxylate reductase activity
GO:0005515; protein binding
GO:0042802; identical protein binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: BMI1
STRING interaction network

Retrieve sequences for PYCR1

ORF: ORF
CDS: CDS

Homologs in model organisms

Mus musculus: Pycr1
Rattus norvegicus: Pycr1