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
Protein-Protein network diagram for PYCR1

Retrieve sequences for PYCR1

ORF
ORF
CDS
CDS

Homologs in model organisms

Mus musculus
Pycr1
Rattus norvegicus
Pycr1

Selected references

External links

EPD
ORF Accession
NM_153824
CDS Accession
NP_722546
OMIM
179035
HPRD
01528
Ensembl
PYCR1
UniProt/Swiss-Prot
B4DMU0_HUMAN
GeneCards
PYCR1
Entrez Gene
5831
UniGene
163451
GenAtlas
PYCR1
Internet
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