Entity Details

Primary name P5CR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP32322
EntryNameP5CR1_HUMAN
FullNamePyrroline-5-carboxylate reductase 1, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length319
SequenceStatuscomplete
DateCreated1993-10-01
DateModified2021-06-02

Ontological Relatives

GenesPYCR1

GO terms

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GOName
GO:0004735 pyrroline-5-carboxylate reductase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006561 proline biosynthetic process
GO:0009064 glutamine family amino acid metabolic process
GO:0034599 cellular response to oxidative stress
GO:0042802 identical protein binding
GO:0051881 regulation of mitochondrial membrane potential
GO:0055129 L-proline biosynthetic process
GO:1903206 negative regulation of hydrogen peroxide-induced cell death

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000304 Pyrroline-5-carboxylate reductaseFamilyFamily
IPR008927 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamilyFamilyHomologous superfamily
IPR028939 Pyrroline-5-carboxylate reductase, catalytic, N-terminalDomainDomain
IPR029036 Pyrroline-5-carboxylate reductase, dimerisation domainDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612940 OMIMCutis laxa, autosomal recessive, 2B (ARCL2B)A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities. The disease is caused by variants affecting the gene represented in this entry.
614438 OMIMCutis laxa, autosomal recessive, 3B (ARCL3B)A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB00172 ProlineDrugbanksmall molecule