PYCR1
entrez
5831
canonical
uniprot
P32322
canonical
ensembl
ENSG00000183010
resolver
ensp
ENSP00000328858
resolver
ensp
ENSP00000336579
resolver
ensp
ENSP00000384949
resolver
ensp
ENSP00000385483
resolver
ensp
ENSP00000463352
resolver
ensp
ENSP00000479793
resolver
ensp
ENSP00000485679
resolver
ensp
ENSP00000593024
resolver
enst
ENST00000403172
resolver
enst
ENST00000577756
resolver
enst
ENST00000629768
resolver
enst
ENST00000922965
resolver
genesymbol
PYCR1
resolver
hgnc
HGNC:9721
resolver
uniprot
A6NFM2
resolver
uniprot
B4DMU0
resolver
uniprot
E2QRB3
resolver
uniprot
J3QL32
resolver
uniprot
Q6FHI4
resolver
uniprot
Q8TBX0
resolver
uniprot
Q96DI6
resolver
uniprot
Q9HBQ4
resolver
uniprot_entry
E2QRB3_HUMAN
resolver
uniprot_entry
J3QL32_HUMAN
resolver
uniprot_entry
P5CR1_HUMAN
resolver
uniprot_entry
Q8TBX0_HUMAN
resolver
uniprot_sec
A6NFM2
resolver
uniprot_sec
B4DMU0
resolver
uniprot_sec
Q6FHI4
resolver
uniprot_sec
Q96DI6
resolver
uniprot_sec
Q9HBQ4
resolver
activity_regulation
ACTIVITY REGULATION: Subject to competitive inhibition by the reaction product proline (PubMed:16730026, PubMed:23024808). Subject to competitive inhibition by stearoyl coenzyme A (PubMed:16730026). {ECO:0000269|PubMed:16730026, ECO:0000269|PubMed:23024808}.
uniprot
proteins
amino_acid_sequence
MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETVQHSDVLFLAVKPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRCMTNTPVVVREGATVYATGTHAQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLLHSEQHPGQLKDNVSSPGGATIHALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPAAIKKTILDKVKLDSPAGTALSPSGHTKLLPRSLAPAGKD
uniprot
proteins
disease_involvement
DISEASE: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]: 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. {ECO:0000269|PubMed:19576563, ECO:0000269|PubMed:19648921}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]: A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. {ECO:0000269|PubMed:19648921, ECO:0000269|PubMed:22052856}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.1.2
uniprot
proteins
function
FUNCTION: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921). {ECO:0000269|PubMed:16730026, ECO:0000269|PubMed:19648921, ECO:0000269|PubMed:23024808, ECO:0000269|PubMed:28258219}.
uniprot
proteins
mass_dalton
33361
uniprot
proteins
mutagenesis
MUTAGEN 221; /note="E->A: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:16730026"; MUTAGEN 238; /note="T->A: Decreased pyrroline-5-carboxylate reductase activity."; /evidence="ECO:0000269|PubMed:28258219
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.
uniprot
proteins
protein_family
Pyrroline-5-carboxylate reductase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16730026
uniprot
proteins
pubmed
1730675
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19576563
uniprot
proteins
pubmed
19648921
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22052856
uniprot
proteins
pubmed
23024808
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24930674
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28258219
uniprot
proteins
sequence_length
319
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19648921, ECO:0000269|PubMed:23024808}.
uniprot
proteins