PYCR2
entrez
29920
canonical
uniprot
Q96C36
canonical
ensembl
ENSG00000143811
resolver
ensp
ENSP00000342502
resolver
ensp
ENSP00000478165
resolver
enst
ENST00000343818
resolver
enst
ENST00000612039
resolver
genesymbol
PYCR2
resolver
hgnc
HGNC:30262
resolver
uniprot
A0A087WTV6
resolver
uniprot
A0A0S2Z5U6
resolver
uniprot
A8K798
resolver
uniprot
Q7Z515
resolver
uniprot
Q9Y5J4
resolver
uniprot_entry
A0A087WTV6_HUMAN
resolver
uniprot_entry
A0A0S2Z5U6_HUMAN
resolver
uniprot_entry
P5CR2_HUMAN
resolver
uniprot_sec
A8K798
resolver
uniprot_sec
Q7Z515
resolver
uniprot_sec
Q9Y5J4
resolver
activity_regulation
ACTIVITY REGULATION: Subject to competitive inhibition by NADP (PubMed:2722838, PubMed:6894153). Was reported not to be inhibited by proline (PubMed:2722838, PubMed:6894153). However other study demonstrated an inhibition by proline (PubMed:23024808). {ECO:0000269|PubMed:23024808, ECO:0000269|PubMed:2722838, ECO:0000269|PubMed:6894153}.
uniprot
proteins
amino_acid_sequence
MSVGFIGAGQLAYALARGFTAAGILSAHKIIASSPEMNLPTVSALRKMGVNLTRSNKETVKHSDVLFLAVKPHIIPFILDEIGADVQARHIVVSCAAGVTISSVEKKLMAFQPAPKVIRCMTNTPVVVQEGATVYATGTHALVEDGQLLEQLMSSVGFCTEVEEDLIDAVTGLSGSGPAYAFMALDALADGGVKMGLPRRLAIQLGAQALLGAAKMLLDSEQHPCQLKDNVCSPGGATIHALHFLESGGFRSLLINAVEASCIRTRELQSMADQEKISPAALKKTLLDRVKLESPTVSTLTPSSPGKLLTRSLALGGKKD
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420]: An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume. {ECO:0000269|PubMed:25865492}. 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:23024808, PubMed:2722838, PubMed:6894153). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:23024808, PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492). In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+) (PubMed:2722838, PubMed:6894153). {ECO:0000269|PubMed:23024808, ECO:0000269|PubMed:25865492, ECO:0000269|PubMed:2722838, ECO:0000269|PubMed:6894153}.
uniprot
proteins
mass_dalton
33637
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by UBE4B, leading to proteasomal degradation. {ECO:0000269|PubMed:35669517}.
uniprot
proteins
protein_family
Pyrroline-5-carboxylate reductase family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23024808
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24930674
uniprot
proteins
pubmed
25865492
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2722838
uniprot
proteins
pubmed
35669517
uniprot
proteins
pubmed
6894153
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:2722838}. Mitochondrion {ECO:0000269|PubMed:23024808, ECO:0000269|PubMed:25865492}.
uniprot
proteins