CRYM
entrez
1428
canonical
uniprot
Q14894
canonical
ensembl
ENSG00000103316
resolver
ensp
ENSP00000219599
resolver
ensp
ENSP00000440227
resolver
ensp
ENSP00000461904
resolver
enst
ENST00000219599
resolver
enst
ENST00000543948
resolver
enst
ENST00000572914
resolver
genesymbol
CRYM
resolver
genesymbol_syn
THBP
resolver
hgnc
HGNC:2418
resolver
uniprot
D5MNX0
resolver
uniprot
Q5HYB7
resolver
uniprot_entry
CRYM_HUMAN
resolver
uniprot_sec
D5MNX0
resolver
uniprot_sec
Q5HYB7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by thyroid hormones triiodothyronine (T3) and thyroxine (T4). {ECO:0000269|PubMed:21332720, ECO:0000269|PubMed:25931162}.
uniprot
proteins
amino_acid_sequence
MSRVPAFLSAAEVEEHLRSSSLLIPPLETALANFSSGPEGGVMQPVRTVVPVTKHRGYLGVMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFEPSNGTLLAVMDGNVITAKRTAAVSAIATKFLKPPSSEVLCILGAGVQAYSHYEIFTEQFSFKEVRIWNRTKENAEKFADTVQGEVRVCSSVQEAVAGADVIITVTLATEPILFGEWVKPGAHINAVGASRPDWRELDDELMKEAVLYVDSQEAALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTTVFKSLGMAVEDTVAAKLIYDSWSSGK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 40 (DFNA40) [MIM:616357]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:12471561, ECO:0000269|PubMed:32742378}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.1.1
uniprot
proteins
ec_number
1.5.1.25
uniprot
proteins
function
FUNCTION: Catalyzes the NAD(P)H-dependent reduction of imine double bonds of a number of cyclic ketimine substrates, including sulfur-containing cyclic ketimines (PubMed:21332720, PubMed:25931162). Under physiological conditions, it efficiently catalyzes delta(1)-piperideine-2-carboxylate (P2C) and delta(1)-pyrroline-2-carboxylate (Pyr2C) reduction, suggesting a central role in lysine and glutamate metabolism (PubMed:25931162). Additional substrates are delta(2)-thiazoline-2-carboxylate (T2C), 3,4-dehydrothiomorpholine-3-carboxylate (AECK), and (R)-lanthionine ketimine (LK) that is reduced at very low rate compared to other substrates (PubMed:25931162). Also catalyzes the NAD(P)H-dependent reduction of (S)-cystathionine ketimine (CysK) (By similarity). {ECO:0000250|UniProtKB:Q2KHX6, ECO:0000269|PubMed:21332720, ECO:0000269|PubMed:25931162, ECO:0000269|PubMed:9328354}.
uniprot
proteins
mass_dalton
33776
uniprot
proteins
protein_family
Ornithine cyclodeaminase/mu-crystallin family
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
12471561
uniprot
proteins
pubmed
1384048
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16740909
uniprot
proteins
pubmed
17242435
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21332720
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25931162
uniprot
proteins
pubmed
32742378
uniprot
proteins
pubmed
9285773
uniprot
proteins
pubmed
9328354
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12471561}.
uniprot
proteins