CYP24A1
entrez
1591
canonical
uniprot
Q07973
canonical
ensembl
ENSG00000019186
resolver
ensp
ENSP00000216862
resolver
ensp
ENSP00000379285
resolver
ensp
ENSP00000539594
resolver
ensp
ENSP00000539595
resolver
genesymbol
CYP24A1
resolver
genesymbol_syn
CYP24
resolver
hgnc
HGNC:2602
resolver
uniprot
Q15807
resolver
uniprot
Q32ML3
resolver
uniprot
Q5I2W7
resolver
uniprot_entry
CP24A_HUMAN
resolver
uniprot_sec
Q15807
resolver
uniprot_sec
Q32ML3
resolver
uniprot_sec
Q5I2W7
resolver
amino_acid_sequence
MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR
uniprot
proteins
disease_involvement
DISEASE: Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269|PubMed:21675912}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.15.16
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:11012668, PubMed:15574355, PubMed:16617161, PubMed:24893882, PubMed:29461981, PubMed:8679605). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:15574355, PubMed:24893882). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605). {ECO:0000269|PubMed:11012668, ECO:0000269|PubMed:15574355, ECO:0000269|PubMed:16617161, ECO:0000269|PubMed:24893882, ECO:0000269|PubMed:25727742, ECO:0000269|PubMed:29461981, ECO:0000269|PubMed:8679605}.
uniprot
proteins
mass_dalton
58875
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
11012668
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15574355
uniprot
proteins
pubmed
15788398
uniprot
proteins
pubmed
16617161
uniprot
proteins
pubmed
21675912
uniprot
proteins
pubmed
24893882
uniprot
proteins
pubmed
25727742
uniprot
proteins
pubmed
29461981
uniprot
proteins
pubmed
7632726
uniprot
proteins
pubmed
8266831
uniprot
proteins
pubmed
8506296
uniprot
proteins
pubmed
8679605
uniprot
proteins
sequence_length
514
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q09128}.
uniprot
proteins