UniProt:O15528 CYP27B1

chain
  • transit peptide:1-
  • chain:-508
checksum 7F0611EFAD1B5C1C
comment
  • FUNCTION A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:9486994, PubMed:22862690, PubMed:10566658, PubMed:12050193). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). 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:22862690).CATALYTIC ACTIVITY calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = calcitriol + H2O + 2 oxidized [adrenodoxin]CATALYTIC ACTIVITY 2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin]CATALYTIC ACTIVITY 25-hydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1,25-dihydroxy-24-oxocalciol + H2O + 2 oxidized [adrenodoxin]CATALYTIC ACTIVITY 25-hydroxyvitamin D2 + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 1alpha,25-dihydroxyvitamin D2 + H2O + 2 oxidized [adrenodoxin]COFACTOR Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration.BIOPHYSICOCHEMICAL PROPERTIES Hormone biosynthesis; vitamin D biosynthesis.SUBCELLULAR LOCATION Kidney.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the cytochrome P450 family.
crossReference
databaseName UniProt
dbId 52636
description
  • recommendedName: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ecNumber evidence="5"1.14.15.18 alternativeName: 25-OHD-1 alpha-hydroxylase alternativeName: 25-hydroxyvitamin D(3) 1-alpha-hydroxylase shortName: VD3 1A hydroxylase alternativeName: Calcidiol 1-monooxygenase alternativeName: Cytochrome P450 subfamily XXVIIB polypeptide 1 alternativeName: Cytochrome P450C1 alpha alternativeName: Cytochrome P450VD1-alpha alternativeName: Cytochrome p450 27B1
displayName UniProt:O15528 CYP27B1
geneName
  • CYP27B1
  • CYP1ALPHA
  • CYP27B
identifier O15528
isSequenceChanged false
keyword
  • Disease variant
  • Heme
  • Iron
  • Lipid metabolism
  • Membrane
  • Metal-binding
  • Mitochondrion
  • Monooxygenase
  • Oxidoreductase
  • Reference proteome
  • Transit peptide
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • CYP27B1
otherIdentifier
  • 11722122_at
  • 11722123_a_at
  • 1594
  • 16766701
  • 205676_PM_at
  • 205676_at
  • 3458820
  • 3458821
  • 3458822
  • 3458823
  • 3458824
  • 3458825
  • 3458827
  • 3458828
  • 3458830
  • 3458832
  • 3458834
  • 3458835
  • 38909_at
  • 7964535
  • A_23_P36397
  • GE53119
  • GO:0002376
  • GO:0003824
  • GO:0004497
  • GO:0004498
  • GO:0005506
  • GO:0005737
  • GO:0005739
  • GO:0005741
  • GO:0006629
  • GO:0006766
  • GO:0006816
  • GO:0008285
  • GO:0010956
  • GO:0010980
  • GO:0016020
  • GO:0016491
  • GO:0016705
  • GO:0020037
  • GO:0022414
  • GO:0023052
  • GO:0030154
  • GO:0030282
  • GO:0030308
  • GO:0030500
  • GO:0031966
  • GO:0032496
  • GO:0033280
  • GO:0034341
  • GO:0036378
  • GO:0042359
  • GO:0042368
  • GO:0042369
  • GO:0043226
  • GO:0043627
  • GO:0045618
  • GO:0046697
  • GO:0046872
  • GO:0048856
  • GO:0055065
  • GO:0055074
  • GO:0062185
  • GO:0070314
  • GO:0070564
  • GO:0098542
  • HMNXSV003017836
  • ILMN_1740418
  • PH_hs_0011704
  • TC12001634.hg
  • TC12002920.hg
  • g4503212_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CP27B_HUMAN
  • B2RC61
  • Q548T3
sequenceLength 508
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/O15528
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