cytochrome P450 family 27 subfamily B member 1

Summary
Gene Symbol
  • CYP27B1
Aliases
  • 1alpha(OH)ase
  • 25-Hydroxyvitamin D3 1alpha-hydroxylase
  • CYP1
  • Calcidiol 1-monooxygenase
  • P450c1
  • VDDR I
Organism
Homo sapiens (human)
External Links
NCBI Gene
1594
HGNC
2606
KEGG Gene ID
hsa:1594
PubChem
1594
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Heme
  • Lipid metabolism
  • Membrane
  • Mitochondrion
  • Monooxygenase
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
O15528
  • 25-OHD-1 alpha-hydroxylase
  • 25-hydroxyvitamin D(3) 1-alpha-hydroxylase
  • Calcidiol 1-monooxygenase
  • Cytochrome P450 subfamily XXVIIB polypeptide 1
  • Cytochrome P450C1 alpha
  • Cytochrome P450VD1-alpha
  • Cytochrome p450 27B1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K07438
Name
calcidiol 1-monooxygenase (25-hydroxyvitamin D3 1alpha-hydroxylase) [EC:1.14.15.18]
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 223 in total
DO ID Disease Name Source
DOID:11335 sarcoidosis
DOID:11476 osteoporosis
DOID:11714 gestational diabetes
DOID:11984 hypertrophic cardiomyopathy
DOID:12030 panuveitis
DOID:12123 postinflammatory pulmonary fibrosis
DOID:12347 osteogenesis imperfecta
DOID:12361 Graves' disease
DOID:12466 secondary hyperparathyroidism
DOID:12678 hypercalcemia
The Human Phenotype Ontology
Displaying entries 41 - 50 of 60 in total
HPO ID HPO Term
HP:0003020 Enlargement of the wrists
HP:0003025 Metaphyseal irregularity
HP:0003029 Enlargement of the ankles
HP:0003106 Subperiosteal bone resorption
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0003165 Elevated circulating parathyroid hormone level
HP:0003698 Difficulty standing
HP:0004322 Short stature
HP:0004492 Widely patent fontanelles and sutures
HP:0005042 Irregular, rachitic-like metaphyses
Displaying all 2 entries
Disease ID Disease Name
OMIM:264700
  • vitamin D-dependent rickets, type 1A
ORPHA:289157
  • vitamin D-dependent rickets, type 1
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000490
Gene Name
cytochrome P450, family 27, subfamily B, polypeptide 1

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Supported by JST NBDC Grant Number JPMJND2204

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