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 1 - 10 of 223 in total
DO ID Disease Name Source
DOID:0050336 hypophosphatemia
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050445 X-linked dominant hypophosphatemic rickets
DOID:0050459 hyperphosphatemia
DOID:0050486 exanthem
DOID:0050589 inflammatory bowel disease
DOID:0050700 cardiomyopathy
DOID:0050801 androgenic alopecia
DOID:0050865 tongue squamous cell carcinoma
DOID:0060058 lymphoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 60 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000684 Delayed eruption of teeth
HP:0000737 Irritability
HP:0000867 Secondary hyperparathyroidism
HP:0000886 Deformed rib cage
HP:0000893 Bulging of the costochondral junction
HP:0000897 Rachitic rosary
HP:0000920 Enlargement of the costochondral junction
HP:0001252 Hypotonia
HP:0001270 Motor delay
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024