Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1594
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 27 subfamily B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP27B1
Synonyms (NCBI Gene) Gene synonyms aliases
CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encode
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28934604 C>T Likely-pathogenic Missense variant, coding sequence variant
rs28934605 C>T Pathogenic Missense variant, coding sequence variant
rs28934606 C>G,T Pathogenic Missense variant, coding sequence variant
rs28934607 G>A Pathogenic Missense variant, coding sequence variant
rs118204007 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029947 hsa-miR-26b-5p Microarray 19088304
MIRT051080 hsa-miR-16-5p CLASH 23622248
MIRT049861 hsa-miR-31-5p CLASH 23622248
MIRT711962 hsa-miR-1178-5p HITS-CLIP 19536157
MIRT711961 hsa-miR-18a-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
GFI1 Repression 15947108;17207994
NFKB1 Unknown 19928584
RELA Unknown 19928584
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004498 Function Calcidiol 1-monooxygenase activity IBA 21873635
GO:0004498 Function Calcidiol 1-monooxygenase activity IDA 9415400, 15795327, 16549446, 17023519, 22862690
GO:0004498 Function Calcidiol 1-monooxygenase activity TAS
GO:0005506 Function Iron ion binding IEA
GO:0005737 Component Cytoplasm IDA 15589699, 16720713
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609506 2606 ENSG00000111012
Protein
UniProt ID O15528
Protein name 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 41 505 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Kidney. {ECO:0000269|PubMed:9428799, ECO:0000269|PubMed:9486994}.
Sequence
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Steroid biosynthesis
Metabolic pathways
Parathyroid hormone synthesis, secretion and action
Tuberculosis
  Vitamin D (calciferol) metabolism
Vitamins
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypercalcemia Hypercalcemia rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244
View all (1 more)
20427501
Hyperparathyroidism Hyperparathyroidism, Secondary rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709
View all (14 more)
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
19525955
Vitamin d-dependent rickets Vitamin D-dependent rickets, type 1 rs28934604, rs28934605, rs28934606, rs387906258, rs387906259, rs387906260, rs118204007, rs761780097, rs118204008, rs118204009, rs2140397731, rs770204470, rs118204010, rs118204011, rs61495246
View all (23 more)
10518789, 22443290, 25284246, 12050193, 21700898, 30282619, 11737215, 9486994, 9837822, 10320521, 23423976, 10566658
Unknown
Disease term Disease name Evidence References Source
Vitamin D-Dependent Rickets vitamin D-dependent rickets, type 1A GenCC
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Inhibit 28033387
Addison Disease Associate 24614117
Adenoma Stimulate 22511602
Adenoma Islet Cell Associate 23979957
Arthritis Rheumatoid Associate 34925313
Asthma Associate 36839181
Autism Spectrum Disorder Associate 26073892
Autoimmune Diseases Associate 23614044, 25060765
Bipolar Disorder Associate 35279108
Bone Diseases Metabolic Associate 30887870