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Cyp27b1
Gene Detail
Symbol

Name
ID
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
MGI:1098274
Synonyms
1alpha(OH)ase, 25-hydroxyvitamin D3 1alpha-hydroxylase, 25(OH)D 1alpha-hydroxylase, Cp2b, Cyp1, Cyp27b, Cyp40, P450c1, P450VD1alpha, Pddr, Vdd1, Vddr, VddrI
Feature Type
protein coding gene
Genetic Map
Chromosome 10
74.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr10:127048250-127053006 bp, + strand
From VEGA annotation of GRCm38

  4757 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37139  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CYP27B1
Protein SuperFamily: cytochrome P450 CYP11B1
Gene Tree: Cyp27b1

Human
homologs
CYP27B1, cytochrome P450, family 27, subfamily B, polypeptide 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1594
neXtProt AC: NX_O15528

Human Synonyms: CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR

Human Chr (Location): 12q14.1; chr12:57762334-57767193 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CYP27B1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility.
 
Human Diseases Modeled in Mice Using Cyp27b1 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Cyp27b1 interacts with 231 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (42 annotations)
Process aging, calcitriol biosynthetic process from calciol, ...
Component cytoplasm, membrane, ...
Function calcidiol 1-monooxygenase activity, heme binding, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (232)    Tissues (153)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 185
Western blot 4
RT-PCR 43
cDNA source data(8)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cyp27b1    NEW 
Molecular
reagents
All nucleic(13) cDNA(8) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000035227 (Evidence)
Ensembl Gene Model ENSMUSG00000006724 (Evidence)
Entrez Gene 13115 (Evidence)
UniGene 6216
DFCI TC1598646, TC1590627
DoTS DT.101359084, DT.91318926
EC 1.14.13.13
Consensus CDS Project CCDS24224.2
International Mouse Phenotyping Consortium Status Cyp27b1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035227 VEGA Gene Model | MGI Sequence Detail 4757 C57BL/6J ±  kb
transcript OTTMUST00000089781 VEGA | MGI Sequence Detail 2380 Not Applicable 
polypeptide OTTMUSP00000049096 VEGA | MGI Sequence Detail 507 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(6) UniProt(3)
Polymorphisms
SNPs within 2kb(21 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001128 Cytochrome P450
InterPro IPR017972 Cytochrome P450, conserved site
InterPro IPR002401 Cytochrome P450, E-class, group I
Protein Ontology PR:000006111 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
References
(Earliest) J:43146 Takeyama K, et al., 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science. 1997 Sep 19;277(5333):1827-30
(Latest) J:218530 Sun W, et al., Active vitamin D deficiency mediated by extracellular calcium and phosphorus results in male infertility in young mice. Am J Physiol Endocrinol Metab. 2015 Jan 1;308(1):E51-62
All references(96)
Disease annotation references (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory