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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 zebrafish

Protein SuperFamily: cytochrome P450 CYP11B1
Gene Tree: Cyp27b1

Human
homologs
Human Homolog CYP27B1, cytochrome P450, family 27, subfamily B, polypeptide 1
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
Disease Associations  (1) Diseases Associated with Human CYP27B1
Alleles
and
phenotypes
All alleles(7) : Targeted(7)
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 Using Mouse Cyp27b1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(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: (9 records)
Data Summary: Results (232)    Tissues (152)    Images (4)
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 185
Western blot 4
RT-PCR 43
cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(13) cDNA(8) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000035227 (Evidence)
Ensembl Gene ModelENSMUSG00000006724 (Evidence)
Entrez Gene13115 (Evidence)
UniGene6216
DFCITC1590627, TC1598646
DoTSDT.101359084, DT.91318926
EC1.14.13.13
Consensus CDS ProjectCCDS24224.2
International Mouse Knockout Project StatusCyp27b1
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(29) RefSeq(4) 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:206461 Vadakke Madathil S, et al., Klotho deficiency disrupts hematopoietic stem cell development and erythropoiesis. Am J Pathol. 2014 Mar;184(3):827-41
All references(92)

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
07/15/2014
MGI 5.18
The Jackson Laboratory