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 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)		12q13.1-q13.3; chr12:58156117-58160976 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CYP27B1

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

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: (29 annotations)

Process	calcitriol biosynthetic process from calciol, calcium ion homeostasis, ...
Component	cytoplasm, membrane, ...
Function	calcidiol 1-monooxygenase activity, electron carrier activity, ...

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (141)    Tissues (114)   
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	94
Western blot	4
RT-PCR	43

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(12) cDNA(8) Primer pair(4)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000035227 (Evidence)
Ensembl Gene Model	ENSMUSG00000006724 (Evidence)
Entrez Gene	13115 (Evidence)
UniGene	6216
DFCI	TC1590627, TC1598646
DoTS	DT.101359084, DT.91318926
EC	1.14.13.13
Consensus CDS Project	CCDS24224.2
International Mouse Knockout Project Status	Cyp27b1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035227	VEGA Gene Model | MGI Sequence Detail	4757	C57BL/6J
transcript	OTTMUST00000089781	VEGA | MGI Sequence Detail	2380	Not Applicable
polypeptide	OTTMUSP00000049096	VEGA | MGI Sequence Detail	507	Not Applicable

All sequences(27) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(21 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:195419 Sonneveld R, et al., Vitamin D down-regulates TRPC6 expression in podocyte injury and proteinuric glomerular disease. Am J Pathol. 2013 Apr;182(4):1196-204
All references(87)