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Cyp27b1 Gene Detail
Summary
  • Symbol
    Cyp27b1
  • Name
    cytochrome P450, family 27, subfamily b, polypeptide 1
  • 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
  • IDs
    MGI:1098274
    NCBI Gene: 13115
Location & Maps
more
  • Sequence Map
    Chr10:127048250-127053006 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4757 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 74.50 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CYP27B1, cytochrome P450 family 27 subfamily B member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CYP27B1, cytochrome P450 family 27 subfamily B member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
  • Links
    NCBI Gene ID: 1594
    neXtProt AC: NX_O15528

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

Human Diseases
more
  • Diseases
    1 with Cyp27b1 mouse models; 1 with human CYP27B1 associations

Human Disease Mouse Models
       Vitamin D Hydroxylation-Deficient Rickets, Type 1A; VDDR1A   OMIM: 264700 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    71 phenotypes from 5 alleles in 5 genetic backgrounds
    2 images
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    21 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 13
    cDNA 8
    Primer pair 4
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 97
    Developmental Gene Expression 11
    Diseases 6
    Gene Ontology 8
    Phenotypes 56
  • 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:231534 Sonneveld R, et al., 1,25-Vitamin D3 Deficiency Induces Albuminuria. Am J Pathol. 2016 Apr;186(4):794-804

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory