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Aliases for CYP27B1 Gene

Aliases for CYP27B1 Gene

  • Cytochrome P450 Family 27 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Family 27, Subfamily B, Polypeptide 1 2 3
  • Cytochrome P450 Subfamily XXVIIB Polypeptide 1 3 4
  • 25-OHD-1 Alpha-Hydroxylase 3 4
  • Calcidiol 1-Monooxygenase 3 4
  • Cytochrome P450VD1-Alpha 3 4
  • Cytochrome P450C1 Alpha 3 4
  • Cytochrome P450 27B1 3 4
  • VD3 1A Hydroxylase 3 4
  • 1alpha(OH)Ase 2 3
  • CYP1alpha 3 4
  • CYP27B 3 4
  • Cytochrome P450, Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase), Polypeptide 1 2
  • 25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial 3
  • 25-Hydroxyvitamin D(3) 1-Alpha-Hydroxylase 4
  • 25 Hydroxyvitamin D3-1-Alpha Hydroxylase 3
  • 25-Hydroxyvitamin D3 1alpha-Hydroxylase 2
  • EC 1.14.15.18 4
  • VDDR I 2
  • P450c1 3
  • VDDRI 3
  • CYP1 3
  • CP2B 3
  • VDDR 3
  • PDDR 3
  • VDD1 3
  • VDR 3

External Ids for CYP27B1 Gene

Previous HGNC Symbols for CYP27B1 Gene

  • VDD1
  • PDDR

Previous GeneCards Identifiers for CYP27B1 Gene

  • GC12M058299
  • GC12M057872
  • GC12M056442
  • GC12M058156
  • GC12M055192

Summaries for CYP27B1 Gene

Entrez Gene Summary for CYP27B1 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 encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP27B1 Gene

CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP27B1 include Vitamin D-Dependent Rickets, Type I and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Tuberculosis. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP27A1.

UniProtKB/Swiss-Prot for CYP27B1 Gene

  • Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.

Gene Wiki entry for CYP27B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27B1 Gene

Genomics for CYP27B1 Gene

Regulatory Elements for CYP27B1 Gene

Enhancers for CYP27B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G057863 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 -95.9 -95933 2.6 ATF1 SIN3A GLIS2 FOS DEK SP3 REST SMARCB1 SMARCA4 GLIS1 EEF1AKMT3 MIR26A2 CDK4 AVIL RNU6-1083P TSFM METTL1 CYP27B1 MARCH9 CTDSP2
GH12G057905 1.6 Ensembl ENCODE dbSUPER 10.7 -136.6 -136644 0.9 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF143 DEK ZNF263 ZHX2 MXD4 ATP23 MIR26A2 RNU6-1083P CTDSP2 AVIL TSFM CYP27B1 METTL1 EEF1AKMT3 CDK4
GH12G057868 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -100.4 -100381 2.0 PKNOX1 POLR2A SMARCA4 SCRT2 KLF17 FOXP2 ZBTB8A EEF1AKMT3 AVIL CTDSP2 MIR26A2 TSFM METTL1 CYP27B1 RNU6-1083P CDK4 MARCH9
GH12G057851 1.3 Ensembl ENCODE dbSUPER 10.5 -83.6 -83559 2.8 CTCF USF1 SUZ12 ZNF133 MAX ZNF223 RBBP5 RAD21 ZNF664 ZNF316 TSFM MIR26A2 RNU6-1083P CYP27B1 METTL1 EEF1AKMT3 CTDSP2 LOC102724211
GH12G057743 1.1 ENCODE 11.9 +23.9 23865 2.7 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 YY1 ZNF766 ZNF143 TSFM CYP27B1 EEF1AKMT3 METTL1 NEMP1 DDIT3 MBD6 MIR616 ATP23 TSPAN31
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP27B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP27B1 Gene

Chromosome:
12
Start:
57,762,334 bp from pter
End:
57,768,986 bp from pter
Size:
6,653 bases
Orientation:
Minus strand

Genomic View for CYP27B1 Gene

Genes around CYP27B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP27B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP27B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP27B1 Gene

Proteins for CYP27B1 Gene

  • Protein details for CYP27B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15528-CP27B_HUMAN
    Recommended name:
    25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
    Protein Accession:
    O15528
    Secondary Accessions:
    • B2RC61
    • Q548T3

    Protein attributes for CYP27B1 Gene

    Size:
    508 amino acids
    Molecular mass:
    56504 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP27B1 Gene

Post-translational modifications for CYP27B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP27B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP27B1 Gene

Domains & Families for CYP27B1 Gene

Gene Families for CYP27B1 Gene

Protein Domains for CYP27B1 Gene

Suggested Antigen Peptide Sequences for CYP27B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15528

UniProtKB/Swiss-Prot:

CP27B_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP27B1: view

Function for CYP27B1 Gene

Molecular function for CYP27B1 Gene

GENATLAS Biochemistry:
cytochrome P450,subfamily XXVIIB,polypeptide 1,25 hydroxyvitamin D3-1 alpha-hydroxylase,mitochondrial,expressed and uptaken by the epithelial cell of the proximal tubule,in a complex with D binding protein,catalyzing the formation of active 1,25-dihydroxyvitamin D,tightly regulated by circulating PTH,IGF1,Ca++PO4 and its final product,down-regulated by PKIA,involved in normal bone growth,tissue differentiation and calcium homeostasis
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.7 uM for 25-hydroxyvitamin D3 {ECO:0000269 PubMed:10518789}; KM=1.1 uM for 24,25-dihydroxyvitamin D3 {ECO:0000269 PubMed:10518789}; Vmax=3.9 pmol/min/mg enzyme with 25-hydroxyvitamin D3 as substrate {ECO:0000269 PubMed:10518789}; Vmax=3.2 pmol/min/mg enzyme with 24,25-dihydroxyvitamin D3 as substrate {ECO:0000269 PubMed:10518789};
UniProtKB/Swiss-Prot CatalyticActivity:
Calcidiol + 2 reduced adrenodoxin + 2 H(+) + O(2) = calcitriol + 2 oxidized adrenodoxin + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
Secalciferol + 2 reduced adrenodoxin + 2 H(+) + O(2) = calcitetrol + 2 oxidized adrenodoxin + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.

Enzyme Numbers (IUBMB) for CYP27B1 Gene

Gene Ontology (GO) - Molecular Function for CYP27B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004498 calcidiol 1-monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYP27B1: view
genes like me logo Genes that share phenotypes with CYP27B1: view

Human Phenotype Ontology for CYP27B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP27B1 Gene

MGI Knock Outs for CYP27B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP27B1 Gene

Localization for CYP27B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP27B1 Gene

Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP27B1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CYP27B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15589699
GO:0005739 mitochondrion IEA,TAS 9333115
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CYP27B1: view

Pathways & Interactions for CYP27B1 Gene

genes like me logo Genes that share pathways with CYP27B1: view

UniProtKB/Swiss-Prot O15528-CP27B_HUMAN

  • Pathway: Hormone biosynthesis; cholecalciferol biosynthesis.

Gene Ontology (GO) - Biological Process for CYP27B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006816 calcium ion transport IEA,ISS --
GO:0008285 negative regulation of cell proliferation IDA 16549446
GO:0010956 negative regulation of calcidiol 1-monooxygenase activity IDA 16549446
GO:0010980 positive regulation of vitamin D 24-hydroxylase activity IDA 16549446
genes like me logo Genes that share ontologies with CYP27B1: view

No data available for SIGNOR curated interactions for CYP27B1 Gene

Drugs & Compounds for CYP27B1 Gene

(33) Drugs for CYP27B1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alfacalcidol Approved Nutra Target Bone resorption inhibitor, Prodrug of vitamin D3 (Cat. No. 4156) 61
Calcidiol Approved Nutra Enzyme, substrate 0
Ergocalciferol Approved Nutra Enzyme, substrate 1281
Oxygen Approved, Vet_approved Pharma 0
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 210

(23) Additional Compounds for CYP27B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with CYP27B1: view

Transcripts for CYP27B1 Gene

Unigene Clusters for CYP27B1 Gene

Cytochrome P450, family 27, subfamily B, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP27B1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: -
SP3: -
SP4:

Relevant External Links for CYP27B1 Gene

GeneLoc Exon Structure for
CYP27B1
ECgene alternative splicing isoforms for
CYP27B1

Expression for CYP27B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP27B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP27B1 Gene

This gene is overexpressed in Kidney - Cortex (x29.5).

Protein differential expression in normal tissues from HIPED for CYP27B1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP27B1 Gene



Protein tissue co-expression partners for CYP27B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP27B1 Gene:

CYP27B1

SOURCE GeneReport for Unigene cluster for CYP27B1 Gene:

Hs.524528

mRNA Expression by UniProt/SwissProt for CYP27B1 Gene:

O15528-CP27B_HUMAN
Tissue specificity: Kidney.

Evidence on tissue expression from TISSUES for CYP27B1 Gene

  • Kidney(4.7)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP27B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CYP27B1: view

Primer Products

Orthologs for CYP27B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP27B1 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia CYP27B1 34 35
  • 87.34 (n)
cow
(Bos Taurus)
Mammalia CYP27B1 34 35
  • 87.18 (n)
mouse
(Mus musculus)
Mammalia Cyp27b1 34 16 35
  • 81.26 (n)
rat
(Rattus norvegicus)
Mammalia Cyp27b1 34
  • 80.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP27B1 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 41 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CYP27B1 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp27b1 34
  • 58.62 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793309 34
  • 61.37 (n)
CYP27B1 35
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a1 36
  • 30 (a)
Cyp12e1 36
  • 29 (a)
Cyp301a1 36
  • 28 (a)
dib 36
  • 27 (a)
Cyp12c1 36
  • 26 (a)
Cyp12d1 36
  • 26 (a)
Cyp12a4 36
  • 25 (a)
Cyp12a5 36
  • 25 (a)
Cyp12b2 36
  • 25 (a)
sad 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ccp-44 36
  • 27 (a)
Species where no ortholog for CYP27B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP27B1 Gene

ENSEMBL:
Gene Tree for CYP27B1 (if available)
TreeFam:
Gene Tree for CYP27B1 (if available)

Paralogs for CYP27B1 Gene

Paralogs for CYP27B1 Gene

(9) SIMAP similar genes for CYP27B1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CYP27B1: view

Variants for CYP27B1 Gene

Sequence variations from dbSNP and Humsavar for CYP27B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs118204007 Pathogenic, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,764,755(-) GGACA(C/G)GGTGA reference, missense
rs118204008 Pathogenic, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,763,798(-) GGTCA(C/T)TCTGT reference, missense
rs118204009 Pathogenic, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,764,147(-) TTCTC(A/G)TGTCC reference, missense
rs118204010 Pathogenic, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700], Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,764,148(-) ATTCT(C/G/T)GTGTC reference, missense
rs118204011 Pathogenic, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,764,487(-) CAGCA(C/T)TCCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP27B1 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559045 CNV loss 21841781
nsv826384 CNV gain 20364138

Variation tolerance for CYP27B1 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP27B1 Gene

Human Gene Mutation Database (HGMD)
CYP27B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP27B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27B1 Gene

Disorders for CYP27B1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CYP27B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vitamin d-dependent rickets, type i
  • vitamin d-dependent rickets type i
hypocalcemic vitamin d-dependent rickets
  • 1-alpha-hydroxylase deficiency
rickets
  • active rickets
vitamin d-dependent rickets type ii
  • rickets-alopecia syndrome
rickets, vitamin d-resistant, type iia
  • hypocalcemic vitamin d-resistant rickets
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP27B_HUMAN
  • Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. {ECO:0000269 PubMed:10320521, ECO:0000269 PubMed:10566658, ECO:0000269 PubMed:12050193, ECO:0000269 PubMed:9486994, ECO:0000269 PubMed:9837822}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP27B1

Genetic Association Database (GAD)
CYP27B1
Human Genome Epidemiology (HuGE) Navigator
CYP27B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP27B1
genes like me logo Genes that share disorders with CYP27B1: view

No data available for Genatlas for CYP27B1 Gene

Publications for CYP27B1 Gene

  1. Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase. (PMID: 9344864) Monkawa T. … Saruta T. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 22 64
  2. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J. … Hayes R.B. (Carcinogenesis 2009) 3 22 46 64
  3. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PMID: 19505920) Beuten J. … Leach R.J. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
  4. Asthma and genes encoding components of the vitamin D pathway. (PMID: 19852851) BossAc Y. … Laprise C. (Respir. Res. 2009) 3 22 46 64
  5. Plasma 1,25 dihydroxy vitamin D3 level and expression of vitamin d receptor and cathelicidin in pulmonary tuberculosis. (PMID: 19219539) Selvaraj P. … Alagarasu K. (J. Clin. Immunol. 2009) 3 22 46 64

Products for CYP27B1 Gene

Sources for CYP27B1 Gene

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