• Gene id: 1594

Gene Summary

• Gene Symbol: CYP27B1   Gene   UCSC   Ensembl
• Aliases: CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
• Gene name: cytochrome P450 family 27 subfamily B member 1
• Alternate names: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial, 1alpha(OH)ase, 25 hydroxyvitamin D3-1-alpha hydroxylase, 25-OHD-1 alpha-hydroxylase, VD3 1A hydroxylase, calcidiol 1-monooxygenase, cytochrome P450 subfamily XXVIIB polypeptide 1, cytochrome P450, family 27,
• Gene location: 12q14.1 (57767077: 57762333)     Exons: 9     NC_000012.12
• Gene summary(Entrez): 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 encode
• OMIM: 609506

Protein Summary

• Protein general information: O15528  
  • Name: 25 hydroxyvitamin D 1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25 OHD 1 alpha hydroxylase) (25 hydroxyvitamin D(3) 1 alpha hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1 monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome
  • Length: 508  
  • Mass: 56504
  • Tissue specificity: Kidney. {ECO
• Sequence:

  MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPV
  WLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQA
  AARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAV
  GSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
  ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVK
  EVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGF
  GKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000228606
• Other Databases: GeneCards:  CYP27B1  Malacards:  CYP27B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0004498	calcidiol 1-monooxygenase activity	IBA	molecular function
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0042369	vitamin D catabolic process	IBA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IBA	biological process
GO:0033280	response to vitamin D	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004498	calcidiol 1-monooxygenase activity	IDA	molecular function
GO:0062185	secalciferol 1-monooxygenase activity	IDA	molecular function
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004498	calcidiol 1-monooxygenase activity	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0004498	calcidiol 1-monooxygenase activity	TAS	molecular function
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0004498	calcidiol 1-monooxygenase activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IEA	biological process
GO:0042369	vitamin D catabolic process	IEA	biological process
GO:0004498	calcidiol 1-monooxygenase activity	IDA	molecular function
GO:0004498	calcidiol 1-monooxygenase activity	IDA	molecular function
GO:0004498	calcidiol 1-monooxygenase activity	IDA	molecular function
GO:0004498	calcidiol 1-monooxygenase activity	IDA	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity	IDA	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0042359	vitamin D metabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010956	negative regulation of calcidiol 1-monooxygenase activity	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0033280	response to vitamin D	IDA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0070564	positive regulation of vitamin D receptor signaling pathway	IDA	biological process
GO:0006816	calcium ion transport	ISS	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0043627	response to estrogen	IEP	biological process
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:0070314	G1 to G0 transition	IMP	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0030282	bone mineralization	IEP	biological process
GO:0030500	regulation of bone mineralization	IMP	biological process
GO:0046697	decidualization	IEP	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0042368	vitamin D biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05152	Tuberculosis
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Vitamin D-dependent rickets	KEGG:H01143
Type 1 diabetes mellitus	KEGG:H00408
Vitamin D-dependent rickets	KEGG:H01143
Rickets	PMID:9486994
type 1 diabetes mellitus	PMID:17606874
type 1 diabetes mellitus	PMID:17223345
obesity	PMID:17223345
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)