Gene/Proteome Database (LMPD)

LMPD ID
LMP000490
Gene ID
1594
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 27, subfamily B, polypeptide 1
Gene Symbol
CYP27B1
Synonyms
CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Alternate Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 1alpha(OH)ase; VD3 1A hydroxylase; cytochrome p450 27B1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; calcidiol 1-monooxygenase; 25-OHD-1 alpha-hydroxylase; 25 hydroxyvitamin D3-1-alpha hydroxylase; cytochrome P450 subfamily XXVIIB polypeptide 1
Chromosome
12
Map Location
12q14.1
EC Number
1.14.13.13
Summary
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]
Orthologs
View orthologs and multiple alignments for CYP27B1

Proteins

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Refseq ID NP_000776
Protein GI 4503213
UniProt ID O15528
mRNA ID NM_000785
Length 508
RefSeq Status REVIEWED
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR

Gene Information

Entrez Gene ID
1594
Gene Name
cytochrome P450, family 27, subfamily B, polypeptide 1
Gene Symbol
CYP27B1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:BHF-UCL C cytoplasm
GO:0005741 TAS:Reactome C mitochondrial outer membrane
GO:0005739 ISS:BHF-UCL C mitochondrion
GO:0004498 IDA:BHF-UCL F calcidiol 1-monooxygenase activity
GO:0020037 IEA:InterPro F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0070314 IMP:BHF-UCL P G1 to G0 transition
GO:0030282 IEP:BHF-UCL P bone mineralization
GO:0036378 IDA:BHF-UCL P calcitriol biosynthetic process from calciol
GO:0055074 IMP:BHF-UCL P calcium ion homeostasis
GO:0006816 ISS:BHF-UCL P calcium ion transport
GO:0046697 IEP:BHF-UCL P decidualization
GO:0010956 IDA:BHF-UCL P negative regulation of calcidiol 1-monooxygenase activity
GO:0030308 IMP:BHF-UCL P negative regulation of cell growth
GO:0008285 IDA:BHF-UCL P negative regulation of cell proliferation
GO:0045618 IMP:BHF-UCL P positive regulation of keratinocyte differentiation
GO:0010980 IDA:BHF-UCL P positive regulation of vitamin D 24-hydroxylase activity
GO:0070564 IDA:BHF-UCL P positive regulation of vitamin D receptor signaling pathway
GO:0030500 IMP:BHF-UCL P regulation of bone mineralization
GO:0043627 IEP:BHF-UCL P response to estrogen
GO:0034341 IDA:BHF-UCL P response to interferon-gamma
GO:0032496 IDA:BHF-UCL P response to lipopolysaccharide
GO:0033280 IDA:BHF-UCL P response to vitamin D
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:Reactome P steroid metabolic process
GO:0042369 IEA:Ensembl P vitamin D catabolic process
GO:0042359 IDA:BHF-UCL P vitamin D metabolic process
GO:0006766 TAS:Reactome P vitamin metabolic process
GO:0006805 TAS:Reactome P xenobiotic metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa05152 Tuberculosis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-6076 1,25-dihydroxyvitamin D3 biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR017972 Cytochrome P450, conserved site

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 27, subfamily B, polypeptide 1
Protein Entry
CP27B_HUMAN
UniProt ID
O15528
Species
Human

Comments

Comment Type Description
Catalytic Activity Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.
Cofactor Name=heme; Xref=ChEBI
Disease Rickets vitamin D-dependent 1A (VDDR1A) [MIM
Function Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.
Pathway Hormone biosynthesis; cholecalciferol biosynthesis.
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Mitochondrion membrane.
Tissue Specificity Kidney.
Web Resource Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp27b1/";

Identical and Related Proteins

Unique RefSeq proteins for LMP000490 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4503213 RefSeq NP_000776 508 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Identical Sequences to LMP000490 proteins

Reference Database Accession Length Protein Name
GI:4503213 EMBL CAC39907.1 508 unnamed protein product [Homo sapiens]
GI:4503213 GenBank AAE79371.1 508 Sequence 2 from patent US 6274359
GI:4503213 GenBank AAP31972.1 508 cytochrome P450, family 27, subfamily B, polypeptide 1 [Homo sapiens]
GI:4503213 GenBank EAW97067.1 508 hCG2044066 [Homo sapiens]
GI:4503213 GenBank AAI36387.1 508 Cytochrome P450, family 27, subfamily B, polypeptide 1 [Homo sapiens]
GI:4503213 GenBank ACM80496.1 508 Sequence 5994 from patent US 6812339

Related Sequences to LMP000490 proteins

Reference Database Accession Length Protein Name
GI:4503213 DBBJ BAG37458.1 508 unnamed protein product [Homo sapiens]
GI:4503213 GenBank ACM84968.1 523 Sequence 10466 from patent US 6812339
GI:4503213 RefSeq XP_509175.2 508 PREDICTED: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial [Pan troglodytes]
GI:4503213 RefSeq XP_002823487.1 508 PREDICTED: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial [Pongo abelii]
GI:4503213 RefSeq XP_003824880.1 508 PREDICTED: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial [Pan paniscus]
GI:4503213 RefSeq XP_004053505.1 508 PREDICTED: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial-like [Gorilla gorilla gorilla]