Identification
HMDB Protein ID CDBP00979
Secondary Accession Numbers Not Available
Name 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Description Not Available
Synonyms
  1. 25-OHD-1 alpha-hydroxylase
  2. 25-hydroxyvitamin D(3) 1-alpha-hydroxylase
  3. Calcidiol 1-monooxygenase
  4. Cytochrome P450 subfamily XXVIIB polypeptide 1
  5. Cytochrome P450C1 alpha
  6. Cytochrome P450VD1-alpha
  7. Cytochrome p450 27B1
  8. VD3 1A hydroxylase
Gene Name CYP27B1
Protein Type Enzyme
Biological Properties
General Function Involved in monooxygenase activity
Specific 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.
GO Classification
Biological Process
positive regulation of vitamin D receptor signaling pathway
xenobiotic metabolic process
regulation of bone mineralization
response to interferon-gamma
response to tumor necrosis factor
response to vitamin D
response to lipopolysaccharide
vitamin D biosynthetic process
vitamin D catabolic process
negative regulation of cell growth
bone mineralization
negative regulation of cell proliferation
calcium ion homeostasis
response to estrogen stimulus
calcium ion transport
decidualization
G1 to G0 transition
negative regulation of calcidiol 1-monooxygenase activity
positive regulation of keratinocyte differentiation
positive regulation of vitamin D 24-hydroxylase activity
Cellular Component
mitochondrial outer membrane
Function
transition metal ion binding
electron carrier activity
iron ion binding
monooxygenase activity
heme binding
oxidoreductase activity
ion binding
cation binding
metal ion binding
binding
catalytic activity
Molecular Function
electron carrier activity
iron ion binding
calcidiol 1-monooxygenase activity
heme binding
Process
metabolic process
oxidation reduction
Cellular Location
  1. Mitochondrion membrane
Pathways
Gene Properties
Chromosome Location 12
Locus 12q13.1-q13.3
SNPs CYP27B1
Gene Sequence
>1527 bp
ATGACCCAGACCCTCAAGTACGCCTCCAGAGTGTTCCATCGCGTCCGCTGGGCGCCCGAG
TTGGGCGCCTCCCTAGGCTACCGAGAGTACCACTCAGCACGCCGGAGCTTGGCAGACATC
CCAGGCCCCTCTACGCCCAGCTTTCTGGCCGAACTTTTCTGCAAGGGGGGGCTGTCGAGG
CTACACGAGCTGCAGGTGCAGGGCGCCGCGCACTTCGGGCCGGTGTGGCTAGCCAGCTTT
GGGACAGTGCGCACCGTGTACGTGGCTGCCCCTGCACTCGTCGAGGAGCTGCTGCGACAG
GAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCCCTGGACGGAGCACCGCCGCTGCCGC
CAGCGGGCTTGCGGACTGCTCACTGCGGAAGGCGAAGAATGGCAAAGGCTCCGCAGTCTC
CTGGCCCCGCTCCTCCTCCGGCCTCAAGCGGCCGCCCGCTACGCCGGAACCCTGAACAAC
GTAGTCTGCGACCTTGTGCGGCGTCTGAGGCGCCAGCGGGGACGTGGCACGGGGCCGCCC
GCCCTGGTTCGGGACGTGGCGGGGGAATTTTACAAGTTCGGACTGGAAGGCATCGCCGCG
GTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAAGTGCCACCCGACACGGAGACC
TTCATCCGCGCTGTGGGCTCGGTGTTTGTGTCCACGCTGTTGACCATGGCGATGCCCCAC
TGGCTGCGCCACCTTGTGCCTGGGCCCTGGGGCCGCCTCTGCCGAGACTGGGACCAGATG
TTTGCATTTGCTCAGAGGCACGTGGAGCGGCGAGAGGCAGAGGCAGCCATGAGGAACGGA
GGACAGCCCGAGAAGGACCTGGAGTCTGGGGCGCACCTGACCCACTTCCTGTTCCGGGAA
GAGTTGCCTGCCCAGTCCATCCTGGGAAATGTGACAGAGTTGCTATTGGCGGGAGTGGAC
ACGGTGTCCAACACGCTCTCTTGGGCTCTGTATGAGCTCTCCCGGCACCCCGAAGTCCAG
ACAGCACTCCACTCAGAGATCACAGCTGCCCTGAGCCCTGGCTCCAGTGCCTACCCCTCA
GCCACTGTTCTGTCCCAGCTGCCCCTGCTGAAGGCGGTGGTCAAGGAAGTGCTAAGACTG
TACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAAGACATTCATGTGGGTGACTAT
ATTATCCCCAAAAATACGCTGGTCACTCTGTGTCACTATGCCACTTCAAGGGACCCTGCC
CAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCC
CACCCATTTGCATCTCTTCCCTTTGGCTTTGGCAAGCGCAGCTGTATGGGGAGACGCCTG
GCAGAGCTTGAATTGCAAATGGCTTTGGCCCAGATCCTAACACATTTTGAGGTGCAGCCT
GAGCCAGGTGCGGCCCCAGTTAGACCCAAGACCCGGACTGTCCTGGTACCTGAAAGGAGC
ATCAACCTACAGTTTTTGGACAGATAG
Protein Properties
Number of Residues 508
Molecular Weight 56503.475
Theoretical pI 9.159
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR
LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR
QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP
ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS
ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID O15528
UniProtKB/Swiss-Prot Entry Name CP27B_HUMAN
PDB IDs Not Available
GenBank Gene ID AB005038
GeneCard ID CYP27B1
GenAtlas ID CYP27B1
HGNC ID HGNC:2606
References
General References Not Available