Identification |
HMDB Protein ID
| CDBP00979 |
Secondary Accession Numbers
| Not Available |
Name
| 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
Description
| Not Available |
Synonyms
|
- 25-OHD-1 alpha-hydroxylase
- 25-hydroxyvitamin D(3) 1-alpha-hydroxylase
- Calcidiol 1-monooxygenase
- Cytochrome P450 subfamily XXVIIB polypeptide 1
- Cytochrome P450C1 alpha
- Cytochrome P450VD1-alpha
- Cytochrome p450 27B1
- 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
|
- Mitochondrion membrane
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | cholecalciferol biosynthesis | Not Available | Not Available | Tuberculosis | Not Available | |
|
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
|
External Links |
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 |