| 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 |
| negative regulation of cell growth |
| vitamin D catabolic process |
| negative regulation of cell proliferation |
| bone mineralization |
| response to estrogen stimulus |
| calcium ion homeostasis |
| 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 |
| 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 |
| vitamin D biosynthetic process |
| response to lipopolysaccharide |
| Cellular Component |
| mitochondrial outer membrane |
| Function |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| transition metal ion binding |
| electron carrier activity |
| iron ion binding |
| monooxygenase activity |
| heme binding |
| oxidoreductase activity |
| Molecular Function |
| iron ion binding |
| calcidiol 1-monooxygenase activity |
| heme binding |
| electron carrier activity |
| 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 |