| Gene ID | 1594 |
| Symbol | CYP27B1 |
| Synonymous | CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR |
| Full name | cytochrome P450, family 27, subfamily B, polypeptide 1 |
| Gene description | 1alpha(OH)ase|25 hydroxyvitamin D3-1-alpha hydroxylase|25-OHD-1 alpha-hydroxylase|25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial|VD3 1A hydroxylase|calcidiol 1-monooxygenase|cytochrome P450 subfamily XXVIIB polypeptide 1|cytochrome P450C1 alpha|cy |
| Cytoband | 12q14.1 |
| Gene type | protein-coding |
| Synonymous | MIM:609506; HGNC:HGNC:2606; Ensembl:ENSG00000111012; HPRD:02031; Vega:OTTHUMG00000170457 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Vitamin D metabolism and pathway;PANTHER;P04396 |
Pathway | Vitamin D (calciferol) metabolism;PID Reactome;500600 |
Pathway | Vitamins;PID Reactome;500202 |
Pathway | 1,25-dihydroxyvitamin D3 biosynthesis;BioCyc;PWY-6076 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Steroid biosynthesis;KEGG PATHWAY;hsa00100 |
Pathway | Biological oxidations;Reactome;REACT:13433 |
Pathway | Metabolism of lipids and lipoproteins;Reactome;REACT:22258 |
Pathway | Metabolism of vitamins and cofactors;Reactome;REACT:11193 |
Pathway | Hormone biosynthesis;Reactome;REACT:15314 |
Disease | Autoimmune disease;FunDO |
Disease | IMMUNE;GAD |
Disease | Metabolic diseases;KEGG DISEASE |
Disease | Diabetes mellitus;FunDO |
Disease | CARDIOVASCULAR;GAD |
Disease | Prostate cancer;FunDO |
Disease | multiple sclerosis;GAD |
Disease | Type I diabetes mellitus;KEGG DISEASE;H00408 |
Disease | Osteoporosis;FunDO |
Disease | Graves' disease;GAD |
Disease | Seminoma;FunDO |
Disease | Vitamin D-dependent rickets, type I;OMIM |
Disease | Lung cancer;FunDO |
Disease | Endometrium cancer;FunDO |
Disease | diabetes, type 1;GAD |
Disease | Heart Failure;GAD |
Disease | thyroiditis, chronic lymphocytic;GAD |
Disease | hypertension;GAD |
Disease | Diabetes;KEGG DISEASE |
Disease | Breast cancer;FunDO |
Disease | Addison's disease;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >1594 : length: 2503 GGGTGCTAATCCCCAGCACAGACCACTCAGGAGGAGGGATTGGCTGAGGAGCTTGGAGAGGGGGCGTCATCACCTCACCCAAAGGTTAAATAGGGGTTGAGATATGATGCTCAGGAGAAG CGCTTTCTTTCGCGAGCACCCTGAACCAGACCATGACCCAGACCCTCAAGTACGCCTCCAGAGTGTTCCATCGCGTCCGCTGGGCGCCCGAGTTGGGCGCCTCCCTAGGCTACCGAGAGT ACCACTCAGCACGCCGGAGCTTGGCAGACATCCCAGGCCCCTCTACGCCCAGCTTTCTGGCCGAACTTTTCTGCAAGGGGGGGCTGTCGAGGCTACACGAGCTGCAGGTGCAGGGCGCCG CGCACTTCGGGCCGGTGTGGCTAGCCAGCTTTGGGACAGTGCGCACCGTGTACGTGGCTGCCCCTGCACTCGTCGAGGAGCTGCTGCGACAGGAGGGACCCCGGCCCGAGCGCTGCAGCT TCTCGCCCTGGACGGAGCACCGCCGCTGCCGCCAGCGGGCTTGCGGACTGCTCACTGCGGAAGGCGAAGAATGGCAAAGGCTCCGCAGTCTCCTGGCCCCGCTCCTCCTCCGGCCTCAAG CGGCCGCCCGCTACGCCGGAACCCTGAACAACGTAGTCTGCGACCTTGTGCGGCGTCTGAGGCGCCAGCGGGGACGTGGCACGGGGCCGCCCGCCCTGGTTCGGGACGTGGCGGGGGAAT TTTACAAGTTCGGACTGGAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAAGTGCCACCCGACACGGAGACCTTCATCCGCGCTGTGGGCTCGGTGTTTG TGTCCACGCTGTTGACCATGGCGATGCCCCACTGGCTGCGCCACCTTGTGCCTGGGCCCTGGGGCCGCCTCTGCCGAGACTGGGACCAGATGTTTGCATTTGCTCAGAGGCACGTGGAGC GGCGAGAGGCAGAGGCAGCCATGAGGAACGGAGGACAGCCCGAGAAGGACCTGGAGTCTGGGGCGCACCTGACCCACTTCCTGTTCCGGGAAGAGTTGCCTGCCCAGTCCATCCTGGGAA ATGTGACAGAGTTGCTATTGGCGGGAGTGGACACGGTGTCCAACACGCTCTCTTGGGCTCTGTATGAGCTCTCCCGGCACCCCGAAGTCCAGACAGCACTCCACTCAGAGATCACAGCTG CCCTGAGCCCTGGCTCCAGTGCCTACCCCTCAGCCACTGTTCTGTCCCAGCTGCCCCTGCTGAAGGCGGTGGTCAAGGAAGTGCTAAGACTGTACCCTGTGGTACCTGGAAATTCTCGTG TCCCAGACAAAGACATTCATGTGGGTGACTATATTATCCCCAAAAATACGCTGGTCACTCTGTGTCACTATGCCACTTCAAGGGACCCTGCCCAGTTCCCAGAGCCAAATTCTTTTCGTC CAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCACCCATTTGCATCTCTTCCCTTTGGCTTTGGCAAGCGCAGCTGTATGGGGAGACGCCTGGCAGAGCTTGAATTGCAAATGGCTTTGG CCCAGATCCTAACACATTTTGAGGTGCAGCCTGAGCCAGGTGCGGCCCCAGTTAGACCCAAGACCCGGACTGTCCTGGTACCTGAAAGGAGCATCAACCTACAGTTTTTGGACAGATAGT CCCATGGAAAGAGACTGTCATCATCACCCTTTCATTCATCATAGGGATAAGATTTTTTGTAGGCACAAGACCAAGGTATACATCTTCCCCTAATGCCTATCTGACCAAACTGGATAGAAC CACCATAGTGAAGTGTGAGGCGGCCCTGACCAATGTGTGAAGTATGCACTTGGCCTGACTCAGGAAGCCAGGTGAGAAAACCATGGTCTCTCTGCTTGCTTGGCCCTTCTGATCATGTAT GCATCCCCCAAGGATGAAATCAGATTTTAACTAATAATGCTGGATGGCCTGAGGAAAGATTCAACTGCCTCTCTTTTTGGGCTTTCATAGTGTTCATTGATGCTGCTGGCTAAGCATTTA TCAAAGCATAAGCTCAGTAACTGTGCATCTGGTCTGTACCTGGTTGGTCCTTCGTCTTTGCATGTAAGCTCTTTGAGAGGAAGGGTGAAGCCTTATTTGTTTTTTATGTCCCCTGCCAGG GCCTGTCTCTGACTAGGTGTCACCATACACATTCTTAGATTGAATCTGAACCATGTGGCAGAAGGGATAAGCAGCTTACTTAGTAGGCTCTGTCTACCCCCTTCCTTCTTTGTCTTGCCC CTAGGAAGGTGAATCTGCCCTAGCCTGGTTTACGGTTTCTTATAACTCTCCTTTGCTCTCTGGCCACTATTAAGTGGGTTTGCCCCATCACTTAGTTCTCAGGCAGAGACATCTTTGGGC CTGTCCCTGCCCAGGCCTCTGGCTTTTTATATTGAAAATTTTTAAATATTCACAAATTTTAGAATAAATCAAATATTCCATTCTTGAAAAAAAAAAAAAAAAA |
Protein Sequence | >1594 : length: 508 MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP EPGAAPVRPKTRTVLVPERSINLQFLDR |