| Entry |
|
| Gene name |
CYP2R1
|
| Definition |
cytochrome P450, family 2, subfamily R, polypeptide 1 (EC:1.14.13.159)
|
| Orthology |
| cytochrome P450, family 2, subfamily R, polypeptide 1 (vitamin D 25-hydroxylase) [EC: 1.14.13.159] |
|
| Organism |
|
| Pathway |
| Steroid biosynthesis | | Metabolic pathways |
|
| Module |
| Cholecalciferol biosynthesis |
|
| Disease |
| Vitamin D-dependent rickets |
|
| Class |
Metabolism; Lipid metabolism; Steroid biosynthesis [PATH: hsa00100]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
11p15.2
|
| AA seq |
501 aa  
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSE
LPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTK
MGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFK
QLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPF
GKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENL
IFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPY
TEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVF
HPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPD
LKPRLGMTLQPQPYLICAERR |
| NT seq |
1506 nt  +upstreamnt +downstreamnt
atgtggaagctttggagagctgaagagggcgcggcggcgctcggcggcgcgctcttcctg
ctgctcttcgcgctaggggtccgccagctgctgaagcagaggcggccgatgggcttcccc
ccggggccgccggggctgccatttatcggcaacatctattccctggcagcctcatccgag
cttccccatgtctacatgagaaagcagagccaggtgtacggagagatcttcagtttagat
cttggaggcatatcaactgtggttctaaatggctatgatgtagtaaaggaatgccttgtt
catcaaagcgaaatttttgcagacagaccatgccttcctttattcatgaagatgacaaaa
atgggaggcttactcaattccagatatggccgaggatgggttgatcacagacgattagct
gtaaacagttttcgatattttggatatggccaaaagtcttttgaatctaaaatcttggaa
gaaaccaaatttttcaatgatgctattgaaacatacaaaggtagaccttttgactttaaa
cagttaataacgaatgctgtttcaaacataaccaatctgatcatttttggagaacgattc
acttatgaagacaccgattttcagcacatgattgagttatttagtgaaaatgtggaacta
gctgccagtgcctcagtcttcttgtataatgcctttccatggattggcatcctgcctttt
ggaaaacatcaacagctgtttagaaatgcagctgtagtctatgattttctctccagactc
attgaaaaagcttcagtcaacagaaagcctcagctacctcagcattttgttgatgcttat
ttagatgagatggatcaaggtaaaaatgacccatcatctactttctccaaagaaaaccta
attttctcagtgggtgaactcatcattgctggaactgaaactacaaccaatgtgctacgg
tgggcgattcttttcatggccctttatcctaatattcaaggacaagttcagaaagagatt
gatttaattatgggccctaatgggaagccttcttgggacgacaaatgcaaaatgccttat
actgaggcagttttgcatgaagttttaagattctgtaatatagttccattagggattttc
catgcaacctctgaagatgcagttgtacgtggttattccattcctaaaggcacaacagta
attacaaatctttattctgtacactttgatgaaaagtactggagagacccagaagtgttc
catcctgagcgatttctggacagcagtggatattttgccaagaaggaagctttggttcct
ttttccctaggaagaagacattgtcttggagaacacttggctcggatggaaatgttcttg
ttttttacagcattgcttcagaggtttcatttgcattttccacatgaactagttccagat
ctgaagcccaggttaggcatgacattgcagccccaaccctacctcatctgtgctgaaaga
cgctga |