KEGG   Homo sapiens (human): 1594Help
Entry
1594              CDS       T01001                                 

Gene name
CYP27B1, CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
Definition
(RefSeq) cytochrome P450 family 27 subfamily B member 1
  KO
K07438  calcidiol 1-monooxygenase (25-hydroxyvitamin D3 1alpha-hydroxylase) [EC:1.14.15.18]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa05152  Tuberculosis
Module
hsa_M00103  Cholecalciferol biosynthesis
Disease
H00408  Type 1 diabetes mellitus
H01143  Vitamin D-dependent rickets
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    1594 (CYP27B1)
 09150 Organismal Systems
  09152 Endocrine system
   04928 Parathyroid hormone synthesis, secretion and action
    1594 (CYP27B1)
 09160 Human Diseases
  09171 Infectious diseases: Bacterial
   05152 Tuberculosis
    1594 (CYP27B1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   00199 Cytochrome P450 [BR:hsa00199]
    1594 (CYP27B1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.15  With reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.15.18  calcidiol 1-monooxygenase
     1594 (CYP27B1)
Cytochrome P450 [BR:hsa00199]
 Cytochrome P450, animal type
  CYP27 family
   1594 (CYP27B1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: p450
Motif
Other DBs
NCBI-GeneID: 1594
NCBI-ProteinID: NP_000776
OMIM: 609506
HGNC: 2606
Ensembl: ENSG00000111012
Vega: OTTHUMG00000170457
Pharos: O15528(Tchem)
UniProt: O15528
Position
12q14.1
AA seq 508 aa AA seqDB search
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR
LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR
QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP
ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS
ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR
NT seq 1527 nt NT seq  +upstreamnt  +downstreamnt
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

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