KEGG H.sapiens: 1593

Homo sapiens (human): 1593

Entry

1593 CDS H.sapiens

Gene name CYP27A1

Definition cytochrome P450, family 27, subfamily A, polypeptide 1
(EC:1.14.13.15)

Orthology K00488 cytochrome P450, family 27, subfamily A (cholestanetriol
26-monooxygenase) [EC:1.14.13.15]

Pathway hsa00120 Primary bile acid biosynthesis
hsa01100 Metabolic pathways
hsa03320 PPAR signaling pathway

Disease H00151 Cerebrotendinous xanthomatosis

Class Metabolism; Lipid Metabolism; Primary bile acid biosynthesis
[PATH:hsa00120]
Metabolism; Enzyme Families; Cytochrome P450
Organismal Systems; Endocrine System; PPAR signaling pathway
[PATH:hsa03320]

SSDB

Motif Pfam: p450
PROSITE: CYTOCHROME_P450

Other DBs NCBI-GI: 4503211
NCBI-GeneID: 1593
OMIM: 606530
HGNC: 2605
HPRD: 05939
Ensembl: ENSG00000135929
UniProt: Q02318

Position 2q33-qter

AA seq 531 aa
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEI
PRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQ
EGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNE
VIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAA
GPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEA
LHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK
NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC

NT seq 1596 nt +upstreamnt +downstreamnt
atggctgcgctgggctgcgcgaggctgaggtgggcgctgcgaggggccggccgtggcctc
tgcccccacggggccagagccaaggccgcgatccctgccgccctcccctcggacaaggcc
accggagctcccggagccgggcctggtgtccggcggcggcaacggagcttagaggagatt
ccacgtctaggacagctgcgcttcttctttcagctgttcgttcaaggctatgccctgcaa
ctgcaccagttacaggtgctttacaaggccaagtacggtccaatgtggatgtcctactta
gggcctcagatgcacgtgaacctggccagtgccccgctcttggagcaagtgatgcggcaa
gagggcaagtacccagtacggaacgacatggagctatggaaggagcaccgggaccagcac
gacctgacctatgggccgttcaccacggaaggacaccactggtaccagctgcgccaggct
ctgaaccagcggttgctgaagccagcggaagcagcgctctatacggatgctttcaatgag
gtgattgatgactttatgactcgactggaccagctgcgggcagagagtgcttcggggaac
caggtgtcggacatggctcaactcttctactactttgccttggaagctatttgctacatc
ctgttcgagaaacgcattggctgcctgcagcgatccatccccgaggacaccgtgaccttc
gtcagatccatcgggttaatgttccagaactcactctatgccaccttcctccccaagtgg
actcgccccgtgctgcctttctggaagcgatacctggatggttggaatgccatcttttcc
tttgggaagaagctgattgatgagaagctcgaagatatggaggcccaactgcaggcagca
gggccagatggcatccaggtgtctggctacctgcacttcttactggccagtggacagctc
agtcctcgggaggccatgggcagcctgcctgagctgctcatggctggagtggacacgaca
tccaacacgctgacatgggccctgtaccacctctcaaaggaccctgagatccaggaggcc
ttgcacgaggaagtggtgggtgtggtgccagccgggcaagtgccccagcacaaggacttt
gcccacatgccgttgctcaaagctgtgcttaaggagactctgcgtctctaccctgtggtc
cccacaaactcccggatcatagaaaaggaaattgaagttgatggcttcctcttccccaag
aacacccagtttgtgttctgccactatgtggtgtcccgggaccccactgccttctctgag
cctgaaagcttccagccccaccgctggctgagaaacagccagcctgctacccccaggatc
cagcacccatttggctctgtgccctttggctatggggtccgggcctgcctgggccgcagg
attgcagagctggagatgcagctactcctcgcaaggctgatccagaagtacaaggtggtc
ctggccccggagacgggggagttgaagagtgtggcccgcattgtcctggttcccaataag
aaagtgggcctgcagttcctgcagagacagtgctga

All links

Pathway (3)   
   KEGG PATHWAY (3)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (5)   
   UniProt (1)   
   RefSeq(pep) (1)   
   IPI (3)   
DNA sequence (7)   
   RefSeq(nuc) (1)   
   GenBank (3)   
   EMBL (3)   
Protein domain (2)   
   Pfam (1)   
   PROSITE (1)   
All databases (32)

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