ENSG00000036530


Homo sapiens

Features
Gene ID: ENSG00000036530
  
Biological name :CYP46A1
  
Synonyms : CYP46A1 / cytochrome P450 family 46 subfamily A member 1 / Q9Y6A2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.2
Gene start: 99684304
Gene end: 99727301
  
Corresponding Affymetrix probe sets: 220331_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369577
Ensembl peptide - ENSP00000451602
Ensembl peptide - ENSP00000452151
Ensembl peptide - ENSP00000261835
Ensembl peptide - ENSP00000451069
NCBI entrez gene - 10858     See in Manteia.
OMIM - 604087
RefSeq - XM_017020933
RefSeq - NM_006668
RefSeq - XM_005267274
RefSeq - XM_011536364
RefSeq - XM_011536365
RefSeq Peptide - NP_006659
swissprot - Q9Y6A2
swissprot - H0YJI0
swissprot - H0YJU5
swissprot - G3V366
Ensembl - ENSG00000036530
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cyp46a1.1ENSDARG00000093477Danio rerio
 cyp46a1.1ENSDARG00000012137Danio rerio
 cyp46a1.2ENSDARG00000004262Danio rerio
 cyp46a1.3ENSDARG00000089177Danio rerio
 cyp46a1.4ENSDARG00000113820Danio rerio
 CYP46A1ENSGALG00000011162Gallus gallus
 Q9WVK8ENSMUSG00000021259Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CYP3A5 / P20815 / cytochrome P450 family 3 subfamily A member 5ENSG0000010625824
CYP3A4 / P08684 / cytochrome P450 family 3 subfamily A member 4ENSG0000016086824
CYP3A7 / P24462 / cytochrome P450 family 3 subfamily A member 7ENSG0000016087023
P24462 / CYP3A7-CYP3A51P / CYP3A7-CYP3A51P readthroughENSG0000028230123
Q9HB55 / CYP3A43 / cytochrome P450 family 3 subfamily A member 43ENSG0000002146122
P24557 / TBXAS1 / thromboxane A synthase 1ENSG0000005937722
O15528 / CYP27B1 / cytochrome P450 family 27 subfamily B member 1ENSG0000011101221
Q02318 / CYP27A1 / cytochrome P450 family 27 subfamily A member 1ENSG0000013592921
Q07973 / CYP24A1 / cytochrome P450 family 24 subfamily A member 1ENSG0000001918620
P15538 / CYP11B1 / cytochrome P450 family 11 subfamily B member 1ENSG0000016088219
P05108 / CYP11A1 / cytochrome P450 family 11 subfamily A member 1ENSG0000014045918
P19099 / CYP11B2 / cytochrome P450 family 11 subfamily B member 2ENSG0000017914218
Q4G0S4 / CYP27C1 / cytochrome P450 family 27 subfamily C member 1ENSG0000018668416


Protein motifs (from Interpro)
Interpro ID Name
 IPR001128  Cytochrome P450
 IPR002401  Cytochrome P450, E-class, group I
 IPR017972  Cytochrome P450, conserved site
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006699 bile acid biosynthetic process TAS
 biological_processGO:0006707 cholesterol catabolic process TAS
 biological_processGO:0006805 xenobiotic metabolic process IDA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0016125 sterol metabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008395 steroid hydroxylase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0033781 cholesterol 24-hydroxylase activity TAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Endogenous sterols


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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