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CYP27A1 A216P [mitochondrial matrix]
Stable Identifier
R-HSA-5602094
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Cytochrome P450 27, CP27_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP27A1 causes CTX (Homo sapiens)
CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol (Homo sapiens)
CYP27A1 mutants [mitochondrial matrix] (Homo sapiens)
CYP27A1 A216P [mitochondrial matrix] (Homo sapiens)
Defective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol (Homo sapiens)
CYP27A1 mutants [mitochondrial matrix] (Homo sapiens)
CYP27A1 A216P [mitochondrial matrix] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q02318 CYP27A1
Gene Names
CYP27A1, CYP27
Chain
transit peptide:1-33, chain:34-531
Reference Genes
BioGPS Gene:1593 CYP27A1
COSMIC (genes):CYP27A1 CYP27A1
CTD Gene:1593 CYP27A1
dbSNP Gene:1593 CYP27A1
ENSEMBL:ENSG00000135929 CYP27A1
ENSEMBL_homo_sapiens_GENE:ENSG00000135929.9 CYP27A1
HGNC:2605 CYP27A1
KEGG Gene (Homo sapiens):1593 CYP27A1
Monarch:1593 CYP27A1
NCBI Gene:1593 CYP27A1
OMIM:606530 CYP27A1
UCSC:Q02318 CYP27A1
Reference Transcript
RefSeq:NM_000784.3 CYP27A1
Other Identifiers
11731430_a_at
1593
16891082
203979_PM_at
203979_at
2528094
2528095
2528096
2528107
2528108
2528110
2528111
2528112
2528113
2528114
2528115
2528116
2528117
2528118
8048432
999_at
A_33_P3361422
GO:0003824
GO:0004497
GO:0005506
GO:0005739
GO:0005743
GO:0005759
GO:0006629
GO:0006694
GO:0006699
GO:0006707
GO:0006766
GO:0008202
GO:0008203
GO:0008395
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0030343
GO:0031073
GO:0036378
GO:0043226
GO:0046872
GO:0047103
GO:0047748
GO:0047749
HMNXSV003001072
ILMN_1704985
PH_hs_0004731
TC02001311.hg
X59812_at
g4503210_3p_at
Participates
as a member of
CYP27A1 mutants [mitochondrial matrix] (Homo sapiens)
Other forms of this molecule
CYP27A1 T339M [mitochondrial matrix]
CYP27A1 R474W [mitochondrial matrix]
CYP27A1 R474Q [mitochondrial matrix]
CYP27A1 [mitochondrial matrix]
Modified Residues
Name
L-alanine 216 replaced with L-proline
Coordinate
216
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
cerebrotendinous xanthomatosis
DOID:4810
cerebrotendinous xanthomatosis, Cholestanol storage disease (disorder)
Cross References
RefSeq
NP_000775.1
Guide to Pharmacology - Targets
1369
OpenTargets
ENSG00000135929
IntEnz
1.14.15.15
HPA
ENSG00000135929-CYP27A1
GeneCards
Q02318
ZINC target
Q02318
Ensembl
ENSG00000135929
,
ENST00000258415
,
ENSP00000258415
PRO
Q02318
Pharos - Targets
Q02318
Orphanet
15840
HMDB Protein
HMDBP01037
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