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CYP26C1 Q284Hfs*129 [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602075
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 26C1, CP26C_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP26C1 causes FFDD4 (Homo sapiens)
Defective CYP26C1 does not 4-hydroxylate 9cRA (Homo sapiens)
CYP26C1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP26C1 Q284Hfs*129 [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6V0L0 CYP26C1
Gene Names
CYP26C1
Chain
chain:1-522
Reference Genes
BioGPS Gene:340665 CYP26C1
COSMIC (genes):CYP26C1 CYP26C1
CTD Gene:340665 CYP26C1
dbSNP Gene:340665 CYP26C1
ENSEMBL:ENSG00000187553 CYP26C1
ENSEMBL_homo_sapiens_GENE:ENSG00000187553.10 CYP26C1
HGNC:20577 CYP26C1
KEGG Gene (Homo sapiens):340665 CYP26C1
Monarch:340665 CYP26C1
NCBI Gene:340665 CYP26C1
OMIM:608428 CYP26C1
UCSC:Q6V0L0 CYP26C1
Reference Transcript
RefSeq:NM_183374.2 CYP26C1
Other Identifiers
11738865_a_at
16707534
3258355
3258356
3258358
3258359
3258360
3258362
3258363
3258368
3258371
3258372
3258373
3258375
3258376
3258377
3258378
3258379
3258380
3258381
3258382
340665
7929315
A_33_P3264667
A_33_P3264672
GO:0001972
GO:0003824
GO:0004497
GO:0005506
GO:0005783
GO:0005789
GO:0006629
GO:0006766
GO:0007417
GO:0008289
GO:0008401
GO:0009952
GO:0014032
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0023052
GO:0030154
GO:0034653
GO:0043226
GO:0046872
GO:0048284
GO:0048387
GO:0048856
GO:0070330
HMNXSV003013278
HMNXSV003051049
HMNXSV003057755
ILMN_1702769
PH_hs_0024123
PH_hs_0036706
TC10000662.hg
Participates
as a member of
CYP26C1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
CYP26C1 R478H [endoplasmic reticulum membrane]
CYP26C1 [endoplasmic reticulum membrane]
Modified Residues
Name
Replacement of residues 284 to 411 by HHAGAEGVGCGAPLRRLLHHGQCQHLARPAATAASGGHRQDSGGAGGAGAGARVRLRARGRWGQRGAPARLRLRARPQPRGAGPSALRRLRGQGGAAPPAASVRGLPHRPAHLRARRLPDPQGLERDV
Disease
Name
Identifier
Synonyms
skin benign neoplasm
DOID:3165
neoplasm of skin (disorder), tumor of the skin, neoplasm of skin by site, skin neoplasm
Cross References
RefSeq
NP_899230.2
Guide to Pharmacology - Targets
1368
OpenTargets
ENSG00000187553
GeneCards
Q6V0L0
HPA
ENSG00000187553-CYP26C1
Ensembl
ENSP00000498424
,
ENST00000651965
,
ENSG00000187553
PRO
Q6V0L0
Pharos - Targets
Q6V0L0
Orphanet
21704
HMDB Protein
HMDBP08637
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