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CYP26C1 R478H [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602077
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 Focal facial dermal dysplasia 4 (FFDD4) (Homo sapiens)
Defective CYP26C1 does not 4-hydroxylate 9cRA (Homo sapiens)
CYP26C1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP26C1 R478H [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
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
0006840563
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:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005789
GO:0006629
GO:0006766
GO:0007165
GO:0007417
GO:0008150
GO:0008289
GO:0008401
GO:0009056
GO:0009952
GO:0014032
GO:0016020
GO:0016021
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0030154
GO:0034653
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0048284
GO:0048387
GO:0048856
GO:0055114
ILMN_1702769
PH_hs_0024123
PH_hs_0036706
TC10000662.hg
Participant Of
hasMember
CYP26C1 mutants [endoplasmic reticulum membrane]
Other forms of this molecule
CYP26C1 Q284Hfs*129 [endoplasmic reticulum membrane]
CYP26C1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 478 replaced with L-histidine
Coordinate
478
PsiMod
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
skin benign neoplasm
3165
neoplasm of skin (disorder), tumor of the skin, neoplasm of skin by site, skin neoplasm
Cross References
RefSeq
NP_899230.2
OpenTargets
ENSG00000187553
GeneCards
Q6V0L0
HPA
ENSG00000187553-CYP26C1
Ensembl
ENSG00000187553
,
ENST00000651965
,
ENSP00000498424
PRO
Q6V0L0
Orphanet
21704
HMDB Protein
HMDBP08637
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