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CYP4F22 H436D [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602276
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 4F22, CP4FN_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP4F22 causes ARCI5 (Homo sapiens)
Defective CYP4F22 does not 20-hydroxylate TrXA3 (Homo sapiens)
CYP4F22 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP4F22 H436D [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6NT55 CYP4F22
Gene Names
CYP4F22
Chain
chain:1-531
Reference Genes
BioGPS Gene:126410 CYP4F22
COSMIC (genes):CYP4F22 CYP4F22
CTD Gene:126410 CYP4F22
dbSNP Gene:126410 CYP4F22
ENSEMBL:ENSG00000171954 CYP4F22
HGNC:26820 CYP4F22
Monarch:126410 CYP4F22
NCBI Gene:126410 CYP4F22
OMIM:611495 CYP4F22
UCSC:Q6NT55 CYP4F22
Reference Transcript
RefSeq:XM_011527692.2 CYP4F22
RefSeq:NM_173483.3 CYP4F22
RefSeq:XM_011527693.2 CYP4F22
Other Identifiers
11733532_at
11733533_at
126410
16859117
244692_PM_at
244692_at
3823211
3823215
3823217
3823218
3823219
3823220
3823221
3823222
3823223
3823225
3823227
3823228
3823229
3823231
3823232
3823233
8026424
91481_at
GE85609
GO:0003824
GO:0004497
GO:0005506
GO:0005515
GO:0005783
GO:0005789
GO:0006629
GO:0006690
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0043226
GO:0046513
GO:0046872
HMNXSV003000467
Hs.156452.0.A1_3p_at
ILMN_1708303
PH_hs_0009443
TC19000272.hg
Participates
as a member of
CYP4F22 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
CYP4F22 R243H [endoplasmic reticulum membrane]
CYP4F22 H435Y [endoplasmic reticulum membrane]
CYP4F22 W521* [endoplasmic reticulum membrane]
CYP4F22 [endoplasmic reticulum membrane]
Modified Residues
Name
L-histidine 436 replaced with L-aspartic acid
Coordinate
436
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
Disease
Name
Identifier
Synonyms
autosomal recessive congenital ichthyosis
DOID:0060655
lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
Cross References
Guide to Pharmacology - Targets
1349
ENSEMBL
ENST00000601005
,
ENST00000269703
,
ENSP00000469866
,
ENSP00000269703
OpenTargets
ENSG00000171954
IntEnz
1.14.14.177
HPA
ENSG00000171954-CYP4F22
PRO
Q6NT55
Pharos - Targets
Q6NT55
Orphanet
CYP4F22
HMDB Protein
HMDBP08640
Interactors (4)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q96MV1 TLCD4
0.556
3
UniProt:Q9BRK0 REEP2
0.556
3
UniProt:Q13520 AQP6
1
AQP6 [transport vesicle membrane]
(R-HSA-431741)
0.556
3
UniProt:Q15800 MSMO1
1
MSMO1 [endoplasmic reticulum membrane]
(R-HSA-194648)
0.556
3
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