CYP2U1 E380G [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5602212
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 2U1, CP2U1_HUMAN
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q7Z449 CYP2U1
Gene Names
CYP2U1
Chain
chain:1-544
Reference Genes
BioGPS Gene:113612 CYP2U1
COSMIC (genes):CYP2U1 CYP2U1
CTD Gene:113612 CYP2U1
dbSNP Gene:113612 CYP2U1
ENSEMBL:ENSG00000155016 CYP2U1
HGNC:20582 CYP2U1
Monarch:113612 CYP2U1
NCBI Gene:113612 CYP2U1
OMIM:610670 CYP2U1
UCSC:Q7Z449 CYP2U1
Reference Transcript
Other Identifiers
113612
11723778_at
11723779_a_at
11745402_a_at
11758384_s_at
11762709_at
11763839_a_at
1554853_PM_at
1554853_at
16969578
226393_PM_at
226393_at
226402_PM_at
226402_at
2738698
2738699
2738700
2738701
2738703
2738706
2738707
2738708
2738711
2738712
2738713
2738714
2738715
2738716
2738717
2738718
2738719
48103_at
52893_at
8096744
84679_at
A_14_P103657
A_23_P155835
A_23_P155837
A_24_P913156
A_33_P3252605
GE566903
GE88534
GO:0003824
GO:0004497
GO:0005506
GO:0005737
GO:0005739
GO:0005743
GO:0005783
GO:0005789
GO:0006082
GO:0006629
GO:0006805
GO:0008395
GO:0016491
GO:0016705
GO:0016712
GO:0019369
GO:0020037
GO:0043226
GO:0043231
GO:0046872
GO:0052869
GO:0097267
GO:0102033
GO:1903604
HMNXSV003015899
Hs.109087.0.S1_3p_at
Hs.109087.0.S2_3p_at
Hs2.170611.1.S1_3p_at
ILMN_1790008
ILMN_2097259
PH_hs_0027765
TC04000555.hg
Participates
as a member of
Other forms of this molecule
CYP2U1 D316V [endoplasmic reticulum membrane]
CYP2U1 C262R [endoplasmic reticulum membrane]
CYP2U1 R488W [endoplasmic reticulum membrane]
CYP2U1 L21Wfs*19 [endoplasmic reticulum membrane]
CYP2U1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-glutamic acid 380 replaced with glycine
Coordinate
380
PsiMod
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
hereditary spastic paraplegia DOID:2476 Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
IntEnz
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
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