CYP2U1 L21Wfs*19 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5602240
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cytochrome P450 2U1, CP2U1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CYP2U1
Chain
chain:1-544
Reference Transcript
Other Identifiers
0006660095
00071+1.14.14.1
00140+1.14.14.1
00232+1.14.14.1
00380+1.14.14.1
00590+1.14.14.1
00591+1.14.14.1
00627+1.14.14.1
00830+1.14.14.1
00980+1.14.14.1
00982+1.14.14.1
113612
11723778_at
11723779_a_at
11745402_a_at
11758384_s_at
11763839_a_at
16969578
226393_at
226402_at
2738699
2738700
2738701
2738706
2738707
2738708
2738711
2738712
2738713
2738714
2738715
2738716
2738717
2738718
41622
46754
48103_at
52893_at
64827
8096744
84679_at
A_14_P103657
A_23_P155835
A_23_P155837
A_33_P3252605
AAH12027
AAI32768
AAI36484
AAQ21380
AY343323
BC012027
BC132767
BC136483
CCDS34047
CH471057
CYP2U1
CYP2U1-201
E9PGH5
EAX06216
ENSG00000155016
ENSP00000333212
ENST00000332884
ENST00000332884.10
EntrezGene:113612
GE88534
GO:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005737
GO:0005783
GO:0005789
GO:0006082
GO:0006629
GO:0006805
GO:0008395
GO:0009056
GO:0016020
GO:0016021
GO:0016491
GO:0016705
GO:0016712
GO:0020037
GO:0031090
GO:0042738
GO:0043167
GO:0043226
GO:0043231
GO:0044281
GO:0046872
GO:0055114
GO:0070330
GO:0097267
HGNC:20582
HPA041622
HPA046754
HPA064827
Hs.109087.0.S1_3p_at
Hs.109087.0.S2_3p_at
ILMN_1790008
ILMN_2097259
IPR001128
IPR002401
IPR008069
IPR017972
IPR036396
MIM:610670
MIM:615030
NM_183075
NP_898898
PF00067
PH_hs_0027765
PR00385
PR00463
PR01686
TC04000555.hg
UPI0000044231
XM_005262717
XM_005262720
XP_005262774
XP_005262777
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 21 to 38 by WGCCGWTPAGARCCYAAS
Disease
Name Identifier Synonyms
hereditary spastic paraplegia 2476 Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein