CYP7B1 R417H [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5602944
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 7B1, CP7B_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O75881 CYP7B1
Gene Names
CYP7B1
Chain
chain:1-506
Reference Genes
BioGPS Gene:9420 CYP7B1
COSMIC (genes):CYP7B1 CYP7B1
CTD Gene:9420 CYP7B1
dbSNP Gene:9420 CYP7B1
ENSEMBL:ENSG00000172817.4 CYP7B1
HGNC:2652 CYP7B1
KEGG Gene (Homo sapiens):9420 CYP7B1
Monarch:9420 CYP7B1
NCBI Gene:9420 CYP7B1
OMIM:603711 CYP7B1
UCSC:O75881 CYP7B1
Reference Transcript
Other Identifiers
0002480100
11740151_at
17077723
207386_PM_at
207386_at
235438_PM_at
235438_at
3138201
3138203
3138205
3138206
3138207
3138208
3138209
3138211
3138218
3138219
3138220
3138221
3138223
3138246
3138247
3138248
3138249
3138270
33055_at
8151056
82933_at
9420
GE58345
GO:0002376
GO:0004497
GO:0005506
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0006629
GO:0006694
GO:0006699
GO:0008202
GO:0008203
GO:0008395
GO:0008396
GO:0016020
GO:0016021
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0022414
GO:0023052
GO:0030520
GO:0033147
GO:0033782
GO:0033783
GO:0035754
GO:0042632
GO:0043226
GO:0043231
GO:0046872
GO:0047092
GO:0048856
GO:0048870
GO:0050673
GO:0050679
GO:0060740
HMNXSV003025384
Hs.146226.0.A1_3p_at
ILMN_1701661
PH_hs_0008586
TC08001275.hg
g13787190_3p_at
Participates
as a member of
Other forms of this molecule
CYP7B1 Y275* [endoplasmic reticulum membrane]
CYP7B1 T297A [endoplasmic reticulum membrane]
CYP7B1 F216S [endoplasmic reticulum membrane]
CYP7B1 G87V [endoplasmic reticulum membrane]
CYP7B1 F470I [endoplasmic reticulum membrane]
CYP7B1 S363F [endoplasmic reticulum membrane]
CYP7B1 G57R [endoplasmic reticulum membrane]
CYP7B1 R388* [endoplasmic reticulum membrane]
CYP7B1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 417 replaced with L-histidine
Coordinate
417
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
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
RefSeq
Guide to Pharmacology - Targets
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
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