CYP7B1 R417H

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 CYP7B1
HGNC:2652 CYP7B1
KEGG Gene (Homo sapiens):hsa:9420 CYP7B1
Monarch:9420 CYP7B1
NCBI Gene:9420 CYP7B1
OMIM:603711 CYP7B1
UCSC:O75881 CYP7B1
Reference Transcript
Other Identifiers
0002480100
11740151_at
17077723
17761
207386_at
3138207
3138208
3138209
3138211
3138218
3138219
3138220
3138221
3138223
3138246
3138247
3138248
33055_at
8151056
9420
CCDS6180
CYP7B1
CYP7B1-201
ENSG00000172817
ENSP00000310721
ENST00000310193
EntrezGene:9420
g13787190_3p_at
GE58345
GO:0004497
GO:0005506
GO:0005783
GO:0005789
GO:0006629
GO:0006699
GO:0008202
GO:0008203
GO:0008396
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0031090
GO:0033147
GO:0035754
GO:0043231
GO:0046872
GO:0050679
GO:0055114
GO:0060740
HGNC:2652
HPA017761
Hs.667720
ILMN_1701661
MIM:270800
MIM:603711
MIM:613812
NM_004820
NP_004811
PF00067
PH_hs_0008586
PR00385
PR00465
TC08001275.hg
uc003xvj.3
UPI0000128218
XM_017014002
XP_016869491
Participant Of
hasMember
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 HEY
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
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
Brenda
GeneCards
PRO
Orphanet
HMDB Protein