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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
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) (Homo sapiens)
Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL (Homo sapiens)
CYP7B1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP7B1 R417H [endoplasmic reticulum membrane] (Homo sapiens)
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
ENSEMBL_homo_sapiens_GENE:ENSG00000172817 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
RefSeq:NM_004820.4 CYP7B1
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
AAC95426
AAD20021
AAI36575
AAK11850
CCDS6180
CYP7B1
CYP7B1-201
EAW86877
ENSG00000172817
ENSP00000310721
ENST00000310193
EntrezGene:9420
g13787190_3p_at
GE58345
GO:0000003
GO:0002376
GO:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0006629
GO:0006699
GO:0007165
GO:0008150
GO:0008202
GO:0008203
GO:0008283
GO:0008396
GO:0009058
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0031090
GO:0033147
GO:0035754
GO:0040011
GO:0042592
GO:0042632
GO:0043167
GO:0043226
GO:0043231
GO:0044281
GO:0046872
GO:0048856
GO:0048870
GO:0050679
GO:0055114
GO:0060740
HGNC:2652
HPA017761
ILMN_1701661
IPR001128
IPR002403
IPR024204
IPR036396
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
CYP7B1 mutants [endoplasmic reticulum membrane]
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-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
NP_004811.1
OpenTargets
ENSG00000172817
GeneCards
O75881
PRO
O75881
BRENDA (Homo sapiens)
1.14.14.29
Orphanet
15844
HMDB Protein
HMDBP01629
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