Reactome | CYP7B1 R417H [endoplasmic reticulum membrane]

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

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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:hsa:9420 CYP7B1

Monarch:9420 CYP7B1

NCBI Gene:9420 CYP7B1

OMIM:603711 CYP7B1

UCSC:O75881 CYP7B1

Reference Transcript

RefSeq:NM_004820.5 CYP7B1

Other Identifiers

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

A_23_P169092

GE58345

GO:0002376

GO:0003824

GO:0004497

GO:0005506

GO:0005515

GO:0005783

GO:0005789

GO:0006629

GO:0006694

GO:0006699

GO:0008202

GO:0008203

GO:0008396

GO:0016020

GO:0016125

GO:0016491

GO:0016705

GO:0020037

GO:0022414

GO:0030520

GO:0033147

GO:0033782

GO:0033783

GO:0035754

GO:0042632

GO:0043226

GO:0046872

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

CYP7B1 mutants [endoplasmic reticulum membrane] (Homo sapiens)

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

NP_004811.1

Guide to Pharmacology - Targets

1355

ENSEMBL

ENST00000310193, ENSG00000172817, ENSP00000310721

OpenTargets

ENSG00000172817

IntEnz

1.14.14.29

GeneCards

CYP7B1

HPA

ENSG00000172817-CYP7B1

PRO

O75881

Pharos - Targets

O75881

Orphanet

CYP7B1

HMDB Protein

HMDBP01629

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P0CG47 UBB	20	UBB(77-152) [endocytic vesicle membrane] (R-HSA-939253) UBB(1-76) [endocytic vesicle membrane] (R-HSA-939231) UBB(153-228) [endocytic vesicle membrane] (R-HSA-939171) Ub-33-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783023) Ub-109-UBB(77-152) [mitochondrial outer membrane] (R-HSA-6783008) Ub-185-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783046) Ub-215-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783002) Ub-63-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783148) Ub-139-UBB(77-152) [mitochondrial outer membrane] (R-HSA-6783012) Ub-158-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783162) Ub-6-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783014) Ub-82-UBB(77-152) [mitochondrial outer membrane] (R-HSA-6783015) Ub-163-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783025) Ub-87-UBB(77-152) [mitochondrial outer membrane] (R-HSA-6782998) Ub-11-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783109) Ub-124-UBB(77-152) [mitochondrial outer membrane] (R-HSA-6783131) Ub-200-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783100) Ub-48-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783165) Ub-181-UBB(153-228) [mitochondrial outer membrane] (R-HSA-6783160) Ub-29-UBB(1-76) [mitochondrial outer membrane] (R-HSA-6783070)	0.564	2

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