Reactome | CYP11A1 D271_V272insGD [mitochondrial matrix]

CYP11A1 D271_V272insGD [mitochondrial matrix]

Stable Identifier

R-HSA-5580258

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

Cytochrome P450 11A1

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:P05108 CYP11A1

Gene Names

CYP11A1, CYP11A

Chain

transit peptide:1-39, chain:40-521

Reference Genes

BioGPS Gene:1583 CYP11A1

COSMIC (genes):CYP11A1 CYP11A1

CTD Gene:1583 CYP11A1

dbSNP Gene:1583 CYP11A1

ENSEMBL:ENSG00000140459 CYP11A1

HGNC:2590 CYP11A1

KEGG:hsa:1583 CYP11A1

Monarch:1583 CYP11A1

NCBI Gene:1583 CYP11A1

OMIM:118485 CYP11A1

UCSC:P05108 CYP11A1

Reference Transcript

Other Identifiers

11729652_a_at

11750526_a_at

1583

16811617

204309_PM_at

204309_at

3048858

3632863

3632864

3632865

3632866

3632867

3632868

3632869

3632870

3632871

3632872

3632873

3632874

3632875

3632876

3632877

3632878

3632879

3632880

3632881

3632883

3632884

3632885

3632887

3632888

3632889

3632893

3632894

37195_at

3984518

7990333

A_23_P129169

GE57831

GO:0003824

GO:0004497

GO:0005506

GO:0005515

GO:0005739

GO:0005743

GO:0005759

GO:0006629

GO:0006694

GO:0006700

GO:0006704

GO:0006766

GO:0008203

GO:0008207

GO:0008386

GO:0008395

GO:0016020

GO:0016125

GO:0016491

GO:0016705

GO:0020037

GO:0034650

GO:0042359

GO:0042446

GO:0043226

GO:0046872

GO:0071375

GO:1901615

HMNXSV003007473

ILMN_1768820

M14565_at

PH_hs_0004396

TC15001642.hg

TC15002624.hg

g4503188_3p_at

Participates

as a member of

CYP11A1 mutants [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

CYP11A1 I279Yfs*10 [mitochondrial matrix]

CYP11A1 V415E [mitochondrial matrix]

CYP11A1 [mitochondrial matrix]

Modified Residues

Name

Replacement of residues 271 to 272 by DGDV

Disease

Name	Identifier	Synonyms
congenital adrenal insufficiency	DOID:0050546	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY

Cross References

Guide to Pharmacology - Targets

1358

ENSEMBL

ENST00000672913, ENSP00000268053, ENSP00000500767, ENST00000268053, ENSP00000351455, ENST00000358632, ENSP00000499849, ENSG00000288362, ENST00000672385, ENSG00000140459

OpenTargets

ENSG00000140459

ZINC - Substances

CP11A_HUMAN

ZINC target

P05108

PRO

P05108

PDB

3N9Z, 3NA1, 3N9Y, 3NA0

IntEnz

1.14.15.6

GeneCards

CYP11A1

HPA

ENSG00000140459-CYP11A1

Pharos - Targets

P05108

Orphanet

CYP11A1

ZINC - Predictions - Purchasable

CP11A_HUMAN

HMDB Protein

HMDBP00724

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