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

Expand all

Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Metabolic disorders of biological oxidation enzymes (Homo sapiens)
    - Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) (Homo sapiens)
      - Defective CYP11A1 does not cleave 20a,22b-DHCHOL (Homo sapiens)
        
        CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix] (Homo sapiens)
        
        CYP11A1 mutants [mitochondrial matrix] (Homo sapiens)
        
        CYP11A1 D271_V272insGD [mitochondrial matrix] (Homo sapiens)

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

ENSEMBL:ENSG00000288362 CYP11A1

HGNC:2590 CYP11A1

KEGG Gene (Homo sapiens):1583 CYP11A1

Monarch:1583 CYP11A1

NCBI Gene:1583 CYP11A1

OMIM:118485 CYP11A1

UCSC:P05108 CYP11A1

Reference Transcript

Other Identifiers

0003990400

11729652_a_at

11750526_a_at

1583

16811617

204309_at

3632863

3632864

3632867

3632870

3632872

3632873

3632874

3632875

3632876

3632877

3632878

3632879

3632887

3632888

3632889

3632893

3632894

37195_at

7990333

A_23_P129169

GE57831

GO:0003674

GO:0004497

GO:0005506

GO:0005515

GO:0005575

GO:0005622

GO:0005737

GO:0005739

GO:0005743

GO:0005759

GO:0006629

GO:0006694

GO:0006700

GO:0006704

GO:0008150

GO:0008202

GO:0008203

GO:0008207

GO:0008386

GO:0009058

GO:0016020

GO:0016125

GO:0016491

GO:0016705

GO:0020037

GO:0034650

GO:0042359

GO:0043167

GO:0043226

GO:0044281

GO:0046872

GO:0055114

GO:0071375

ILMN_1768820

M14565_at

PH_hs_0004396

TC15001642.hg

TC15002624.hg

g4503188_3p_at

Participant Of

hasMember

CYP11A1 mutants [mitochondrial matrix]

Other forms of this molecule

CYP11A1 I287Yfs*10 [mitochondrial matrix]

CYP11A1 V415E [mitochondrial matrix]

CYP11A1 [mitochondrial matrix]

Modified Residues

Name

Insertion of residues 270 to 271 at 272 from UniProt:P05108 CYP11A1

Coordinate

272

Name

L-tryptophan 272 replaced with glycine

Coordinate

272

PsiMod

L-tryptophan removal [MOD:01648]

A protein modification that effectively removes or replaces an L-tryptophan.

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

Disease

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

Cross References

RefSeq

NP_001093243.1, NP_000772.2

OpenTargets

ENSG00000140459

IntEnz

1.14.15.6

HPA

ENSG00000140459-CYP11A1

GeneCards

P05108

ZINC target

P05108

Ensembl

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

PRO

P05108

Orphanet

15833

ZINC - Predictions - Purchasable

CP11A_HUMAN

HMDB Protein

HMDBP00724

PDB

3NA0, 3N9Y, 3N9Z, 3NA1