(Q21108560)

http://www.ebi.ac.uk/interpro/protein/Q15125

EXPERA domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

1 reference

13 November 2019

C-8 sterol isomerase activity

1 reference

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

transmembrane signaling receptor activity

1 reference

9 May 2019

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

steroid delta-isomerase activity

4 references

27 March 2018

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

Widespread macromolecular interaction perturbations in human genetic disorders

GOA

curator

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

steroid delta-isomerase activity

IPI

5 references

9 May 2019

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

C-8 sterol isomerase activity

EXP

1 reference

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

intracellular membrane-bounded organelle

1 reference

1 January 2018

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

integral component of plasma membrane

1 reference

9 May 2019

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

endoplasmic reticulum

4 references

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

endoplasmic reticulum

5 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

skeletal system development

IBA

biological process

1 reference

9 May 2019

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

steroid metabolic process

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

cholesterol biosynthetic process via lathosterol

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

sterol metabolic process

1 reference

9 May 2019

cholesterol biosynthetic process via desmosterol

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

steroid biosynthetic process

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

cholesterol biosynthetic process

3 references

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

27 March 2018

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

xenobiotic transmembrane transport

IDA

1 reference

8 April 2019

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

1 reference

27 March 2018

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q15125&geneProductId=UniProtKB:Q15125

1 reference

1 January 2018

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

cholesterol biosynthetic process

3 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

1 reference

9 May 2019

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q15125

imported from Wikimedia project

EC enzyme number

5.3.3.5

1 reference

1 reference

InterPro Release 71.0