InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ebp

Summary

InnateDB Protein

IDBP-130288.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Ebp

Protein Name

phenylalkylamine Ca2+ antagonist (emopamil) binding protein

Synonyms

AI255399; mSI; Pabp; Td;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000033509

InnateDB Gene

IDBG-130286 (Ebp)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Note=Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000247	C-8 sterol isomerase activity
GO:0047750	cholestenol delta-isomerase activity

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0016125	sterol metabolic process
GO:0016126	sterol biosynthetic process
GO:0030097	hemopoiesis

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle