Ebp EBP cholestenol delta-isomerase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ebpprovided by MGI
Official Full Name: EBP cholestenol delta-isomeraseprovided by MGI
Primary source: MGI:MGI:107822
See related: Ensembl:ENSMUSG00000031168 AllianceGenome:MGI:107822
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SI; Td; mSI; Pabp
Summary: This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum. This protein catalyses the conversion of delta8 to delta7 sterols, an important step in sterol biosynthesis. Mutations in this gene are responsible for the mouse tattered mutant phenotype. Tattered males are embryonic lethal, while heterozygous females have developmental defects. Deficiency of the related gene in human causes X-linked dominant chondrodysplasia punctata. [provided by RefSeq, May 2015]
Expression: Broad expression in liver adult (RPKM 125.5), large intestine adult (RPKM 40.4) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 3.7 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (8051568..8059751, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (8185329..8193512, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings indicate that the HO-1/EBP interaction plays a protective role in alleviating the dysfunction of oxidative stress and cardiac systolic function induced by cholesterol stimulation.
Title: HO-1/EBP interaction alleviates cholesterol-induced hypoxia through the activation of the AKT and Nrf2/mTOR pathways and inhibition of carbohydrate metabolism in cardiomyocytes.
Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).
Title: Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Radiation induced (1)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI255399 (e-PCR)
- UniSTS:181273

AW045557 (e-PCR)
- UniSTS:166172

BB265815 (e-PCR)
- UniSTS:209501

Ebp (e-PCR), detects polymorphism
- UniSTS:142944

Ebp (e-PCR), detects polymorphism
- UniSTS:546749

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables C-8 sterol isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables C-8 sterol isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables C-8 sterol isomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables C-8 sterol isomerase activity	ISO Inferred from Sequence Orthology more info
enables cholestenol delta-isomerase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables steroid delta-isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid delta-isomerase activity	IEA Inferred from Electronic Annotation more info
enables steroid delta-isomerase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification involved in bone maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol biosynthetic process	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within sterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	ISM Inferred from Sequence Model more info	PubMed
located_in intracellular membrane-bounded organelle	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Names: D8-D7 sterol isomerase; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol isomerase; phenylalkylamine Ca2+ antagonist (emopamil) binding protein; tattered

NP_031924.1

EC 5.3.3.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.