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EBP cholestenol delta-isomerase

Summary

Gene Symbol

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

13595

PubChem

13595

Alliance of Genome Resources

MGI:107822

Annotation

Keyword

Acetylation
Cholesterol biosynthesis
Cytoplasmic vesicle
Direct protein sequencing
Disease variant
Endoplasmic reticulum
Isomerase
Nucleus
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P70245	Cholestenol Delta-isomerase Delta(8)-Delta(7) sterol isomerase Emopamil-binding protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IBA IEA ISO ISS
sterol biosynthetic process	IC IMP	10391218 8798407
hemopoiesis	IMP	10987663
ossification involved in bone maturation	IEA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

cellular developmental process [inference]

cell development [inference]

hemopoiesis

multicellular organismal process [inference]

ossification [inference]

ossification involved in bone maturation

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

hemopoiesis

cellular developmental process [inference]

cell development [inference]

hemopoiesis

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
cytoplasmic vesicle	IEA
nuclear membrane	IEA ISO
endoplasmic reticulum membrane	ISM	8798407
intracellular membrane-bounded organelle	ISS
endoplasmic reticulum	IBA ISO ISS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

Displaying **all 4** entries
GO Term	Evidence Code	PMID
C-8 sterol isomerase activity	IBA IDA IMP ISO	10391218 8798407
steroid delta-isomerase activity	IBA IEA ISO
cholestenol delta-isomerase activity	IEA
identical protein binding	IEA ISO

GO Hierarchy

molecular function

catalytic activity [inference]

isomerase activity [inference]

intramolecular oxidoreductase activity [inference]

intramolecular oxidoreductase activity, transposing C=C bonds [inference]

binding [inference]

protein binding [inference]

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Rodentia

Group Name

3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

Functional Category

K: Transcription
T: Signal transduction mechanisms
X: Mobilome: prophages, transposons

Displaying **all 10** entries
Gene Ontology
C-8 sterol isomerase activity
cholestenol delta-isomerase activity
cholesterol biosynthetic process
isomerase activity
lipid metabolic process
steroid biosynthetic process
steroid delta-isomerase activity
steroid metabolic process
sterol biosynthetic process
sterol metabolic process

Displaying **all 2** entries
InterPro
EXPERA domain
Emopamil-binding protein

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0060292	X-linked chondrodysplasia punctata 1	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2	Alliance of Genome Resources
DOID:0111865	MEND syndrome	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of **103** in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Homo sapiens	10682		HGNC:3133	HUMAN100480
Rattus norvegicus	117278	10116_1:00555a	RGD:620957	RATNO45264
Danio rerio	436600		ZFIN:ZDB-GENE-040718-12
Bos taurus	515569			BOVIN37016
Canis lupus familiaris	609430			CANLF17941
Macaca mulatta	710596			MACMU47978
Macaca mulatta	714315			MACMU47978
Monodelphis domestica	100018802			MONDO36206
Equus caballus	100051672			HORSE44870
Ornithorhynchus anatinus	100082141			ORNAN23976

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements