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EBP cholestenol delta-isomerase

Summary

Gene Symbol

Aliases

3-beta-hydroxysteroid-delta-8,delta-7-isomerase
CHO2
CPX
CPXD
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
sterol 8-isomerase

Organism

Homo sapiens (human)

External Links

NCBI Gene

10682

HGNC

3133

KEGG Gene ID

hsa:10682

PubChem

10682

Alliance of Genome Resources

HGNC:3133

Annotation

Keyword

3D-structure
Acetylation
Cataract
Cholesterol biosynthesis
Cytoplasmic vesicle
Disease variant
Dwarfism
Endoplasmic reticulum
Ichthyosis
Isomerase
Nucleus
Reference proteome
Sterol biosynthesis
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A024QYX0	Cholestenol Delta-isomerase Delta(8)-Delta(7) sterol isomerase
Q15125	Cholestenol Delta-isomerase Delta(8)-Delta(7) sterol isomerase Emopamil-binding protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IDA	9894009
cholesterol biosynthetic process	IBA
cholesterol metabolic process	IMP	10391219
hemopoiesis	IEA
cholesterol biosynthetic process via desmosterol	TAS

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 [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

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 [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

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

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 [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

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

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

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

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GO Term	Evidence Code	PMID
nuclear envelope	IDA	10406945
endoplasmic reticulum	IDA	10406945
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	ISM	7706302
endoplasmic reticulum membrane	TAS

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 [inference]

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
C-8 sterol isomerase activity	ISS
C-8 sterol isomerase activity	IBA
steroid delta-isomerase activity	EXP	10391218 10391219
steroid delta-isomerase activity	IDA	10391219 9894009
steroid delta-isomerase activity	IMP	10391219

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ether bonds [inference]

ether hydrolase activity [inference]

cholesterol-5,6-oxide hydrolase activity

isomerase activity [inference]

intramolecular oxidoreductase activity [inference]

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

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

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

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

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

Human Protein Atlas

ENSG00000147155

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01824

Name

cholestenol Delta-isomerase [EC:5.3.3.5]

References

8798407

Rhea

RHEA:15281

lathosterol

5α-cholest-8-en-3β-ol

Enzyme

5.3.3.5

PMID

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
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

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000960	Sacral dimple
HP:0000969	Edema
HP:0001019	Erythroderma
HP:0001104	Macular hypoplasia
HP:0001134	Anterior polar cataract
HP:0001161	Hand polydactyly
HP:0001197	Abnormality of prenatal development or birth
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:302960	X-linked chondrodysplasia punctata 2
ORPHA:35173	X-linked chondrodysplasia punctata 2
ORPHA:401973	MEND syndrome
OMIM:300960	MEND syndrome

PubChem Disease

GHR Health Conditions

X-linked chondrodysplasia punctata 2

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000533
Gene Name: emopamil binding protein (sterol isomerase)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	10682	ZFIN:ZDB-GENE-040718-12
Mus musculus	13595	ZFIN:ZDB-GENE-040718-12	MOUSE66204
Rattus norvegicus	117278		RATNO45264
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

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements