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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)

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GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IBA IDA	9894009
cholesterol biosynthetic process via lathosterol
ossification involved in bone maturation	IMP	10391219
hemopoiesis	IEA
cholesterol biosynthetic process via desmosterol

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

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nuclear envelope	IDA	10406945
endoplasmic reticulum	IBA IDA	10406945
endoplasmic reticulum membrane	ISM TAS	7706302
nuclear membrane	IDA
cytoplasmic vesicle	IEA

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 **all 5** entries
GO Term	Evidence Code	PMID
C-8 sterol isomerase activity	IBA ISS
cholestenol delta-isomerase activity	IEA
protein binding	IPI	25910212 32296183
steroid delta-isomerase activity	EXP IBA IDA IMP	10391218 10391219 9894009
identical protein binding	IPI	32296183

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

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

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

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DO ID	Disease Name	Source
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET
DOID:0050908	myelodysplastic syndrome	DisGeNET
DOID:0060215	Balo concentric sclerosis	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0060287	cornea plana	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060293	autosomal dominant chondrodysplasia punctata	DisGeNET DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000028	Cryptorchidism
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000237	Small anterior fontanelle
HP:0000238	Hydrocephalus
HP:0000260	Wide anterior fontanel
HP:0000272	Malar flattening
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism

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

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	436600	ZFIN:ZDB-GENE-040718-12
Astyanax mexicanus	103033067		ASTMX06391
Ictalurus punctatus	108275532		ICTPU07763
Salmo trutta	115165230		SALTR85925
Gadus morhua	115534553		GADMO26083
Oreochromis niloticus	100693619		ORENI36932
Chrysemys picta bellii	101949826		CHRPI29060
Ornithorhynchus anatinus	100082141		ORNAN23976
Erinaceus europaeus	103119137		ERIEU04310
Callithrix jacchus	100398463		CALJA47381

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements