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24-dehydrocholesterol reductase

Summary

Gene Symbol

DHCR24

Aliases

Delta(24)-sterol reductase
KIAA0018
seladin-1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1718

HGNC

2859

KEGG Gene ID

hsa:1718

PubChem

1718

Alliance of Genome Resources

HGNC:2859

Annotation

Keyword

Alternative splicing
Cholesterol biosynthesis
Disease variant
Endoplasmic reticulum
FAD
Golgi apparatus
NADP
Oxidoreductase
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q15392	24-dehydrocholesterol reductase 3-beta-hydroxysterol Delta-24-reductase Diminuto/dwarf1 homolog Seladin-1

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IMP ISS TAS	11519011
membrane organization	IEA
cholesterol biosynthetic process via lathosterol
tissue development	IMP	12457401
amyloid precursor protein catabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

amyloid precursor protein metabolic process [inference]

amyloid precursor protein catabolic process

protein maturation [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

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

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

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

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

amyloid precursor protein metabolic process [inference]

amyloid precursor protein catabolic process

protein maturation [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

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

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

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

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

amyloid precursor protein metabolic process [inference]

amyloid precursor protein catabolic process

protein maturation [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

organic cyclic compound metabolic process [inference]

steroid metabolic process

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

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

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

amyloid precursor protein metabolic process [inference]

amyloid precursor protein catabolic process

protein maturation [inference]

protein processing [inference]

zymogen activation [inference]

plasminogen activation

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 [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 [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]

signal transduction [inference]

intracellular signal transduction [inference]

small GTPase mediated signal transduction [inference]

Ras protein signal transduction

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization

reproductive process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

developmental process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

anatomical structure development [inference]

tissue development

animal organ development [inference]

skin development

genitalia development [inference]

male genitalia development

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

system development [inference]

reproductive system development [inference]

male genitalia development

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone

response to chemical [inference]

response to organic substance [inference]

response to hormone

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

small GTPase mediated signal transduction [inference]

Ras protein signal transduction

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

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GO Term	Evidence Code	PMID
nucleus	IDA	15577914
endoplasmic reticulum	IDA	11007892
cytoplasm	IBA
endoplasmic reticulum membrane	NAS	11007892
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

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GO Term	Evidence Code	PMID
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	11519011
delta24(24-1) sterol reductase activity	IBA IMP	11519011
delta24-sterol reductase activity	EXP TAS	11519011
enzyme binding	IPI	15577914
peptide antigen binding	IPI	15577914

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the CH-CH group of donors [inference]

oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor

binding [inference]

antigen binding [inference]

peptide antigen binding

protein binding

enzyme binding

amide binding [inference]

peptide binding [inference]

peptide antigen binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

ion binding [inference]

anion binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000116133

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

K09828

Name

Delta24-sterol reductase [EC:1.3.1.72 1.3.1.-]

References

Rhea

RHEA:36395

7-dehydrocholesterol + NADP⁺

H⁺ + 7-dehydrodesmosterol + NADPH

Enzyme

1.3.1.72

PMID

23583456

RHEA:36391

cholesterol + NADP⁺

H⁺ + desmosterol + NADPH

Enzyme

1.3.1.72

PMID

RHEA:13685

lathosterol + NADP⁺

H⁺ + 5α-cholesta-7,24-dien-3β-ol + NADPH

Enzyme

1.3.1.72

PMID

RHEA:36399

5α-cholest-8-en-3β-ol + NADP⁺

H⁺ + zymosterol + NADPH

Enzyme

1.3.1.72

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0050424	familial adenomatous polyposis	DisGeNET
DOID:0050453	lissencephaly	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET
DOID:0060041	autism spectrum disorder	DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET
DOID:0060278	pontocerebellar hypoplasia type 9	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1	DisGeNET DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000033	Ambiguous genitalia, male
HP:0000061	Ambiguous genitalia, female
HP:0000062	Ambiguous genitalia
HP:0000104	Renal agenesis
HP:0000160	Narrow mouth
HP:0000169	Gingival fibromatosis
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:602398	desmosterolosis
ORPHA:35107	desmosterolosis

PubChem Disease

GHR Health Conditions

Desmosterolosis

MedGen Diseases

Desmosterolosis

OMIM Phenotypes

DESMOSTEROLOSIS

KEGG Diseases

Desmosterolosis

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002230
Gene Name: 24-dehydrocholesterol reductase

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	186134	WB:WBGene00018718
Ciona intestinalis	100181233		CIOIN09742
Callorhinchus milii	103182734		CALMI25619
Latimeria chalumnae	102351351		LATCH06842
Danio rerio	494102	ZFIN:ZDB-GENE-041212-73	DANRE18898
Astyanax mexicanus	103030946		ASTMX12786
Electrophorus electricus	113588646		ELEEL41409
Salmo salar	106584213		SALSA85431
Salmo trutta	115192413		SALTR29656
Gadus morhua	115555023		GADMO06659

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