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7-dehydrocholesterol reductase

Summary

Gene Symbol

DHCR7

Organism

Homo sapiens (human)

External Links

NCBI Gene

1717

HGNC

2860

KEGG Gene ID

hsa:1717

PubChem

1717

Alliance of Genome Resources

HGNC:2860

Annotation

Keyword

Cholesterol biosynthesis
Disease variant
Endoplasmic reticulum
NADP
Oxidoreductase
Phosphoprotein
Reference proteome
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9UBM7	Delta7-sterol reductase Sterol Delta(7)-reductase Sterol reductase SR-2
A0A024R5F7	Sterol Delta(7)-reductase

Annotation information from UniProt.

Gene Ontology (GO)

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

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GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IMP	9465114
cholesterol biosynthetic process	IBA
cholesterol biosynthetic process via desmosterol	TAS
cholesterol biosynthetic process via lathosterol	TAS
cholesterol biosynthetic process via lathosterol	IMP	38297129 38297130

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 [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

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 [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

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 [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

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

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of programmed cell death [inference]

positive regulation of ferroptosis

regulation of cellular process [inference]

regulation of programmed cell death [inference]

positive regulation of programmed cell death [inference]

positive regulation of ferroptosis

regulation of ferroptosis [inference]

positive regulation of ferroptosis

positive regulation of cellular process [inference]

positive regulation of programmed cell death [inference]

positive regulation of ferroptosis

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nuclear outer membrane	IDA	9878250
endoplasmic reticulum	IDA	9878250
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

outer membrane [inference]

organelle outer membrane [inference]

nuclear outer membrane

organelle membrane [inference]

endoplasmic reticulum membrane

nuclear membrane [inference]

nuclear outer membrane

bounding membrane of organelle [inference]

organelle outer membrane [inference]

nuclear outer membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

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

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GO Term	Evidence Code	PMID
protein binding	IPI	25637936 32694168
cholesterol-5,6-oxide hydrolase activity	IMP	20615952
7-dehydrocholesterol reductase activity	EXP	9465114
7-dehydrocholesterol reductase activity	IDA	9465114
7-dehydrocholesterol reductase activity	IMP	38297129 38297130

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 [inference]

7-dehydrocholesterol reductase activity

hydrolase activity [inference]

hydrolase activity, acting on ether bonds [inference]

ether hydrolase activity [inference]

cholesterol-5,6-oxide hydrolase activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

reductase

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
lipid metabolic process
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
oxidoreductase activity
steroid biosynthetic process
steroid metabolic process
sterol biosynthetic process

Displaying **all 2** entries
InterPro
Sterol biosynthesis ERG24/DHCR-like
Sterol reductase, conserved site

Human Protein Atlas

ENSG00000172893

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

K00213

Name

7-dehydrocholesterol reductase [EC:1.3.1.21]

References

9465114

Rhea

RHEA:23984

cholesterol + NADP⁺

H⁺ + 7-dehydrocholesterol + NADPH

Enzyme

1.3.1.21

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:14692	Smith-Lemli-Opitz syndrome	Alliance of Genome Resources
DOID:13241	Behcet's disease	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **171 - 180** of **180** in total

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HPO ID	HPO Term
HP:0010297	Bifid tongue
HP:0010569	Elevated circulating 7-dehydrocholesterol concentration
HP:0010655	Epiphyseal stippling
HP:0010880	Increased nuchal translucency
HP:0011069	Supernumerary tooth
HP:0011968	Feeding difficulties
HP:0030680	Abnormal cardiovascular system morphology
HP:0100542	Abnormal localization of kidney
HP:0100702	Arachnoid cyst
HP:0100716	Self-injurious behavior

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:270400	Smith-Lemli-Opitz syndrome
ORPHA:818	Smith-Lemli-Opitz syndrome

PubChem Disease

GHR Health Conditions

Smith-Lemli-Opitz syndrome

MedGen Diseases

Smith-Lemli-Opitz syndrome

OMIM Phenotypes

SMITH-LEMLI-OPITZ SYNDROME; SLOS

KEGG Diseases

Smith-Lemli-Opitz syndrome

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002707
Gene Name: 7-dehydrocholesterol reductase

Ortholog

Displaying entries **1 - 10** of 86 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	1717	Xenbase:XB-GENE-920362
Drosophila melanogaster	3930	FB:FBgn0034657
Drosophila melanogaster	7108	FB:FBgn0034657
Mus musculus	13360		MOUSE57316
Rattus norvegicus	64191		RATNO18995
Drosophila melanogaster	98386	FB:FBgn0034657
Pan troglodytes	451393		PANTR03683
Canis lupus familiaris	483675		CANLF05936
Bos taurus	514745		BOVIN23661
Equus caballus	100061433		HORSE05920

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Other Information

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements