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sterol-C5-desaturase

Summary

Gene Symbol

SC5D

Aliases

delta(7)-sterol 5(6)-desaturase
lathosterol oxidase

Organism

Homo sapiens (human)

External Links

NCBI Gene

6309

HGNC

10547

KEGG Gene ID

hsa:6309

PubChem

6309

Alliance of Genome Resources

HGNC:10547

Annotation

Keyword

Disease variant
Endoplasmic reticulum
Iron
Oxidoreductase
Phosphoprotein
Reference proteome
Sterol biosynthesis
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O75845	C-5 sterol desaturase Delta(7)-sterol 5-desaturase Delta(7)-sterol C5(6)-desaturase Lathosterol 5-desaturase Sterol-C5-desaturase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process via lathosterol	IBA TAS
lipid metabolic process		8976377
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 [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

primary metabolic process [inference]

lipid metabolic process

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic substance metabolic process [inference]

lipid metabolic process

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process [inference]

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane
membrane	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
C-5 sterol desaturase activity	EXP IBA	12189593 12812989
delta7-sterol 5(6)-desaturase activity	IEA
iron ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water [inference]

sterol desaturase activity [inference]

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000109929

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

K00227

Name

Delta7-sterol 5-desaturase [EC:1.14.19.20]

References

Rhea

H⁺ + O₂ + lathosterol

H₂O + 7-dehydrocholesterol

Enzyme

1.14.19.20

PMID

a Δ⁷-sterol + H⁺ + O₂

a Δ⁵,Δ⁷-sterol + H₂O

Enzyme

1.14.19.20

PMID

H⁺ + O₂ + episterol

H₂O + 5-dehydroepisterol

Enzyme

1.14.19.20

PMID

Disease

Disease Ontology

Displaying entries **11 - 20** of 35 in total

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DO ID	Disease Name	Source
DOID:10907	microcephaly	DisGeNET
DOID:1148	polydactyly	DisGeNET
DOID:11832	visual epilepsy	DisGeNET
DOID:11836	clubfoot	DisGeNET
DOID:12382	complex partial epilepsy	DisGeNET
DOID:13515	tuberous sclerosis	DisGeNET
DOID:14323	Marfan syndrome	DisGeNET
DOID:14692	Smith-Lemli-Opitz syndrome	DisGeNET
DOID:1588	thrombocytopenia	DisGeNET
DOID:1682	congenital heart disease	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 45 in total

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HPO ID	HPO Term
HP:0000365	Hearing impairment
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares
HP:0000482	Microcornea
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0001162	Postaxial hand polydactyly
HP:0001250	Seizure
HP:0001252	Hypotonia

Displaying 1 entry
Disease ID	Disease Name
ORPHA:46059	lathosterolosis

PubChem Disease

MedGen Diseases

Lathosterolosis

OMIM Phenotypes

LATHOSTEROLOSIS; LATHOS

KEGG Diseases

Lathosterolosis

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000496
Gene Name: sterol-C5-desaturase

Ortholog

Displaying entries **61 - 70** of 90 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Takifugu rubripes	101067117		TAKRU12717
Chinchilla lanigera	102014758		CHILA03489
Aotus nancymaae	105729493		AOTNA05864
Phascolarctos cinereus	110207244		PHACI12103
Saimiri boliviensis boliviensis	101038292		SAIBB06358
Ictidomys tridecemlineatus	101975603		ICTTR09604
Jaculus jaculus	101611811		JACJA19268
Myotis lucifugus	102440339		MYOLU14872
Rhinolophus ferrumequinum	117017665		RHIFE27895
Taeniopygia guttata	100226384		TAEGU13994

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Last updated: August 19, 2024