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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 **all 2** entries
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
A0A024R3G4

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 **1 - 10** of 35 in total

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DO ID	Disease Name	Source
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0060287	cornea plana	DisGeNET
DOID:0060673	Peters anomaly	DisGeNET
DOID:0110213	isolated cleft palate	DisGeNET DisGeNET DisGeNET
DOID:10003	sensorineural hearing loss	DisGeNET
DOID:1059	intellectual disability	DisGeNET DisGeNET
DOID:1088	meningocele	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 45 in total

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HPO ID	HPO Term
HP:0000085	Horseshoe kidney
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000340	Sloping forehead
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia

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 **1 - 10** of 91 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Callorhinchus milii	103190397		CALMI43627
Latimeria chalumnae	102365779		LATCH20091
Danio rerio	447891	ZFIN:ZDB-GENE-040912-56	DANRE21424
Astyanax mexicanus	103032395		ASTMX17862
Ictalurus punctatus	100528129		ICTPU11707
Electrophorus electricus	113574240		ELEEL01070
Salmo salar	106576971		SALSA88465
Salmo trutta	115148693		SALTR19667
Salmo trutta	115193389		SALTR90672
Gadus morhua	115547758		GADMO55721

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Last updated: August 19, 2024