Gene/Proteome Database (LMPD)

LMPD ID
LMP000496
Gene ID
6309
Species
Homo sapiens (Human)
Gene Name
sterol-C5-desaturase
Gene Symbol
SC5D
Synonyms
ERG3; S5DES; SC5DL
Alternate Names
lathosterol oxidase; C-5 sterol desaturase; lathosterol 5-desaturase; lathosterol dehydrogenase; delta(7)-sterol 5-desaturase; fungal ERG3, delta-5-desaturase-like; 3beta-hydroxysteroid-delta5-desaturase; sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
Chromosome
11
Map Location
11q23.3
EC Number
1.14.21.6
Summary
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for SC5D

Proteins

lathosterol oxidase
Refseq ID NP_008849
Protein GI 68160941
UniProt ID O75845
mRNA ID NM_006918
Length 299
RefSeq Status REVIEWED
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
lathosterol oxidase
Refseq ID NP_001020127
Protein GI 68160945
UniProt ID O75845
mRNA ID NM_001024956
Length 299
RefSeq Status REVIEWED
Protein sequence is identical to GI:68160941 (mRNA isoform)

Gene Information

Entrez Gene ID
6309
Gene Name
sterol-C5-desaturase
Gene Symbol
SC5D
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0000248 TAS:ProtInc F C-5 sterol desaturase activity
GO:0005506 IEA:InterPro F iron ion binding
GO:0050046 IEA:UniProtKB-EC F lathosterol oxidase activity
GO:0006695 TAS:Reactome P cholesterol biosynthetic process
GO:0033490 IEA:Ensembl P cholesterol biosynthetic process via lathosterol
GO:0006633 IEA:InterPro P fatty acid biosynthetic process
GO:0006629 TAS:ProtInc P lipid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_147904 Activation of gene expression by SREBF (SREBP)
REACT_9405 Cholesterol biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR006694 Fatty_acid_hydroxylase

UniProt Annotations

Entry Information

Gene Name
sterol-C5-desaturase
Protein Entry
SC5D_HUMAN
UniProt ID
O75845
Species
Human

Comments

Comment Type Description
Catalytic Activity 5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = cholesta-5,7-dien-3-beta-ol + NAD(P)(+) + 2 H(2)O.
Cofactor Name=Fe cation; Xref=ChEBI
Disease Lathosterolosis (LATHST) [MIM
Domain The histidine box domains may contain the active site and/or be involved in metal ion binding.
Function Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.
Similarity Belongs to the sterol desaturase family.
Subcellular Location Endoplasmic reticulum membrane {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP000496 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
68160941 RefSeq NP_008849 299 lathosterol oxidase

Identical Sequences to LMP000496 proteins

Reference Database Accession Length Protein Name
GI:68160941 DBBJ BAG35518.1 299 unnamed protein product [Homo sapiens]
GI:68160941 EMBL CBX51899.1 299 unnamed protein product [Equus caballus]
GI:68160941 GenBank ADQ31867.1 299 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like, partial [synthetic construct]
GI:68160941 GenBank AEW32446.1 299 Sequence 48 from patent US 8071305
GI:68160941 GenBank AIC49677.1 299 SC5DL, partial [synthetic construct]
GI:68160941 SwissProt O75845.2 299 RecName: Full=Lathosterol oxidase; AltName: Full=C-5 sterol desaturase; AltName: Full=Delta(7)-sterol 5-desaturase; AltName: Full=Lathosterol 5-desaturase; AltName: Full=Sterol-C5-desaturase [Homo sapiens]

Related Sequences to LMP000496 proteins

Reference Database Accession Length Protein Name
GI:68160941 DBBJ BAA33729.1 299 sterol-C5-desaturase [Homo sapiens]
GI:68160941 DBBJ BAB68218.1 299 sterol C5 desaturase [Homo sapiens]
GI:68160941 GenBank ACM82648.1 300 Sequence 8146 from patent US 6812339
GI:68160941 RefSeq XP_004052346.1 299 PREDICTED: lathosterol oxidase isoform 1 [Gorilla gorilla gorilla]
GI:68160941 RefSeq XP_004052347.1 299 PREDICTED: lathosterol oxidase isoform 2 [Gorilla gorilla gorilla]
GI:68160941 RefSeq XP_004052348.1 299 PREDICTED: lathosterol oxidase-like [Gorilla gorilla gorilla]