Format

Send to:

Choose Destination

SC5D sterol-C5-desaturase [ Homo sapiens (human) ]

Gene ID: 6309, updated on 20-Dec-2019

Summary

Official Symbol
SC5Dprovided by HGNC
Official Full Name
sterol-C5-desaturaseprovided by HGNC
Primary source
HGNC:HGNC:10547
See related
Ensembl:ENSG00000109929 MIM:602286
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERG3; S5DES; SC5DL
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]
Expression
Ubiquitous expression in liver (RPKM 29.7), prostate (RPKM 24.2) and 23 other tissues See more
Orthologs

Genomic context

See SC5D in Genome Data Viewer
Location:
11q23.3-q24.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (121292771..121313410)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (121163388..121184119)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369534 Neighboring gene ribosomal protein S4X pseudogene 12 Neighboring gene bone morphogenetic protein receptor type 1A pseudogene 2 Neighboring gene uncharacterized LOC105369536 Neighboring gene sortilin related receptor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-5 sterol desaturase activity EXP
Inferred from Experiment
more info
PubMed 
C-5 sterol desaturase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process via desmosterol TAS
Traceable Author Statement
more info
 
cholesterol biosynthetic process via lathosterol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process via lathosterol TAS
Traceable Author Statement
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lathosterol oxidase
Names
3beta-hydroxysteroid-delta5-desaturase
C-5 sterol desaturase
delta(7)-sterol 5(6)-desaturase
delta(7)-sterol 5-desaturase
delta(7)-sterol C5(6)-desaturase
fungal ERG3, delta-5-desaturase-like
lathosterol 5-desaturase
lathosterol dehydrogenase
sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
NP_001020127.1
NP_008849.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009446.1 RefSeqGene

    Range
    5093..25732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024956.2NP_001020127.1  lathosterol oxidase

    See identical proteins and their annotated locations for NP_001020127.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AP002959, BC012333
    Consensus CDS
    CCDS8435.1
    UniProtKB/Swiss-Prot
    O75845
    UniProtKB/TrEMBL
    A0A024R3G4
    Related
    ENSP00000376539.2, ENST00000392789.2
    Conserved Domains (1) summary
    COG3000
    Location:34257
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
  2. NM_006918.5NP_008849.2  lathosterol oxidase

    See identical proteins and their annotated locations for NP_008849.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK223141, AP002959
    Consensus CDS
    CCDS8435.1
    UniProtKB/Swiss-Prot
    O75845
    UniProtKB/TrEMBL
    A0A024R3G4
    Related
    ENSP00000264027.4, ENST00000264027.9
    Conserved Domains (1) summary
    COG3000
    Location:34257
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    121292771..121313410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center