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

    Gene ID: 6309, updated on 8-Jul-2021

    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
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    Genomic context

    See SC5D in Genome Data Viewer
    Location:
    11q23.3-q24.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (121292771..121313410)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (121163480..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 SORL1 antisense RNA 1 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
    enables C-5 sterol desaturase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables C-5 sterol desaturase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables delta7-sterol 5(6)-desaturase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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)

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    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_001024956.3NP_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 109.20210514

    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)
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