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    SCD5 stearoyl-CoA desaturase 5 [ Homo sapiens (human) ]

    Gene ID: 79966, updated on 14-Nov-2024

    Summary

    Official Symbol
    SCD5provided by HGNC
    Official Full Name
    stearoyl-CoA desaturase 5provided by HGNC
    Primary source
    HGNC:HGNC:21088
    See related
    Ensembl:ENSG00000145284 MIM:608370; AllianceGenome:HGNC:21088
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCD2; SCD4; ACOD4; FADS4; HSCD5; DFNA79
    Summary
    Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in brain (RPKM 129.6), adrenal (RPKM 62.7) and 5 other tissues See more
    Orthologs
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    Genomic context

    See SCD5 in Genome Data Viewer
    Location:
    4q21.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (82629539..82798796, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (85958718..86128016, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (83550692..83719949, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83506651-83507180 Neighboring gene Sharpr-MPRA regulatory region 8782 Neighboring gene PTPN11 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83561231-83561730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83614716-83615216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83615217-83615717 Neighboring gene uncharacterized LOC124900727 Neighboring gene SLC66A2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15533 Neighboring gene microRNA 575 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:83718175-83718696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83719673-83720390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83720391-83721107 Neighboring gene SEC31 homolog A, COPII coat complex component Neighboring gene THAP9 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 143 Neighboring gene small nucleolar RNA, C/D box 144

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    Associated conditions

    Description Tests
    Hearing loss, autosomal dominant 79
    MedGen: C5436772 OMIM: 619086 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ21032

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables iron ion binding  
    enables metal ion binding  
    enables oxidoreductase activity PubMed 
    enables stearoyl-CoA 9-desaturase activity  
    enables stearoyl-CoA 9-desaturase activity PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum membrane PubMed 
    located_in endoplasmic reticulum membrane  

    General protein information

    Preferred Names
    stearoyl-CoA desaturase 5
    Names
    acyl-CoA-desaturase 4
    stearoyl-CoA 9-desaturase
    stearoyl-CoA desaturase 2
    stearoyl-CoA desaturase 4
    NP_001032671.2
    NP_079182.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001037582.3NP_001032671.2  stearoyl-CoA desaturase 5 isoform a

      See identical proteins and their annotated locations for NP_001032671.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encoded the longer isoform (A).
      Source sequence(s)
      AF389338, BC048971, DB479400, DR763368
      Consensus CDS
      CCDS34024.1
      UniProtKB/Swiss-Prot
      B2RPG0, Q4W5Q5, Q86SK9, Q8NDS0, Q9H7D1
      Related
      ENSP00000316329.4, ENST00000319540.9
      Conserved Domains (2) summary
      cd03505
      Location:71311
      Delta9-FADS-like; The Delta9 Fatty Acid Desaturase (Delta9-FADS)-like CD includes the delta-9 and delta-11 acyl CoA desaturases found in various eukaryotes including vertebrates, insects, higher plants, and fungi. The delta-9 acyl-lipid desaturases are found in a wide ...
      pfam00487
      Location:77279
      FA_desaturase; Fatty acid desaturase
    2. NM_024906.3NP_079182.2  stearoyl-CoA desaturase 5 isoform b

      See identical proteins and their annotated locations for NP_079182.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 3' coding region, compared to variant 1, which result in a protein (isoform B) with a shorter and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AC073413
      Consensus CDS
      CCDS3595.1
      UniProtKB/Swiss-Prot
      Q86SK9
      Related
      ENSP00000273908.4, ENST00000273908.4
      Conserved Domains (1) summary
      cd03505
      Location:71159
      Delta9-FADS-like; The Delta9 Fatty Acid Desaturase (Delta9-FADS)-like CD includes the delta-9 and delta-11 acyl CoA desaturases found in various eukaryotes including vertebrates, insects, higher plants, and fungi. The delta-9 acyl-lipid desaturases are found in a wide ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      82629539..82798796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      85958718..86128016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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