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    SCO1 synthesis of cytochrome C oxidase 1 [ Homo sapiens (human) ]

    Gene ID: 6341, updated on 4-Jul-2021

    Summary

    Official Symbol
    SCO1provided by HGNC
    Official Full Name
    synthesis of cytochrome C oxidase 1provided by HGNC
    Primary source
    HGNC:HGNC:10603
    See related
    Ensembl:ENSG00000133028 MIM:603644
    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
    SCOD1; MC4DN4
    Summary
    Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 11.6), kidney (RPKM 11.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SCO1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (10672474..10697533, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10575791..10600850, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 1 Neighboring gene myosin heavy chain 2 Neighboring gene myosin heavy chain 3 Neighboring gene Sharpr-MPRA regulatory region 5903 Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220 Neighboring gene mago homolog 2, pseudogene

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    GeneReviews: Not available
    Genome-wide and fine-resolution association analysis of malaria in West Africa.
    GeneReviews: Not available
    Mitochondrial complex 4 deficiency, nuclear type 4
    MedGen: C5436683 OMIM: 619048 GeneReviews: Not available
    Compare labs

    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 copper chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular copper ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial cytochrome c oxidase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial cytochrome c oxidase assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein SCO1 homolog, mitochondrial
    Names
    SCO cytochrome c oxidase assembly protein 1
    SCO cytochrome oxidase deficient homolog 1
    SCO1, cytochrome c oxidase assembly protein

    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_008228.2 RefSeqGene

      Range
      5001..22237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004589.4NP_004580.1  protein SCO1 homolog, mitochondrial

      See identical proteins and their annotated locations for NP_004580.1

      Status: REVIEWED

      Source sequence(s)
      AC002347, BC015504, BM981070, BM994602, DA571370, KC877631
      Consensus CDS
      CCDS11158.1
      UniProtKB/Swiss-Prot
      O75880
      Related
      ENSP00000255390.5, ENST00000255390.10
      Conserved Domains (1) summary
      cd02968
      Location:136278
      SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

    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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      10672474..10697533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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