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SCO1 SCO1 cytochrome c oxidase assembly protein [ Homo sapiens (human) ]

Gene ID: 6341, updated on 26-May-2016
Official Symbol
SCO1provided by HGNC
Official Full Name
SCO1 cytochrome c oxidase assembly proteinprovided by HGNC
Primary source
HGNC:HGNC:10603
See related
Ensembl:ENSG00000133028 HPRD:04705; MIM:603644; Vega:OTTHUMG00000130364
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
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]
Orthologs
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (10680332..10697568, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10583649..10600885, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin, heavy chain 2, skeletal muscle, adult Neighboring gene myosin, heavy chain 3, skeletal muscle, embryonic Neighboring gene uncharacterized LOC105371534 Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220 Neighboring gene mago homolog 2, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cytochrome-c oxidase deficiency
MedGen: C0268237 OMIM: 220110 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
Genome-wide and fine-resolution association analysis of malaria in West Africa.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular copper ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
copper ion transport IEA
Inferred from Electronic Annotation
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
respiratory chain complex IV assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
host cell mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
myofibril IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein SCO1 homolog, mitochondrial
Names
SCO cytochrome oxidase deficient homolog 1

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_004589.3NP_004580.1  protein SCO1 homolog, mitochondrial

    See identical proteins and their annotated locations for NP_004580.1

    Status: REVIEWED

    Source sequence(s)
    BC015504, BM981070, BM994602, DA571370, KC877631
    Consensus CDS
    CCDS11158.1
    UniProtKB/Swiss-Prot
    O75880
    Related
    ENSP00000255390, OTTHUMP00000160897, ENST00000255390, OTTHUMT00000252729
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    10680332..10697568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256751.2XP_005256808.1  

    See identical proteins and their annotated locations for XP_005256808.1

    UniProtKB/Swiss-Prot
    O75880
    Conserved Domains (1) summary
    cd02968
    Location:25167
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    10593847..10611094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)