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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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