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

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; AllianceGenome:HGNC:10603
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: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (10672474..10697533, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10580025..10605085, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10575791..10600850, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results find that COA6 associates with COX2 and is crucial for its maturation and complex IV biogenesis. Also, COA6 interacts with the copper chaperone SCO1 which indicates that COA6 is intrinsically involved in the copper delivery process for COX2.
Title: COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
Sco1 is a metallochaperone that selectively transfers Cu(I) ions based on loop recognition, whereas Sco2 is a copper-dependent thiol reductase of the cysteine ligands in the oxidase.
Title: Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuA in human cytochrome oxidase.
COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Title: Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
COX19 is necessary for the transduction of a SCO1-dependent mitochondrial redox signal that regulates ATP7A-mediated cellular copper efflux.
Title: COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Results describe the tissue distribution of SCO1 and SCO2 in mouse and human tissues.
Title: Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
SCO2 acts upstream of SCO1, and that it is indispensable for CO II synthesis.
Title: Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
a fraction of Sco1 physically associates with the cytochrome c oxidase complex in human muscle mitochondria, suggesting a possible direct relationship between CcO and the regulation of cellular copper homeostasis
Title: Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Cu(I)HCox17(2S-S), i.e., the copper-loaded form of the protein, can transfer simultaneously copper(I) and two electrons to the human cochaperone Sco1 (HSco1) in the oxidized state, i.e., with its metal-binding cysteines forming a disulfide bond.
Title: Mitochondrial copper(I) transfer from Cox17 to Sco1 is coupled to electron transfer.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 4 deficiency, nuclear type 4 MedGen: C5436683 OMIM: 619048 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide and fine-resolution association analysis of malaria in West Africa. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC2RC052 (e-PCR)
- UniSTS:41250

WI-14254 (e-PCR)
- UniSTS:83535

SCO1_8613 (e-PCR)
- UniSTS:467871

RH78578 (e-PCR)
- UniSTS:30880

G20832 (e-PCR)
- UniSTS:7345

A006I06 (e-PCR)
- UniSTS:7346

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 intracellular 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
involved_in mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 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

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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

NG_008228.2 RefSeqGene

Range

5001..22237

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004589.4 → NP_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

B2RDM0, O75880

UniProtKB/TrEMBL

J3QL56

Related

ENSP00000255390.5, ENST00000255390.10

Conserved Domains (1) summary

cd02968
Location:136 → 278

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 ...