Sco1 SCO1 cytochrome c oxidase assembly protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sco1provided by MGI
Official Full Name: SCO1 cytochrome c oxidase assembly proteinprovided by MGI
Primary source: MGI:MGI:106362
See related: Ensembl:ENSMUSG00000069844 AllianceGenome:MGI:106362
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D11Bwg1310e; 2610001C07Rik
Summary: Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including cyclooxygenase pathway; mitochondrial cytochrome c oxidase assembly; and negative regulation of protein kinase B signaling. Located in mitochondrion. Is expressed in several structures, including genitourinary system; hemolymphoid system gland; liver; submandibular gland primordium; and vascular element. Used to study cytochrome-c oxidase deficiency disease. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease. Orthologous to human SCO1 (synthesis of cytochrome C oxidase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in large intestine adult (RPKM 3.2), colon adult (RPKM 2.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 40.59 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (66943473..66958270)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (67052600..67067444)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of hepatic ceruloplasmin ameliorates NAFLD via SCO1-AMPK-LKB1 complex.
Title: Downregulation of hepatic ceruloplasmin ameliorates NAFLD via SCO1-AMPK-LKB1 complex.
Our results demonstrated a novel role of SCO1 in modulating insulin sensitivity via the regulation of copper concentration in WAT and suggested a potential therapeutic target for T2DM.
Title: Synthesis of cytochrome c oxidase 1 (SCO1) inhibits insulin sensitivity by decreasing copper levels in adipocytes.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bwg1310e (e-PCR), detects polymorphism
- UniSTS:141725

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cyclooxygenase pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular copper ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular copper ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-transcriptional regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cytochrome-c oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myofibril	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: protein SCO1 homolog, mitochondrial

Names: SCO cytochrome oxidase deficient homolog 1

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.

mRNA and Protein(s)

NM_001040026.1 → NP_001035115.1 protein SCO1 homolog, mitochondrial

See identical proteins and their annotated locations for NP_001035115.1

Status: VALIDATED

Source sequence(s)

AK011251, AK018523, AK083729, AK139512

Consensus CDS

CCDS36183.1

UniProtKB/Swiss-Prot

Q3UTD6, Q5SUC9

UniProtKB/TrEMBL

Q5SUD5

Related

ENSMUSP00000090673.5, ENSMUST00000092996.5

Conserved Domains (1) summary

cd02968
Location:119 → 261

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

66943473..66958270

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533721.3 → XP_006533784.1 protein SCO1 homolog, mitochondrial isoform X1

Conserved Domains (1) summary

cd02968
Location:25 → 167

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 ...