Coq8a coenzyme Q8A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Coq8aprovided by MGI
Official Full Name: coenzyme Q8Aprovided by MGI
Primary source: MGI:MGI:1914676
See related: Ensembl:ENSMUSG00000026489 AllianceGenome:MGI:1914676
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: Adck3; Cabc1; mKIAA0451; 4632432J16Rik
Summary: Predicted to enable ADP binding activity and kinase activity. Predicted to be involved in phosphorylation and ubiquinone biosynthetic process. Located in mitochondrion. Is expressed in heart and heart right ventricle. Used to study primary coenzyme Q10 deficiency 4. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 4. Orthologous to human COQ8A (coenzyme Q8A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in heart adult (RPKM 105.5), liver adult (RPKM 98.7) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H4; 1 84.15 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (179992803..180023585, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (180165238..180196020, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency.
Title: Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI462003 (e-PCR)
- UniSTS:165127

NoName (e-PCR)
- UniSTS:234278

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	ISO Inferred from Sequence Orthology more info
enables kinase activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquinone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ubiquinone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: atypical kinase COQ8A, mitochondrial

Names: aarF domain containing kinase 3; aarF domain-containing protein kinase 3; atypical kinase ADCK3, mitochondrial; chaperone activity of bc1 complex-like, mitochondrial; chaperone, ABC1 activity of bc1 complex like; coenzyme Q protein 8A

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_001163290.1 → NP_001156762.1 atypical kinase COQ8A, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_001156762.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC132436

Consensus CDS

CCDS15566.1

UniProtKB/Swiss-Prot

Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3

Related

ENSMUSP00000128290.2, ENSMUST00000170472.8

Conserved Domains (1) summary

cd13970
Location:292 → 542

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
NM_001359268.1 → NP_001346197.1 atypical kinase COQ8A, mitochondrial isoform 2

Status: VALIDATED

Source sequence(s)

AC132436

Conserved Domains (1) summary

cd13970
Location:252 → 502

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
NM_001359269.1 → NP_001346198.1 atypical kinase COQ8A, mitochondrial isoform 3

Status: VALIDATED

Source sequence(s)

AC132436

Conserved Domains (1) summary

cd13970
Location:158 → 408

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
NM_023341.3 → NP_075830.2 atypical kinase COQ8A, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_075830.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC132436, AK004791, AK014605, BY261815

Consensus CDS

CCDS15566.1

UniProtKB/Swiss-Prot

Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3

Related

ENSMUSP00000027766.7, ENSMUST00000027766.13

Conserved Domains (1) summary

cd13970
Location:292 → 542

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

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_000067.7 Reference GRCm39 C57BL/6J

Range

179992803..180023585 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496962.2 → XP_006497025.1 atypical kinase COQ8A, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_006497025.1

UniProtKB/Swiss-Prot

Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3

Conserved Domains (1) summary

cd13970
Location:292 → 542

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
XM_006496961.2 → XP_006497024.1 atypical kinase COQ8A, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_006497024.1

UniProtKB/Swiss-Prot

Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3

Conserved Domains (1) summary

cd13970
Location:292 → 542

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3