Coq8a coenzyme Q8A [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Coq8aprovided by RGD
Official Full Name: coenzyme Q8Aprovided by RGD
Primary source: RGD:1308245
See related: EnsemblRapid:ENSRNOG00000043201 AllianceGenome:RGD:1308245
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Adck3; Cabc1
Summary: Predicted to enable ADP binding activity and kinase activity. Predicted to be involved in phosphorylation and ubiquinone biosynthetic process. Predicted to be located in mitochondrion. 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: Biased expression in Muscle (RPKM 2146.4), Liver (RPKM 1093.1) and 5 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 13q26

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	13	NC_086031.1 (94436680..94465535, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	13	NC_051348.1 (91904731..91933588, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	13	NC_005112.4 (98451629..98480438, complement)

Chromosome 13 - NC_086031.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results indicate that CABC1 is an important candidate for mutation analysis in progressive cerebellar ataxia and atrophy on MRI to identify those patients who may benefit from CoQ10 treatment.
Title: Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

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	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	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity 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_001013185.1 → NP_001013203.1 atypical kinase COQ8A, mitochondrial

See identical proteins and their annotated locations for NP_001013203.1

Status: VALIDATED

Source sequence(s)

BC091388

UniProtKB/Swiss-Prot

Q5BJQ0

UniProtKB/TrEMBL

A0A8L2R303, A6JGG2

Related

ENSRNOP00000036948.4, ENSRNOT00000030135.6

Conserved Domains (1) summary

cd13970
Location:296 → 546

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
NM_001429620.1 → NP_001416549.1 atypical kinase COQ8A, mitochondrial

Status: VALIDATED

Source sequence(s)

JAXUCZ010000013

UniProtKB/Swiss-Prot

Q5BJQ0

UniProtKB/TrEMBL

A0A8L2R303, A6JGG2

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086031.1 Reference GRCr8

Range

94436680..94465535 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006250387.2 → XP_006250449.1 atypical kinase COQ8A, mitochondrial isoform X1

Conserved Domains (1) summary

cd13970
Location:296 → 546

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