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COQ8B coenzyme Q8B [ Homo sapiens (human) ]

Gene ID: 79934, updated on 7-Jun-2020

Summary

Official Symbol
COQ8Bprovided by HGNC
Official Full Name
coenzyme Q8Bprovided by HGNC
Primary source
HGNC:HGNC:19041
See related
Ensembl:ENSG00000123815 MIM:615567
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
ADCK4; NPHS9
Summary
This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in prostate (RPKM 8.5), testis (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See COQ8B in Genome Data Viewer
Location:
19q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40691530..40716886, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41197434..41222790, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene chromosome 19 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide A

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
Nephrotic syndrome, type 9
MedGen: C3809965 OMIM: 615573 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12229

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cerebellar Purkinje cell layer morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
atypical kinase COQ8B, mitochondrial
Names
aarF domain containing kinase 4
aarF domain-containing protein kinase 4
coenzyme Q protein 8B

NCBI Reference Sequences (RefSeq)

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_027800.1 RefSeqGene

    Range
    5000..30356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142555.3NP_001136027.1  atypical kinase COQ8B, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001136027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC010412, BC027473, CA397752
    Consensus CDS
    CCDS46081.1
    UniProtKB/Swiss-Prot
    Q96D53
    UniProtKB/TrEMBL
    A0A024R0Q9
    Related
    ENSP00000243583.5, ENST00000243583.10
    Conserved Domains (2) summary
    COG0661
    Location:127471
    AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]
    cd13970
    Location:134383
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  2. NM_024876.4NP_079152.3  atypical kinase COQ8B, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_079152.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC010412, AU121879, BC013114, BC013884
    Consensus CDS
    CCDS12562.1
    UniProtKB/Swiss-Prot
    Q96D53
    Related
    ENSP00000315118.3, ENST00000324464.8
    Conserved Domains (1) summary
    cd13970
    Location:175424
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40691530..40716886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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