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COQ8B coenzyme Q8B [ Homo sapiens (human) ]

Gene ID: 79934, updated on 19-Sep-2024

Summary

Official Symbol
COQ8Bprovided by HGNC
Official Full Name
coenzyme Q8Bprovided by HGNC
Primary source
HGNC:HGNC:19041
See related
Ensembl:ENSG00000123815 MIM:615567; AllianceGenome:HGNC:19041
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
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Genomic context

See COQ8B in Genome Data Viewer
Location:
19q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40691530..40716886, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43512196..43537578, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41197435..41222791, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41196725-41197662 Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41224841-41225542 Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41249947-41250913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41250914-41251879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41255833-41256458 Neighboring gene actin maturation protease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12229

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables lipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cerebellar Purkinje cell layer morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ubiquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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

  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/TrEMBL
    M0R0L2
    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
    Q8TAJ1, Q96D53, Q9HA52
    UniProtKB/TrEMBL
    M0R0L2
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    43512196..43537578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)