Human Gene COQ8B (ENST00000324464.8) from GENCODE V44
  Description: Homo sapiens coenzyme Q8B (COQ8B), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024876)
RefSeq Summary (NM_024876): 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].
Gencode Transcript: ENST00000324464.8
Gencode Gene: ENSG00000123815.13
Transcript (Including UTRs)
   Position: hg38 chr19:40,691,530-40,716,886 Size: 25,357 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr19:40,692,035-40,714,632 Size: 22,598 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:40,691,530-40,716,886)mRNA (may differ from genome)Protein (544 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADCK4_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized aarF domain-containing protein kinase 4; EC=2.7.11.-;
FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
SIMILARITY: Belongs to the protein kinase superfamily. ADCK protein kinase family.
SIMILARITY: Contains 1 protein kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COQ8B
Diseases sorted by gene-association score: nephrotic syndrome, type 9* (1300), glomerulosclerosis, focal segmental, 1* (90), nephrotic syndrome (17)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.96 RPKM in Pituitary
Total median expression: 555.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.60303-0.322 Picture PostScript Text
3' UTR -213.10505-0.422 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR004147 - UbiB_dom

Pfam Domains:
PF03109 - ABC1 family

ModBase Predicted Comparative 3D Structure on Q96D53
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0004672 protein kinase activity

Biological Process:
GO:0006744 ubiquinone biosynthetic process
GO:0016310 phosphorylation
GO:0021692 cerebellar Purkinje cell layer morphogenesis
GO:0006468 protein phosphorylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  BC013114 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone MGC:16884 IMAGE:4342891), complete cds.
AF052122 - Homo sapiens clone 23929 mRNA sequence.
AK057199 - Homo sapiens cDNA FLJ32637 fis, clone SYNOV2000291, weakly similar to Arabinogalactan-like protein.
BC013884 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone IMAGE:3678971), partial cds.
BC027473 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone MGC:36739 IMAGE:4997823), complete cds.
JD519145 - Sequence 500169 from Patent EP1572962.
JD150313 - Sequence 131337 from Patent EP1572962.
JD419446 - Sequence 400470 from Patent EP1572962.
JD131503 - Sequence 112527 from Patent EP1572962.
JD475379 - Sequence 456403 from Patent EP1572962.
JD255463 - Sequence 236487 from Patent EP1572962.
JD215898 - Sequence 196922 from Patent EP1572962.
JD040648 - Sequence 21672 from Patent EP1572962.
JD385134 - Sequence 366158 from Patent EP1572962.
JD157595 - Sequence 138619 from Patent EP1572962.
JD142830 - Sequence 123854 from Patent EP1572962.
JD396395 - Sequence 377419 from Patent EP1572962.
JD079705 - Sequence 60729 from Patent EP1572962.
JD123554 - Sequence 104578 from Patent EP1572962.
JD105086 - Sequence 86110 from Patent EP1572962.
KJ899597 - Synthetic construct Homo sapiens clone ccsbBroadEn_08991 ADCK4 gene, encodes complete protein.
KJ899598 - Synthetic construct Homo sapiens clone ccsbBroadEn_08992 ADCK4 gene, encodes complete protein.
KJ905542 - Synthetic construct Homo sapiens clone ccsbBroadEn_15158 ADCK4 gene, encodes complete protein.
DQ891691 - Synthetic construct clone IMAGE:100004321; FLH180066.01X; RZPDo839F07132D aarF domain containing kinase 4 (ADCK4) gene, encodes complete protein.
DQ894874 - Synthetic construct Homo sapiens clone IMAGE:100009334; FLH180062.01L; RZPDo839F07131D aarF domain containing kinase 4 (ADCK4) gene, encodes complete protein.
CU680508 - Synthetic construct Homo sapiens gateway clone IMAGE:100017398 5' read ADCK4 mRNA.
DQ601244 - Homo sapiens piRNA piR-39310, complete sequence.
AK022291 - Homo sapiens cDNA FLJ12229 fis, clone MAMMA1001181, weakly similar to ABC1 PROTEIN HOMOLOG PRECURSOR.
JD118439 - Sequence 99463 from Patent EP1572962.
JD223778 - Sequence 204802 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ADCK4, ADCK4_HUMAN, ENST00000324464.1, ENST00000324464.2, ENST00000324464.3, ENST00000324464.4, ENST00000324464.5, ENST00000324464.6, ENST00000324464.7, NM_024876, Q8TAJ1, Q96D53, Q9HA52, uc002oor.1, uc002oor.2, uc002oor.3
UCSC ID: ENST00000324464.8
RefSeq Accession: NM_024876
Protein: Q96D53 (aka ADCK4_HUMAN)
CCDS: CCDS12562.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ8B:
coq10-def (Primary Coenzyme Q10 Deficiency Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.