COQ8B

Protein identityUniProt · HPA

UniProt accession

Q96D53

Gene

COQ8B

Ensembl

ENSG00000123815

Chromosome

19

Canonical length

544 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

544 residues, UniProt reviewed canonical sequence.

>Q96D53|COQ8B
     1  MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP GRGLGEEDIR
    61  RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV GLGLGVLAEM AKKSMPGGRL
   121  QSEGGSGLDS SPFLSEANAE RIVQTLCTVR GAALKVGQML SIQDNSFISP QLQHIFERVR
   181  QSADFMPRWQ MLRVLEEELG RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY
   241  PGIAQSIQSD VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL
   301  LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL LTLCLRELFE
   361  FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH YIEVVKAAAD GDRDCVLQKS
   421  RDLKFLTGFE TKAFSDAHVE AVMILGEPFA TQGPYDFGSG ETARRIQDLI PVLLRHRLCP
   481  PPEETYALHR KLAGAFLACA HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW
   541  VDPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ8B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ8B.

Disease | AllUniProt

Conditions COQ8B is implicated in, by any mechanism.

• Nephrotic syndrome 9 (NPHS9) MIM:615573

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 330 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Nephrotic syndrome, type 9
• Inborn genetic diseases
• Retinitis pigmentosa
• See cases
• Lung cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.11

gnomAD pLI

0

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cerebellar Purkinje cell layer morphogenesis
• ubiquinone biosynthetic process

Molecular functions

• ATP binding
• ATP hydrolysis activity
• lipid binding
• protein kinase activity

Cellular components

• cytosol
• mitochondrial membrane
• mitochondrion
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• ABC1 atypical kinase-like domain
• Protein kinase-like domain superfamily
• ADCK3-like domain
• Atypical kinase ADCK
• ABC1 atypical kinase-like domain

KeywordsUniProt

• ATP-binding
• Cell membrane
• Cytoplasm
• Kinase
• Membrane
• Mitochondrion
• Nucleotide-binding
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of COQ8B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COQ6
• COQ7