UniProtKB - Q96D53 (COQ8B_HUMAN)
Atypical kinase COQ8B, mitochondrial
COQ8B
Functioni
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420).
Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).
By similarity1 PublicationActivity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 219 | ATPBy similarity | 1 | |
Binding sitei | 237 | ATPBy similarity | 1 | |
Active sitei | 367 | Proton acceptorBy similarity | 1 | |
Binding sitei | 372 | ATPBy similarity | 1 | |
Binding sitei | 386 | ATPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 324 – 327 | ATPBy similarity | 4 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: FlyBase
- kinase activity Source: GO_Central
- lipid binding Source: FlyBase
GO - Biological processi
- cerebellar Purkinje cell layer morphogenesis Source: UniProtKB
- ubiquinone biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Kinase, Transferase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96D53 |
SignaLinki | Q96D53 |
Names & Taxonomyi
Protein namesi | Recommended name: Atypical kinase COQ8B, mitochondrialCurated (EC:2.7.-.-By similarity)Alternative name(s): AarF domain-containing protein kinase 4Imported Coenzyme Q protein 8BCurated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19041, COQ8B |
MIMi | 615567, gene |
neXtProti | NX_Q96D53 |
VEuPathDBi | HostDB:ENSG00000123815 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane 1 Publication; Single-pass membrane protein 1 Publication
Plasma membrane
- Cell membrane 1 Publication
Cytoplasm and Cytosol
- cytosol 1 Publication
Cytosol
- cytosol Source: UniProtKB-SubCell
Mitochondrion
- extrinsic component of mitochondrial inner membrane Source: GO_Central
- mitochondrion Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 92 – 108 | HelicalSequence analysisAdd BLAST | 17 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Nephrotic syndrome 9 (NPHS9)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076861 | 98 | L → R in NPHS9. 1 Publication | 1 | |
Natural variantiVAR_070552 | 178 | R → W in NPHS9. 2 PublicationsCorresponds to variant dbSNP:rs398122978EnsemblClinVar. | 1 | |
Natural variantiVAR_070553 | 286 | D → G in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122979EnsemblClinVar. | 1 | |
Natural variantiVAR_076862 | 310 | P → L in NPHS9. 1 Publication | 1 | |
Natural variantiVAR_070554 | 320 | R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs369573693EnsemblClinVar. | 1 | |
Natural variantiVAR_070555 | 343 | R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122981EnsemblClinVar. | 1 | |
Natural variantiVAR_070556 | 477 | R → Q in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs1057519347EnsemblClinVar. | 1 | |
Natural variantiVAR_076863 | 498 | A → E in NPHS9. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 79934 |
GeneReviewsi | COQ8B |
MalaCardsi | COQ8B |
MIMi | 615573, phenotype |
OpenTargetsi | ENSG00000123815 |
Orphaneti | 656, Genetic steroid-resistant nephrotic syndrome |
PharmGKBi | PA134988974 |
Miscellaneous databases
Pharosi | Q96D53, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5753 |
DrugBanki | DB12010, Fostamatinib |
DrugCentrali | Q96D53 |
Genetic variation databases
BioMutai | COQ8B |
DMDMi | 74731415 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000271797 | 1 – 544 | Atypical kinase COQ8B, mitochondrialAdd BLAST | 544 |
Proteomic databases
EPDi | Q96D53 |
jPOSTi | Q96D53 |
MassIVEi | Q96D53 |
MaxQBi | Q96D53 |
PaxDbi | Q96D53 |
PeptideAtlasi | Q96D53 |
PRIDEi | Q96D53 |
ProteomicsDBi | 76252 [Q96D53-1] 76253 [Q96D53-2] |
PTM databases
iPTMneti | Q96D53 |
PhosphoSitePlusi | Q96D53 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000123815, Expressed in adenohypophysis and 191 other tissues |
ExpressionAtlasi | Q96D53, baseline and differential |
Genevisiblei | Q96D53, HS |
Organism-specific databases
HPAi | ENSG00000123815, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 123009, 127 interactors |
IntActi | Q96D53, 64 interactors |
MINTi | Q96D53 |
STRINGi | 9606.ENSP00000315118 |
Chemistry databases
BindingDBi | Q96D53 |
Miscellaneous databases
RNActi | Q96D53, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 191 – 423 | Protein kinaseAdd BLAST | 233 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 45 – 86 | DisorderedSequence analysisAdd BLAST | 42 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 155 – 158 | KxGQ motifBy similarity | 4 | |
Motifi | 216 – 219 | AAAS motifBy similarity | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 51 – 86 | Basic and acidic residuesSequence analysisAdd BLAST | 36 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1234, Eukaryota |
GeneTreei | ENSGT01040000241091 |
HOGENOMi | CLU_006533_9_0_1 |
InParanoidi | Q96D53 |
OMAi | KFHQDGP |
OrthoDBi | 525494at2759 |
PhylomeDBi | Q96D53 |
TreeFami | TF300630 |
Family and domain databases
CDDi | cd13970, ABC1_ADCK3, 1 hit |
InterProi | View protein in InterPro IPR004147, ABC1_dom IPR034646, ADCK3_dom IPR034638, COQ8B IPR011009, Kinase-like_dom_sf |
PANTHERi | PTHR43851:SF4, PTHR43851:SF4, 1 hit |
Pfami | View protein in Pfam PF03109, ABC1, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP
60 70 80 90 100
GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV
110 120 130 140 150
GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR
160 170 180 190 200
GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG
210 220 230 240 250
RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD
260 270 280 290 300
VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL
310 320 330 340 350
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL
360 370 380 390 400
LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH
410 420 430 440 450
YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA
460 470 480 490 500
TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA
510 520 530 540
HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS
Computationally mapped potential isoform sequencesi
There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0R0L2 | M0R0L2_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 518 | Annotation score: | ||
M0R011 | M0R011_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 230 | Annotation score: | ||
M0R3F7 | M0R3F7_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 157 | Annotation score: | ||
M0R307 | M0R307_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 110 | Annotation score: | ||
M0R340 | M0R340_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 121 | Annotation score: | ||
M0QZZ2 | M0QZZ2_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 149 | Annotation score: | ||
A0A7I2V3G8 | A0A7I2V3G8_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 393 | Annotation score: | ||
M0R001 | M0R001_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 204 | Annotation score: | ||
M0R0F4 | M0R0F4_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 115 | Annotation score: | ||
A0A7I2V4Z6 | A0A7I2V4Z6_HUMAN | Atypical kinase COQ8B, mitochondria... | COQ8B | 336 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 164 – 166 | DNS → GTA in BAB14004 (PubMed:14702039).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041420 | 78 | R → C1 PublicationCorresponds to variant dbSNP:rs11538384EnsemblClinVar. | 1 | |
Natural variantiVAR_076861 | 98 | L → R in NPHS9. 1 Publication | 1 | |
Natural variantiVAR_029995 | 174 | H → R1 PublicationCorresponds to variant dbSNP:rs3865452EnsemblClinVar. | 1 | |
Natural variantiVAR_070552 | 178 | R → W in NPHS9. 2 PublicationsCorresponds to variant dbSNP:rs398122978EnsemblClinVar. | 1 | |
Natural variantiVAR_070553 | 286 | D → G in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122979EnsemblClinVar. | 1 | |
Natural variantiVAR_076862 | 310 | P → L in NPHS9. 1 Publication | 1 | |
Natural variantiVAR_041421 | 318 | T → M1 PublicationCorresponds to variant dbSNP:rs55899516Ensembl. | 1 | |
Natural variantiVAR_070554 | 320 | R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs369573693EnsemblClinVar. | 1 | |
Natural variantiVAR_070555 | 343 | R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122981EnsemblClinVar. | 1 | |
Natural variantiVAR_041422 | 352 | T → R1 PublicationCorresponds to variant dbSNP:rs36012476EnsemblClinVar. | 1 | |
Natural variantiVAR_041423 | 462 | T → M1 PublicationCorresponds to variant dbSNP:rs56083906Ensembl. | 1 | |
Natural variantiVAR_070556 | 477 | R → Q in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs1057519347EnsemblClinVar. | 1 | |
Natural variantiVAR_076863 | 498 | A → E in NPHS9. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022357 | 123 – 163 | Missing in isoform 2. 1 PublicationAdd BLAST | 41 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC013114 mRNA Translation: AAH13114.2 BC027473 mRNA Translation: AAH27473.1 AK022291 mRNA Translation: BAB14004.1 |
CCDSi | CCDS12562.1 [Q96D53-1] CCDS46081.1 [Q96D53-2] |
RefSeqi | NP_001136027.1, NM_001142555.2 [Q96D53-2] NP_079152.3, NM_024876.3 [Q96D53-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC013114 mRNA Translation: AAH13114.2 BC027473 mRNA Translation: AAH27473.1 AK022291 mRNA Translation: BAB14004.1 |
CCDSi | CCDS12562.1 [Q96D53-1] CCDS46081.1 [Q96D53-2] |
RefSeqi | NP_001136027.1, NM_001142555.2 [Q96D53-2] NP_079152.3, NM_024876.3 [Q96D53-1] |
3D structure databases
AlphaFoldDBi | Q96D53 |
SMRi | Q96D53 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123009, 127 interactors |
IntActi | Q96D53, 64 interactors |
MINTi | Q96D53 |
STRINGi | 9606.ENSP00000315118 |
Chemistry databases
BindingDBi | Q96D53 |
ChEMBLi | CHEMBL5753 |
DrugBanki | DB12010, Fostamatinib |
DrugCentrali | Q96D53 |
PTM databases
iPTMneti | Q96D53 |
PhosphoSitePlusi | Q96D53 |
Genetic variation databases
BioMutai | COQ8B |
DMDMi | 74731415 |
Proteomic databases
EPDi | Q96D53 |
jPOSTi | Q96D53 |
MassIVEi | Q96D53 |
MaxQBi | Q96D53 |
PaxDbi | Q96D53 |
PeptideAtlasi | Q96D53 |
PRIDEi | Q96D53 |
ProteomicsDBi | 76252 [Q96D53-1] 76253 [Q96D53-2] |
Protocols and materials databases
Antibodypediai | 30619, 238 antibodies from 28 providers |
DNASUi | 79934 |
Genome annotation databases
Organism-specific databases
CTDi | 79934 |
DisGeNETi | 79934 |
GeneCardsi | COQ8B |
GeneReviewsi | COQ8B |
HGNCi | HGNC:19041, COQ8B |
HPAi | ENSG00000123815, Low tissue specificity |
MalaCardsi | COQ8B |
MIMi | 615567, gene 615573, phenotype |
neXtProti | NX_Q96D53 |
OpenTargetsi | ENSG00000123815 |
Orphaneti | 656, Genetic steroid-resistant nephrotic syndrome |
PharmGKBi | PA134988974 |
VEuPathDBi | HostDB:ENSG00000123815 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1234, Eukaryota |
GeneTreei | ENSGT01040000241091 |
HOGENOMi | CLU_006533_9_0_1 |
InParanoidi | Q96D53 |
OMAi | KFHQDGP |
OrthoDBi | 525494at2759 |
PhylomeDBi | Q96D53 |
TreeFami | TF300630 |
Enzyme and pathway databases
PathwayCommonsi | Q96D53 |
SignaLinki | Q96D53 |
Miscellaneous databases
BioGRID-ORCSi | 79934, 18 hits in 1110 CRISPR screens |
ChiTaRSi | COQ8B, human |
GenomeRNAii | 79934 |
Pharosi | Q96D53, Tchem |
PROi | PR:Q96D53 |
RNActi | Q96D53, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123815, Expressed in adenohypophysis and 191 other tissues |
ExpressionAtlasi | Q96D53, baseline and differential |
Genevisiblei | Q96D53, HS |
Family and domain databases
CDDi | cd13970, ABC1_ADCK3, 1 hit |
InterProi | View protein in InterPro IPR004147, ABC1_dom IPR034646, ADCK3_dom IPR034638, COQ8B IPR011009, Kinase-like_dom_sf |
PANTHERi | PTHR43851:SF4, PTHR43851:SF4, 1 hit |
Pfami | View protein in Pfam PF03109, ABC1, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | COQ8B_HUMAN | |
Accessioni | Q96D53Primary (citable) accession number: Q96D53 Secondary accession number(s): Q8TAJ1, Q9HA52 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 9, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 154 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families