UniProtKB - Q96D53 (COQ8B_HUMAN)
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- BLAST>sp|Q96D53|COQ8B_HUMAN Atypical kinase COQ8B, mitochondrial OS=Homo sapiens OX=9606 GN=COQ8B PE=1 SV=2 MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIR RAREARPRKTPRPQLSDRSRERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRL QSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQMLSIQDNSFISPQLQHIFERVR QSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQY PGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQL LANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFE FRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKS RDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCP PPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSW VDPS
- Align
Atypical kinase COQ8B, mitochondrial
COQ8B
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
<p>This subsection of the ‘Function’ section describes an enzyme regulatory mechanism and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/enzyme_regulation' target='_top'>More...</a></p>Enzyme regulationi
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 219 | ATPBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 237 | ATPBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei | 367 | Proton acceptorBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 372 | ATPBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 386 | ATPBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi | 324 – 327 | ATPBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 4 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- kinase activity Source: UniProtKB-KW
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- cerebellar Purkinje cell layer morphogenesis Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- ubiquinone biosynthetic process Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Kinase, Transferase |
| Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BioCyc Collection of Pathway/Genome Databases More...BioCyci | MetaCyc:ENSG00000123815-MONOMER |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Atypical kinase COQ8B, mitochondrialCurated (EC:2.7.-.-By similarity<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi )Alternative name(s): AarF domain-containing protein kinase 4Imported <p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Coenzyme Q protein 8BCurated |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:COQ8BImported <p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Synonyms:ADCK4Imported <p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000123815.11 |
Human Gene Nomenclature Database More...HGNCi | HGNC:19041 COQ8B |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 615567 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q96D53 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Mitochondrion
- Mitochondrion membrane 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
- Mitochondrion membrane 1 Publication
Cytosol
- cytosol 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
- cytosol 1 Publication
Plasma membrane
- Cell membrane 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
- Cell membrane 1 Publication
Cytosol
- cytosol Source: UniProtKB-SubCell
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
- 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 |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 92 – 108 | HelicalSequence analysisAdd BLAST | 17 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cell membrane, Cytoplasm, Membrane, Mitochondrion<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Nephrotic syndrome 9 (NPHS9)2 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.9"ADCK4-associated glomerulopathy causes adolescence-onset FSGS."
PodoNet Consortium
Korkmaz E., Lipska-Zietkiewicz B.S., Boyer O., Gribouval O., Fourrage C., Tabatabaei M., Schnaidt S., Gucer S., Kaymaz F., Arici M., Dinckan A., Mir S., Bayazit A.K., Emre S., Balat A., Rees L., Shroff R., Bergmann C. , Mourani C., Antignac C., Ozaltin F., Schaefer F.
J. Am. Soc. Nephrol. 27:63-68(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 ARG-98; TRP-178; LEU-310 AND GLU-498.
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]
PodoNet Consortium
Korkmaz E., Lipska-Zietkiewicz B.S., Boyer O., Gribouval O., Fourrage C., Tabatabaei M., Schnaidt S., Gucer S., Kaymaz F., Arici M., Dinckan A., Mir S., Bayazit A.K., Emre S., Balat A., Rees L., Shroff R., Bergmann C. , Mourani C., Antignac C., Ozaltin F., Schaefer F.
J. Am. Soc. Nephrol. 27:63-68(2016) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076861 | 98 | L → R in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070552 | 178 | R → W in NPHS9. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070553 | 286 | D → G in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076862 | 310 | P → L in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070554 | 320 | R → W in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070555 | 343 | R → W in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070556 | 477 | R → Q in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076863 | 498 | A → E in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 79934 |
MalaCards human disease database More...MalaCardsi | COQ8B |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 615573 phenotype |
Open Targets More...OpenTargetsi | ENSG00000123815 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA134988974 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL5753 |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 1928 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | ADCK4 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 74731415 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000271797 | 1 – 544 | Atypical kinase COQ8B, mitochondrialAdd BLAST | 544 |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q96D53 |
MaxQB - The MaxQuant DataBase More...MaxQBi | Q96D53 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q96D53 |
PeptideAtlas More...PeptideAtlasi | Q96D53 |
PRoteomics IDEntifications database More...PRIDEi | Q96D53 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 76252 76253 [Q96D53-2] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q96D53 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q96D53 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000123815 |
CleanEx database of gene expression profiles More...CleanExi | HS_ADCK4 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q96D53 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q96D53 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA027229 HPA027277 HPA027279 HPA028303 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.4"A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3."
Khadria A.S., Mueller B.K., Stefely J.A., Tan C.H., Pagliarini D.J., Senes A.
J. Am. Chem. Soc. 136:14068-14077(2014) [PubMed] [Europe PMC] [Abstract]Cited for: SUBUNIT. - Ref.6"Mitochondrial protein interaction mapping identifies regulators of respiratory chain function."
Floyd B.J., Wilkerson E.M., Veling M.T., Minogue C.E., Xia C., Beebe E.T., Wrobel R.L., Cho H., Kremer L.S., Alston C.L., Gromek K.A., Dolan B.K., Ulbrich A., Stefely J.A., Bohl S.L., Werner K.M., Jochem A., Westphall M.S. , Rensvold J.W., Taylor R.W., Prokisch H., Kim J.J., Coon J.J., Pagliarini D.J.
Mol. Cell 63:621-632(2016) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH THE COQ ENZYME COMPLEX. - Ref.8"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 123009, 36 interactors |
Protein interaction database and analysis system More...IntActi | Q96D53, 3 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000315118 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q96D53 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q96D53 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q96D53 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 191 – 423 | Protein kinaseAdd BLAST | 233 |
Motif
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi | 155 – 158 | KxGQ motifBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 4 | |
| <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi | 216 – 219 | AAAS motifBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 4 |
<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG1234 Eukaryota COG0661 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00550000074739 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000201140 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG061318 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q96D53 |
KEGG Orthology (KO) More...KOi | K08869 |
Identification of Orthologs from Complete Genome Data More...OMAi | PLDKCFD |
Database of Orthologous Groups More...OrthoDBi | EOG091G02P9 |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q96D53 |
TreeFam database of animal gene trees More...TreeFami | TF300630 |
Family and domain databases
Conserved Domains Database More...CDDi | cd13970 ABC1_ADCK3, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR034646 ADCK3_UbiB IPR034638 COQ8B IPR011009 Kinase-like_dom_sf IPR004147 UbiB_dom |
The PANTHER Classification System More...PANTHERi | PTHR43851 PTHR43851, 1 hit PTHR43851:SF4 PTHR43851:SF4, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF03109 ABC1, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF56112 SSF56112, 2 hits |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
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
The sequence of this isoform differs from the canonical sequence as follows:
123-163: Missing.
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 QSDNSFISPQ LQHIFERVRQ SADFMPRWQM
160 170 180 190 200
LRVLEEELGR DWQAKVASLE EVPFAAASIG QVHQGLLRDG TEVAVKIQYP
210 220 230 240 250
GIAQSIQSDV QNLLAVLKMS AALPAGLFAE QSLQALQQEL AWECDYRREA
260 270 280 290 300
ACAQNFRQLL ANDPFFRVPA VVKELCTTRV LGMELAGGVP LDQCQGLSQD
310 320 330 340 350
LRNQICFQLL TLCLRELFEF RFMQTDPNWA NFLYDASSHQ VTLLDFGASR
360 370 380 390 400
EFGTEFTDHY IEVVKAAADG DRDCVLQKSR DLKFLTGFET KAFSDAHVEA
410 420 430 440 450
VMILGEPFAT QGPYDFGSGE TARRIQDLIP VLLRHRLCPP PEETYALHRK
460 470 480 490 500
LAGAFLACAH LRAHIACRDL FQDTYHRYWA SRQPDAATAG SLPTKGDSWV
DPS
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 164 – 166 | DNS → GTA in BAB14004 (PubMed:14702039).Curated | 3 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_041420 | 78 | R → C1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076861 | 98 | L → R in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029995 | 174 | H → R1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070552 | 178 | R → W in NPHS9. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070553 | 286 | D → G in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076862 | 310 | P → L in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_041421 | 318 | T → M1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070554 | 320 | R → W in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070555 | 343 | R → W in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_041422 | 352 | T → R1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_041423 | 462 | T → M1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070556 | 477 | R → Q in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076863 | 498 | A → E in NPHS9. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_022357 | 123 – 163 | Missing in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 41 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | BC013114 mRNA Translation: AAH13114.2 BC027473 mRNA Translation: AAH27473.1 AK022291 mRNA Translation: BAB14004.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS12562.1 [Q96D53-1] CCDS46081.1 [Q96D53-2] |
NCBI Reference Sequences More...RefSeqi | NP_001136027.1, NM_001142555.2 [Q96D53-2] NP_079152.3, NM_024876.3 [Q96D53-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.130712 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000243583; ENSP00000243583; ENSG00000123815 [Q96D53-2] ENST00000324464; ENSP00000315118; ENSG00000123815 [Q96D53-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 79934 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:79934 |
UCSC genome browser More...UCSCi | uc002ooq.3 human [Q96D53-1] |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q96D53 | Atypical kinase COQ8B, mitochondrial (Fragment) | 204 | |||
| Atypical kinase COQ8B, mitochondrial (Fragment) | 230 | ||||
| Atypical kinase COQ8B, mitochondrial (Fragment) | 110 | ||||
| Atypical kinase COQ8B, mitochondrial (Fragment) | 157 | ||||
| Atypical kinase COQ8B, mitochondrial (Fragment) | 149 | ||||
| +1 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q96D53 | Atypical kinase COQ8B, mitochondrial (Fragment) | 204 | |||
| Coenzyme Q8B | 637 | ||||
| UPI00083C0DF4 | 636 | ||||
| UPI00045DB235 | 607 | ||||
| UPI0003ABAB69 | 603 | ||||
| +45 | |||||
| Q96D53-2 | AarF domain containing kinase 4, isoform CRA_b | 503 | |||
| Coenzyme Q8B | 504 | ||||
| Coenzyme Q8B | 504 | ||||
| COQ8B isoform 3 | 503 | ||||
| Coenzyme Q8B | 503 | ||||
| +25 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q96D53 | Atypical kinase COQ8B, mitochondrial (Fragment) | 204 | |||
| Coenzyme Q8B | 637 | ||||
| UPI00083C0DF4 | 636 | ||||
| UPI00045DB235 | 607 | ||||
| UPI0003ABAB69 | 603 | ||||
| +188 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | BC013114 mRNA Translation: AAH13114.2 BC027473 mRNA Translation: AAH27473.1 AK022291 mRNA Translation: BAB14004.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS12562.1 [Q96D53-1] CCDS46081.1 [Q96D53-2] |
NCBI Reference Sequences More...RefSeqi | NP_001136027.1, NM_001142555.2 [Q96D53-2] NP_079152.3, NM_024876.3 [Q96D53-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.130712 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q96D53 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q96D53 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 123009, 36 interactors |
Protein interaction database and analysis system More...IntActi | Q96D53, 3 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000315118 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q96D53 |
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL5753 |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 1928 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q96D53 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q96D53 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | ADCK4 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 74731415 |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q96D53 |
MaxQB - The MaxQuant DataBase More...MaxQBi | Q96D53 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q96D53 |
PeptideAtlas More...PeptideAtlasi | Q96D53 |
PRoteomics IDEntifications database More...PRIDEi | Q96D53 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 76252 76253 [Q96D53-2] |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 79934 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000243583; ENSP00000243583; ENSG00000123815 [Q96D53-2] ENST00000324464; ENSP00000315118; ENSG00000123815 [Q96D53-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 79934 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:79934 |
UCSC genome browser More...UCSCi | uc002ooq.3 human [Q96D53-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 79934 |
DisGeNET More...DisGeNETi | 79934 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000123815.11 |
GeneCards: human genes, protein and diseases More...GeneCardsi | COQ8B |
Human Gene Nomenclature Database More...HGNCi | HGNC:19041 COQ8B |
Human Protein Atlas More...HPAi | HPA027229 HPA027277 HPA027279 HPA028303 |
MalaCards human disease database More...MalaCardsi | COQ8B |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 615567 gene 615573 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q96D53 |
Open Targets More...OpenTargetsi | ENSG00000123815 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA134988974 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG1234 Eukaryota COG0661 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00550000074739 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000201140 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG061318 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q96D53 |
KEGG Orthology (KO) More...KOi | K08869 |
Identification of Orthologs from Complete Genome Data More...OMAi | PLDKCFD |
Database of Orthologous Groups More...OrthoDBi | EOG091G02P9 |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q96D53 |
TreeFam database of animal gene trees More...TreeFami | TF300630 |
Enzyme and pathway databases
BioCyc Collection of Pathway/Genome Databases More...BioCyci | MetaCyc:ENSG00000123815-MONOMER |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | COQ8B human |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 79934 |
Protein Ontology More...PROi | PR:Q96D53 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000123815 |
CleanEx database of gene expression profiles More...CleanExi | HS_ADCK4 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q96D53 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q96D53 HS |
Family and domain databases
Conserved Domains Database More...CDDi | cd13970 ABC1_ADCK3, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR034646 ADCK3_UbiB IPR034638 COQ8B IPR011009 Kinase-like_dom_sf IPR004147 UbiB_dom |
The PANTHER Classification System More...PANTHERi | PTHR43851 PTHR43851, 1 hit PTHR43851:SF4 PTHR43851:SF4, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF03109 ABC1, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF56112 SSF56112, 2 hits |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | COQ8B_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q96D53Primary (citable) accession number: Q96D53 Secondary accession number(s): Q8TAJ1, Q9HA52 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 9, 2007 |
| Last sequence update: | October 1, 2002 | |
| Last modified: | June 20, 2018 | |
| This is version 131 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human and mouse protein kinases
Human and mouse protein kinases: classification and index - SIMILARITY comments
Index of protein domains and families
