Q8NI60 (ADCK3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 97.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Chaperone activity of bc1 complex-like, mitochondrial Short name=Chaperone-ABC1-like EC=2.7.11.- Alternative name(s): aarF domain-containing protein kinase 3 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 647 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain. |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle. |
| Induction | By p53/TP53. |
| Involvement in disease | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. |
| Sequence similarities | Belongs to the protein kinase superfamily. ADCK protein kinase family. Contains 1 protein kinase domain. |
| Caution | It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Neurodegeneration |
| Domain | Transit peptide |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Chaperone Kinase Serine/threonine-protein kinase Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell death Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine kinase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NI60-1) 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. | ||||||
| Isoform 2 (identifier: Q8NI60-2) The sequence of this isoform differs from the canonical sequence as follows: 1-484: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8NI60-3) The sequence of this isoform differs from the canonical sequence as follows: 1-52: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8NI60-4) The sequence of this isoform differs from the canonical sequence as follows: 1-279: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – ? | Mitochondrion Potential | |||||||
| Chain | ? – 647 | Chaperone activity of bc1 complex-like, mitochondrial | PRO_0000000262 | ||||||
Regions | |||||||||
| Domain | 329 – 518 | 190 | Protein kinase | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 484 | 484 | Missing in isoform 2. | VSP_022351 | |||||
| Alternative sequence | 1 – 279 | 279 | Missing in isoform 4. | VSP_022352 | |||||
| Alternative sequence | 1 – 52 | 52 | Missing in isoform 3. | VSP_022353 | |||||
| Natural variant | 85 | 1 | H → Q. Corresponds to variant rs2297411 [ dbSNP | Ensembl ]. | VAR_020319 | |||||
| Natural variant | 213 | 1 | R → W in COQ10D4. Ref.10 | VAR_044402 | |||||
| Natural variant | 272 | 1 | G → D in COQ10D4. Ref.10 | VAR_044403 | |||||
| Natural variant | 272 | 1 | G → V in COQ10D4. Ref.10 | VAR_044404 | |||||
| Natural variant | 341 | 1 | I → T. Ref.9 Corresponds to variant rs55798516 [ dbSNP | Ensembl ]. | VAR_045576 | |||||
| Natural variant | 514 | 1 | Y → C in COQ10D4. Ref.11 | VAR_044405 | |||||
| Natural variant | 549 | 1 | G → S in COQ10D4. Ref.11 | VAR_044406 | |||||
| Natural variant | 551 | 1 | E → K in COQ10D4. Ref.10 | VAR_044407 | |||||
| Natural variant | 584 | 1 | Missing in COQ10D4. Ref.11 | VAR_044408 | |||||
Experimental info | |||||||||
| Sequence conflict | 283 – 284 | 2 | IQ → VR in BAC11143. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex." Iiizumi M., Arakawa H., Mori T., Ando A., Nakamura Y. Cancer Res. 62:1246-1250(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION. |
| [2] | "Full length sequencing of some human and murine muscular transcript (Telethon Italy project B41)." Ievolella C., Stanchi F., Bertocco E., Millino C., Faulkner G., Valle G., Lanfranchi G. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Skeletal muscle. |
| [3] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Mammary gland. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Small intestine. |
| [6] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Uterus. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [9] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-341. |
| [10] | "CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures." Mollet J., Delahodde A., Serre V., Chretien D., Schlemmer D., Lombes A., Boddaert N., Desguerre I., de Lonlay P., de Baulny H.O., Munnich A., Roetig A. Am. J. Hum. Genet. 82:623-630(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COQ10D4 TRP-213; VAL-272; ASP-272 AND LYS-551. |
| [11] | "ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency." Lagier-Tourenne C., Tazir M., Lopez L.C., Quinzii C.M., Assoum M., Drouot N., Busso C., Makri S., Ali-Pacha L., Benhassine T., Anheim M., Lynch D.R., Thibault C., Plewniak F., Bianchetti L., Tranchant C., Poch O., DiMauro S. Koenig M.Am. J. Hum. Genet. 82:661-672(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COQ10D4 CYS-514; SER-549 AND THR-584 DEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB073905 mRNA. Translation: BAB91363.1. AJ278126 mRNA. Translation: CAC00482.1. AF218003 mRNA. Translation: AAG17245.1. AK074693 mRNA. Translation: BAC11143.1. BX648860 mRNA. Translation: CAH56132.1. AL353689 Genomic DNA. Translation: CAI19103.1. AL353689 Genomic DNA. Translation: CAI19105.1. BC005171 mRNA. Translation: AAH05171.2. |
| IPI | IPI00176469. IPI00641178. IPI00645029. IPI00909535. |
| RefSeq | NP_064632.2. NM_020247.4. |
| UniGene | Hs.118241. |
3D structure databases | |
| ProteinModelPortal | Q8NI60. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NI60. 5 interactions. |
| MINT | MINT-1479202. |
PTM databases | |
| PhosphoSite | Q8NI60. |
Polymorphism databases | |
| DMDM | 27923741. |
Proteomic databases | |
| PaxDb | Q8NI60. |
| PRIDE | Q8NI60. |
Protocols and materials databases | |
| DNASU | 56997. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000366777; ENSP00000355739; ENSG00000163050. ENST00000366778; ENSP00000355740; ENSG00000163050. ENST00000366779; ENSP00000355741; ENSG00000163050. ENST00000458507; ENSP00000403704; ENSG00000163050. |
| GeneID | 56997. |
| KEGG | hsa:56997. |
| UCSC | uc001hqm.1. human. uc009xer.1. human. |
Organism-specific databases | |
| CTD | 56997. |
| GeneCards | GC01P227087. |
| H-InvDB | HIX0001648. |
| HGNC | HGNC:16812. ADCK3. |
| HPA | HPA018217. |
| MIM | 606980. gene. 612016. phenotype. |
| neXtProt | NX_Q8NI60. |
| Orphanet | 139485. Autosomal recessive ataxia due to ubiquinone deficiency. |
| PharmGKB | PA25999. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0661. |
| HOGENOM | HOG000201140. |
| HOVERGEN | HBG061318. |
| InParanoid | Q8NI60. |
| KO | K08869. |
| OMA | GATREYD. |
| OrthoDB | EOG4K0QNB. |
| PhylomeDB | Q8NI60. |
Gene expression databases | |
| ArrayExpress | Q8NI60. |
| Bgee | Q8NI60. |
| CleanEx | HS_CABC1. |
| Genevestigator | Q8NI60. |
| GermOnline | ENSG00000163050. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011009. Kinase-like_dom. IPR004147. UbiB_dom. [Graphical view] |
| Pfam | PF03109. ABC1. 1 hit. [Graphical view] |
| SUPFAM | SSF56112. Kinase_like. 1 hit. |
| PROSITE | PS50011. PROTEIN_KINASE_DOM. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | Q8NI60. |
| ChEMBL | CHEMBL5550. |
| ChiTaRS | ADCK3. human. |
| GenomeRNAi | 56997. |
| NextBio | 62711. |
| SOURCE | Search... |
Entry information
| Entry name | ADCK3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NI60 Secondary accession number(s): Q5T7A5 Q9NQ67 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human and mouse protein kinases Human and mouse protein kinases: classification and index |
| Human chromosome 1 Human chromosome 1: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
