Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8NI60

- ADCK3_HUMAN

UniProt

Q8NI60 - ADCK3_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Chaperone activity of bc1 complex-like, mitochondrial

Gene

ADCK3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.1 Publication

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. protein serine/threonine kinase activity Source: UniProtKB-KW

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. ubiquinone biosynthetic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Chaperone activity of bc1 complex-like, mitochondrial (EC:2.7.11.-)
Short name:
Chaperone-ABC1-like
Alternative name(s):
aarF domain-containing protein kinase 3
Gene namesi
Name:ADCK3
Synonyms:CABC1
ORF Names:PP265
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:16812. ADCK3.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti213 – 2131R → W in COQ10D4. 1 Publication
VAR_044402
Natural varianti272 – 2721G → D in COQ10D4. 1 Publication
VAR_044403
Natural varianti272 – 2721G → V in COQ10D4. 1 Publication
VAR_044404
Natural varianti514 – 5141Y → C in COQ10D4. 1 Publication
VAR_044405
Natural varianti549 – 5491G → S in COQ10D4. 1 Publication
VAR_044406
Natural varianti551 – 5511E → K in COQ10D4. 1 Publication
VAR_044407
Natural varianti584 – 5841Missing in COQ10D4. 1 Publication
VAR_044408

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi612016. phenotype.
Orphaneti139485. Autosomal recessive ataxia due to ubiquinone deficiency.
PharmGKBiPA25999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 647Chaperone activity of bc1 complex-like, mitochondrialPRO_0000000262
Transit peptidei1 – ?MitochondrionSequence Analysis

Proteomic databases

MaxQBiQ8NI60.
PaxDbiQ8NI60.
PRIDEiQ8NI60.

PTM databases

PhosphoSiteiQ8NI60.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.1 Publication

Inductioni

By p53/TP53.

Gene expression databases

BgeeiQ8NI60.
CleanExiHS_CABC1.
ExpressionAtlasiQ8NI60. baseline and differential.
GenevestigatoriQ8NI60.

Organism-specific databases

HPAiHPA018217.

Interactioni

Protein-protein interaction databases

BioGridi121312. 8 interactions.
IntActiQ8NI60. 7 interactions.
MINTiMINT-1479202.

Structurei

3D structure databases

ProteinModelPortaliQ8NI60.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini329 – 518190Protein kinaseAdd
BLAST

Sequence similaritiesi

Contains 1 protein kinase domain.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0661.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ8NI60.
KOiK08869.
OMAiHQDQSPV.
OrthoDBiEOG7X9G6H.
PhylomeDBiQ8NI60.
TreeFamiTF300630.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NI60-1) [UniParc]FASTAAdd 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.

« Hide

        10         20         30         40         50
MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ
60 70 80 90 100
IGMFLGKVQG QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD
110 120 130 140 150
QSAPPSLGHA HSEGPAPAYV ASGPFREAGF PGQASSPLGR ANGRLFANPR
160 170 180 190 200
DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK ARQAKARPEN KQHKQTLSEH
210 220 230 240 250
ARERKVPVTR IGRLANFGGL AVGLGFGALA EVAKKSLRSE DPSGKKAVLG
260 270 280 290 300
SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV
310 320 330 340 350
RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK
360 370 380 390 400
GGREVAMKIQ YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR
410 420 430 440 450
ELALECDYQR EAACARKFRD LLKGHPFFYV PEIVDELCSP HVLTTELVSG
460 470 480 490 500
FPLDQAEGLS QEIRNEICYN ILVLCLRELF EFHFMQTDPN WSNFFYDPQQ
510 520 530 540 550
HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK SIEMKFLTGY
560 570 580 590 600
EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
610 620 630 640
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ
Length:647
Mass (Da):71,950
Last modified:October 1, 2002 - v1
Checksum:iDEF8F022027BF6CC
GO
Isoform 2 (identifier: Q8NI60-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-484: Missing.

Note: No experimental confirmation available.

Show »
Length:163
Mass (Da):18,937
Checksum:iA309AB9DDBE67C56
GO
Isoform 3 (identifier: Q8NI60-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Note: No experimental confirmation available.

Show »
Length:595
Mass (Da):66,627
Checksum:i83F12FA56BCB190E
GO
Isoform 4 (identifier: Q8NI60-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-279: Missing.

Note: No experimental confirmation available.

Show »
Length:368
Mass (Da):42,537
Checksum:i8522AEA0D7547110
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti283 – 2842IQ → VR in BAC11143. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851H → Q.
Corresponds to variant rs2297411 [ dbSNP | Ensembl ].
VAR_020319
Natural varianti213 – 2131R → W in COQ10D4. 1 Publication
VAR_044402
Natural varianti272 – 2721G → D in COQ10D4. 1 Publication
VAR_044403
Natural varianti272 – 2721G → V in COQ10D4. 1 Publication
VAR_044404
Natural varianti341 – 3411I → T.1 Publication
Corresponds to variant rs55798516 [ dbSNP | Ensembl ].
VAR_045576
Natural varianti514 – 5141Y → C in COQ10D4. 1 Publication
VAR_044405
Natural varianti549 – 5491G → S in COQ10D4. 1 Publication
VAR_044406
Natural varianti551 – 5511E → K in COQ10D4. 1 Publication
VAR_044407
Natural varianti584 – 5841Missing in COQ10D4. 1 Publication
VAR_044408

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 484484Missing in isoform 2. 1 PublicationVSP_022351Add
BLAST
Alternative sequencei1 – 279279Missing in isoform 4. 1 PublicationVSP_022352Add
BLAST
Alternative sequencei1 – 5252Missing in isoform 3. 1 PublicationVSP_022353Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1557.1. [Q8NI60-1]
RefSeqiNP_064632.2. NM_020247.4. [Q8NI60-1]
XP_005273258.1. XM_005273201.1. [Q8NI60-1]
XP_005273259.1. XM_005273202.2. [Q8NI60-1]
XP_005273260.1. XM_005273203.1. [Q8NI60-1]
UniGeneiHs.118241.

Genome annotation databases

EnsembliENST00000366777; ENSP00000355739; ENSG00000163050. [Q8NI60-1]
ENST00000366778; ENSP00000355740; ENSG00000163050. [Q8NI60-3]
ENST00000366779; ENSP00000355741; ENSG00000163050. [Q8NI60-1]
GeneIDi56997.
KEGGihsa:56997.
UCSCiuc001hqm.1. human. [Q8NI60-1]
uc009xer.1. human. [Q8NI60-2]

Polymorphism databases

DMDMi27923741.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS1557.1. [Q8NI60-1 ]
RefSeqi NP_064632.2. NM_020247.4. [Q8NI60-1 ]
XP_005273258.1. XM_005273201.1. [Q8NI60-1 ]
XP_005273259.1. XM_005273202.2. [Q8NI60-1 ]
XP_005273260.1. XM_005273203.1. [Q8NI60-1 ]
UniGenei Hs.118241.

3D structure databases

ProteinModelPortali Q8NI60.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121312. 8 interactions.
IntActi Q8NI60. 7 interactions.
MINTi MINT-1479202.

Chemistry

BindingDBi Q8NI60.
ChEMBLi CHEMBL5550.
GuidetoPHARMACOLOGYi 1927.

PTM databases

PhosphoSitei Q8NI60.

Polymorphism databases

DMDMi 27923741.

Proteomic databases

MaxQBi Q8NI60.
PaxDbi Q8NI60.
PRIDEi Q8NI60.

Protocols and materials databases

DNASUi 56997.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000366777 ; ENSP00000355739 ; ENSG00000163050 . [Q8NI60-1 ]
ENST00000366778 ; ENSP00000355740 ; ENSG00000163050 . [Q8NI60-3 ]
ENST00000366779 ; ENSP00000355741 ; ENSG00000163050 . [Q8NI60-1 ]
GeneIDi 56997.
KEGGi hsa:56997.
UCSCi uc001hqm.1. human. [Q8NI60-1 ]
uc009xer.1. human. [Q8NI60-2 ]

Organism-specific databases

CTDi 56997.
GeneCardsi GC01P227087.
H-InvDB HIX0001648.
HGNCi HGNC:16812. ADCK3.
HPAi HPA018217.
MIMi 606980. gene.
612016. phenotype.
neXtProti NX_Q8NI60.
Orphaneti 139485. Autosomal recessive ataxia due to ubiquinone deficiency.
PharmGKBi PA25999.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0661.
GeneTreei ENSGT00550000074739.
HOGENOMi HOG000201140.
HOVERGENi HBG061318.
InParanoidi Q8NI60.
KOi K08869.
OMAi HQDQSPV.
OrthoDBi EOG7X9G6H.
PhylomeDBi Q8NI60.
TreeFami TF300630.

Miscellaneous databases

ChiTaRSi ADCK3. human.
GeneWikii CABC1.
GenomeRNAii 56997.
NextBioi 62711.
PROi Q8NI60.
SOURCEi Search...

Gene expression databases

Bgeei Q8NI60.
CleanExi HS_CABC1.
ExpressionAtlasi Q8NI60. baseline and differential.
Genevestigatori Q8NI60.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view ]
Pfami PF03109. ABC1. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., 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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. 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.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants."
    Xie L.X., Hsieh E.J., Watanabe S., Allan C.M., Chen J.Y., Tran U.C., Clarke C.F.
    Biochim. Biophys. Acta 1811:348-360(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  10. Cited for: TISSUE SPECIFICITY.
  11. "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.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-341.
  12. Cited for: VARIANTS COQ10D4 TRP-213; VAL-272; ASP-272 AND LYS-551.
  13. Cited for: VARIANTS COQ10D4 CYS-514; SER-549 AND THR-584 DEL.

Entry informationi

Entry nameiADCK3_HUMAN
AccessioniPrimary (citable) accession number: Q8NI60
Secondary accession number(s): Q5T7A5
, Q63HK0, Q8NCJ6, Q9HBQ1, Q9NQ67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3