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Q8N490

- PNKD_HUMAN

UniProt

Q8N490 - PNKD_HUMAN

Protein

Probable hydrolase PNKD

Gene

PNKD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi172 – 1721Zinc 1By similarity
    Metal bindingi174 – 1741Zinc 1By similarity
    Metal bindingi176 – 1761Zinc 2By similarity
    Metal bindingi177 – 1771Zinc 2By similarity
    Metal bindingi229 – 2291Zinc 1By similarity
    Metal bindingi253 – 2531Zinc 1By similarity
    Metal bindingi253 – 2531Zinc 2By similarity
    Metal bindingi291 – 2911Zinc 2By similarity

    GO - Molecular functioni

    1. hydroxyacylglutathione hydrolase activity Source: InterPro
    2. zinc ion binding Source: InterPro

    GO - Biological processi

    1. glutathione biosynthetic process Source: InterPro

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable hydrolase PNKD (EC:3.-.-.-)
    Alternative name(s):
    Myofibrillogenesis regulator 1
    Short name:
    MR-1
    Paroxysmal nonkinesiogenic dyskinesia protein
    Trans-activated by hepatitis C virus core protein 2
    Gene namesi
    Name:PNKD
    Synonyms:KIAA1184, MR1, TAHCCP2
    ORF Names:FKSG19, UNQ2491/PRO5778
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:9153. PNKD.

    Subcellular locationi

    GO - Cellular componenti

    1. membrane Source: MGI
    2. mitochondrion Source: HPA
    3. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Mitochondrion, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71A → V in DYT8. 3 Publications
    VAR_034844
    Natural varianti9 – 91A → V in DYT8. 3 Publications
    VAR_034845

    Keywords - Diseasei

    Disease mutation, Dystonia

    Organism-specific databases

    MIMi118800. phenotype.
    Orphaneti98810. Paroxysmal non-kinesigenic dyskinesia.
    PharmGKBiPA33476.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 385385Probable hydrolase PNKDPRO_0000299549Add
    BLAST

    Post-translational modificationi

    Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8N490.
    PaxDbiQ8N490.
    PRIDEiQ8N490.

    PTM databases

    PhosphoSiteiQ8N490.

    Expressioni

    Tissue specificityi

    Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.3 Publications

    Inductioni

    By Hepatitis C virus core protein.1 Publication

    Gene expression databases

    BgeeiQ8N490.
    CleanExiHS_MR1.
    HS_PNKD.
    GenevestigatoriQ8N490.

    Organism-specific databases

    HPAiHPA010134.
    HPA017068.

    Interactioni

    Subunit structurei

    Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3.1 Publication

    Protein-protein interaction databases

    BioGridi117446. 5 interactions.
    IntActiQ8N490. 5 interactions.
    MINTiMINT-1453480.
    STRINGi9606.ENSP00000273077.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N490.
    SMRiQ8N490. Positions 119-380.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni291 – 2933Substrate bindingBy similarity
    Regioni376 – 3794Substrate bindingBy similarity

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0491.
    HOVERGENiHBG001152.
    InParanoidiQ8N490.
    OMAiMLINTTI.
    OrthoDBiEOG70CR9X.
    PhylomeDBiQ8N490.
    TreeFamiTF105273.

    Family and domain databases

    Gene3Di3.60.15.10. 1 hit.
    HAMAPiMF_01374. Glyoxalase_2.
    InterProiIPR001279. Beta-lactamas-like.
    IPR017782. Hydroxyacylglutathione_Hdrlase.
    [Graphical view]
    PfamiPF00753. Lactamase_B. 1 hit.
    [Graphical view]
    SMARTiSM00849. Lactamase_B. 1 hit.
    [Graphical view]
    SUPFAMiSSF56281. SSF56281. 1 hit.
    TIGRFAMsiTIGR03413. GSH_gloB. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N490-1) [UniParc]FASTAAdd to Basket

    Also known as: MR-1L

    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

    MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK    50
    EEPEPLSPEL EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA 100
    RNRYPKGHSK TQPRLFNGVK VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD 150
    PRAVQASIEK EGVTLVAILC THKHWDHSGG NRDLSRRHRD CRVYGSPQDG 200
    IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG EPYKGPSCLF 250
    SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF 300
    AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL 350
    QEALGPGPGP TGDDDYSRAQ LLEELRRLKD MHKSK 385
    Length:385
    Mass (Da):42,876
    Last modified:September 11, 2007 - v2
    Checksum:iA4D631D3A4319A2C
    GO
    Isoform 2 (identifier: Q8N490-2) [UniParc]FASTAAdd to Basket

    Also known as: MR-1S

    The sequence of this isoform differs from the canonical sequence as follows:
         80-142: YSLYTRTWLG...YLIIDTQAQL → AIGFPCGILL...SPDVGSGVQT
         143-385: Missing.

    Show »
    Length:142
    Mass (Da):15,397
    Checksum:i21108BA446DB0BE2
    GO
    Isoform 3 (identifier: Q8N490-3) [UniParc]FASTAAdd to Basket

    Also known as: MR-1M

    The sequence of this isoform differs from the canonical sequence as follows:
         1-79: MAAVVAATAL...NPMKAVGLAW → MAWQGWPAAW...HSQRLLFRIG

    Show »
    Length:361
    Mass (Da):40,747
    Checksum:iC615B7DE31B9E4F6
    GO
    Isoform 4 (identifier: Q8N490-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: Missing.
         61-78: EYIPRKRGKNPMKAVGLA → MPSSVHHTKRQMMSIYCY

    Note: No experimental confirmation available.

    Show »
    Length:325
    Mass (Da):36,849
    Checksum:i40A100CAB88A9067
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti12 – 121G → S in AAH36457. (PubMed:15489334)Curated
    Sequence conflicti33 – 331A → V in AAH36457. (PubMed:15489334)Curated
    Sequence conflicti47 – 471P → S in AAH36457. (PubMed:15489334)Curated
    Sequence conflicti377 – 3771R → L in CAB70870. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71A → V in DYT8. 3 Publications
    VAR_034844
    Natural varianti9 – 91A → V in DYT8. 3 Publications
    VAR_034845

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7979MAAVV…VGLAW → MAWQGWPAAWQWVAGCWLLL VLVLVLLVSPRGCRARRGLR GLLMAHSQRLLFRIG in isoform 3. 2 PublicationsVSP_027736Add
    BLAST
    Alternative sequencei1 – 6060Missing in isoform 4. 1 PublicationVSP_027737Add
    BLAST
    Alternative sequencei61 – 7818EYIPR…AVGLA → MPSSVHHTKRQMMSIYCY in isoform 4. 1 PublicationVSP_027738Add
    BLAST
    Alternative sequencei80 – 14263YSLYT…TQAQL → AIGFPCGILLFILTKREVDK DRVKQMKARQNMRLSNTGEY ESQRFRASSQSAPSPDVGSG VQT in isoform 2. 5 PublicationsVSP_027739Add
    BLAST
    Alternative sequencei143 – 385243Missing in isoform 2. 5 PublicationsVSP_027740Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF417001 mRNA. Translation: AAL08573.1.
    AY039043 mRNA. Translation: AAK83449.1.
    AF318057 mRNA. Translation: AAL25716.1.
    AF390031 Genomic DNA. Translation: AAM73649.1.
    AY358753 mRNA. Translation: AAQ89113.1.
    AK289867 mRNA. Translation: BAF82556.1.
    AL080092 mRNA. Translation: CAB45707.2.
    AL137675 mRNA. Translation: CAB70870.2.
    CH471063 Genomic DNA. Translation: EAW70602.1.
    CH471063 Genomic DNA. Translation: EAW70604.1.
    BC002937 mRNA. Translation: AAH02937.1.
    BC021118 mRNA. Translation: AAH21118.1.
    BC036457 mRNA. Translation: AAH36457.1.
    AB033010 mRNA. Translation: BAA86498.1.
    CCDSiCCDS2411.1. [Q8N490-1]
    CCDS2413.1. [Q8N490-3]
    CCDS42816.1. [Q8N490-2]
    PIRiT46495.
    RefSeqiNP_001070867.1. NM_001077399.2. [Q8N490-2]
    NP_056303.3. NM_015488.4. [Q8N490-1]
    NP_072094.1. NM_022572.4. [Q8N490-3]
    UniGeneiHs.98475.

    Genome annotation databases

    EnsembliENST00000248451; ENSP00000248451; ENSG00000127838. [Q8N490-2]
    ENST00000258362; ENSP00000258362; ENSG00000127838. [Q8N490-3]
    ENST00000273077; ENSP00000273077; ENSG00000127838. [Q8N490-1]
    ENST00000436005; ENSP00000414400; ENSG00000127838. [Q8N490-4]
    GeneIDi25953.
    KEGGihsa:25953.
    UCSCiuc002vhm.2. human. [Q8N490-2]
    uc002vhn.3. human. [Q8N490-1]
    uc002vhq.3. human. [Q8N490-3]

    Polymorphism databases

    DMDMi158563846.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF417001 mRNA. Translation: AAL08573.1 .
    AY039043 mRNA. Translation: AAK83449.1 .
    AF318057 mRNA. Translation: AAL25716.1 .
    AF390031 Genomic DNA. Translation: AAM73649.1 .
    AY358753 mRNA. Translation: AAQ89113.1 .
    AK289867 mRNA. Translation: BAF82556.1 .
    AL080092 mRNA. Translation: CAB45707.2 .
    AL137675 mRNA. Translation: CAB70870.2 .
    CH471063 Genomic DNA. Translation: EAW70602.1 .
    CH471063 Genomic DNA. Translation: EAW70604.1 .
    BC002937 mRNA. Translation: AAH02937.1 .
    BC021118 mRNA. Translation: AAH21118.1 .
    BC036457 mRNA. Translation: AAH36457.1 .
    AB033010 mRNA. Translation: BAA86498.1 .
    CCDSi CCDS2411.1. [Q8N490-1 ]
    CCDS2413.1. [Q8N490-3 ]
    CCDS42816.1. [Q8N490-2 ]
    PIRi T46495.
    RefSeqi NP_001070867.1. NM_001077399.2. [Q8N490-2 ]
    NP_056303.3. NM_015488.4. [Q8N490-1 ]
    NP_072094.1. NM_022572.4. [Q8N490-3 ]
    UniGenei Hs.98475.

    3D structure databases

    ProteinModelPortali Q8N490.
    SMRi Q8N490. Positions 119-380.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117446. 5 interactions.
    IntActi Q8N490. 5 interactions.
    MINTi MINT-1453480.
    STRINGi 9606.ENSP00000273077.

    PTM databases

    PhosphoSitei Q8N490.

    Polymorphism databases

    DMDMi 158563846.

    Proteomic databases

    MaxQBi Q8N490.
    PaxDbi Q8N490.
    PRIDEi Q8N490.

    Protocols and materials databases

    DNASUi 25953.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000248451 ; ENSP00000248451 ; ENSG00000127838 . [Q8N490-2 ]
    ENST00000258362 ; ENSP00000258362 ; ENSG00000127838 . [Q8N490-3 ]
    ENST00000273077 ; ENSP00000273077 ; ENSG00000127838 . [Q8N490-1 ]
    ENST00000436005 ; ENSP00000414400 ; ENSG00000127838 . [Q8N490-4 ]
    GeneIDi 25953.
    KEGGi hsa:25953.
    UCSCi uc002vhm.2. human. [Q8N490-2 ]
    uc002vhn.3. human. [Q8N490-1 ]
    uc002vhq.3. human. [Q8N490-3 ]

    Organism-specific databases

    CTDi 25953.
    GeneCardsi GC02P219135.
    GeneReviewsi PNKD.
    HGNCi HGNC:9153. PNKD.
    HPAi HPA010134.
    HPA017068.
    MIMi 118800. phenotype.
    609023. gene.
    neXtProti NX_Q8N490.
    Orphaneti 98810. Paroxysmal non-kinesigenic dyskinesia.
    PharmGKBi PA33476.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0491.
    HOVERGENi HBG001152.
    InParanoidi Q8N490.
    OMAi MLINTTI.
    OrthoDBi EOG70CR9X.
    PhylomeDBi Q8N490.
    TreeFami TF105273.

    Miscellaneous databases

    ChiTaRSi PNKD. human.
    GeneWikii PNKD.
    GenomeRNAii 25953.
    NextBioi 47556.
    PROi Q8N490.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8N490.
    CleanExi HS_MR1.
    HS_PNKD.
    Genevestigatori Q8N490.

    Family and domain databases

    Gene3Di 3.60.15.10. 1 hit.
    HAMAPi MF_01374. Glyoxalase_2.
    InterProi IPR001279. Beta-lactamas-like.
    IPR017782. Hydroxyacylglutathione_Hdrlase.
    [Graphical view ]
    Pfami PF00753. Lactamase_B. 1 hit.
    [Graphical view ]
    SMARTi SM00849. Lactamase_B. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56281. SSF56281. 1 hit.
    TIGRFAMsi TIGR03413. GSH_gloB. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle."
      Li T.-B., Liu X.-H., Feng S., Hu Y., Yang W.-X., Han Y., Wang Y.-G., Gong L.-M.
      Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INTERACTION WITH MRLC2; MYOM1 AND ENO3.
    2. "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study."
      Liu M., Liu Y., Cheng J., Zhang S.-L., Wang L., Shao Q., Zhang J., Yang Q.
      World J. Gastroenterol. 10:1746-1749(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INDUCTION.
    3. "Cloning of FKSG19, a novel gene expressed in ovarian tumour tissue."
      Wang Y.-G., Gong L.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. "Identification of human genomic DNA structure of the gene trans-activated by hepatitis C virus core protein 2."
      Liu Y., Cheng J., Wang G., Li K., Dong J., Li L., Chen J., Zhang L.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    6. "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: Caudate nucleus.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
      Tissue: Brain.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORMS 1; 2 AND 3).
      Tissue: Brain.
    10. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-385 (ISOFORM 1).
      Tissue: Brain.
    11. "Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia."
      Spacey S.D., Adams P.J., Lam P.C., Materek L.A., Stoessl A.J., Snutch T.P., Hsiung G.Y.
      Neurology 66:1588-1590(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DYT8.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    13. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis."
      Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., Zhao X., Lemons R., Albin R., Delaney C., Alvarado D., Fink J.K.
      Arch. Neurol. 61:1025-1029(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DYT8 VAL-7 AND VAL-9, TISSUE SPECIFICITY.
    16. Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    17. "Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds."
      Chen D.-H., Matsushita M., Rainier S., Meaney B., Tisch L., Feleke A., Wolff J., Lipe H., Fink J., Bird T.D., Raskind W.H.
      Arch. Neurol. 62:597-600(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DYT8 VAL-7 AND VAL-9.
    18. "Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation."
      Stefanova E., Djarmati A., Momcilovic D., Dragasevic N., Svetel M., Klein C., Kostic V.S.
      Mov. Disord. 21:2010-2015(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DYT8 VAL-9.
    19. "Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia."
      Hempelmann A., Kumar S., Muralitharan S., Sander T.
      Neurosci. Lett. 402:118-120(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DYT8 VAL-7.

    Entry informationi

    Entry nameiPNKD_HUMAN
    AccessioniPrimary (citable) accession number: Q8N490
    Secondary accession number(s): A8K1F2
    , Q96A48, Q9BU26, Q9NSX4, Q9ULN6, Q9Y4T1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 96 of the entry and version 2 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3