SubmitCancel

Skip Header

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

Q8N490

- PNKD_HUMAN

UniProt

Q8N490 - PNKD_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
Probable hydrolase PNKD
Gene
PNKD, KIAA1184, MR1, TAHCCP2, FKSG19, UNQ2491/PRO5778
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.UniRule annotation

Sites

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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 PNKDUniRule annotation
PRO_0000299549Add
BLAST

Post-translational modificationi

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

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.

Family & Domainsi

Region

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

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.
VSP_027736Add
BLAST
Alternative sequencei1 – 6060Missing in isoform 4.
VSP_027737Add
BLAST
Alternative sequencei61 – 7818EYIPR…AVGLA → MPSSVHHTKRQMMSIYCY in isoform 4.
VSP_027738Add
BLAST
Alternative sequencei80 – 14263YSLYT…TQAQL → AIGFPCGILLFILTKREVDK DRVKQMKARQNMRLSNTGEY ESQRFRASSQSAPSPDVGSG VQT in isoform 2.
VSP_027739Add
BLAST
Alternative sequencei143 – 385243Missing in isoform 2.
VSP_027740Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 121G → S in AAH36457. 1 Publication
Sequence conflicti33 – 331A → V in AAH36457. 1 Publication
Sequence conflicti47 – 471P → S in AAH36457. 1 Publication
Sequence conflicti377 – 3771R → L in CAB70870. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 95 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

Similar proteinsi