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Protein

Probable hydrolase PNKD

Gene

PNKD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi172Zinc 1By similarity1
Metal bindingi174Zinc 1By similarity1
Metal bindingi176Zinc 2By similarity1
Metal bindingi177Zinc 2By similarity1
Metal bindingi229Zinc 1By similarity1
Metal bindingi253Zinc 1By similarity1
Metal bindingi253Zinc 2By similarity1
Metal bindingi291Zinc 2By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandMetal-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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000127838.13
HGNCiHGNC:9153 PNKD
MIMi609023 gene
neXtProtiNX_Q8N490

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Dystonia 8 (DYT8)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:118800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0348447A → V in DYT8. 3 PublicationsCorresponds to variant dbSNP:rs121434512EnsemblClinVar.1
Natural variantiVAR_0348459A → V in DYT8. 3 PublicationsCorresponds to variant dbSNP:rs121434511EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi25953
GeneReviewsiPNKD
MalaCardsiPNKD
MIMi118800 phenotype
OpenTargetsiENSG00000127838
Orphaneti98810 Paroxysmal non-kinesigenic dyskinesia
PharmGKBiPA33476

Polymorphism and mutation databases

BioMutaiPNKD
DMDMi158563846

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002995491 – 385Probable hydrolase PNKDAdd BLAST385

Proteomic databases

EPDiQ8N490
MaxQBiQ8N490
PaxDbiQ8N490
PeptideAtlasiQ8N490
PRIDEiQ8N490
ProteomicsDBi71896
71897 [Q8N490-2]
71898 [Q8N490-3]
71899 [Q8N490-4]

PTM databases

iPTMnetiQ8N490
PhosphoSitePlusiQ8N490

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

BgeeiENSG00000127838 Expressed in 200 organ(s), highest expression level in fundus of stomach
CleanExiHS_MR1
HS_PNKD
ExpressionAtlasiQ8N490 baseline and differential
GenevisibleiQ8N490 HS

Organism-specific databases

HPAiHPA010134
HPA017068

Interactioni

Subunit structurei

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

Binary interactionsi

Protein-protein interaction databases

BioGridi117446, 99 interactors
IntActiQ8N490, 21 interactors
MINTiQ8N490
STRINGi9606.ENSP00000273077

Structurei

3D structure databases

ProteinModelPortaliQ8N490
SMRiQ8N490
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni291 – 293Substrate bindingBy similarity3
Regioni376 – 379Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0813 Eukaryota
COG0491 LUCA
GeneTreeiENSGT00530000063033
HOVERGENiHBG001152
InParanoidiQ8N490
OMAiHTVGHMI
OrthoDBiEOG091G08UZ
PhylomeDBiQ8N490
TreeFamiTF105273

Family and domain databases

CDDicd07723 hydroxyacylglutathione_hydrola, 1 hit
Gene3Di3.60.15.10, 1 hit
HAMAPiMF_01374 Glyoxalase_2, 1 hit
InterProiView protein in InterPro
IPR035680 Clx_II_MBL
IPR032282 HAGH_C
IPR017782 Hydroxyacylglutathione_Hdrlase
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
PfamiView protein in Pfam
PF16123 HAGH_C, 1 hit
PF00753 Lactamase_B, 1 hit
SMARTiView protein in SMART
SM00849 Lactamase_B, 1 hit
SUPFAMiSSF56281 SSF56281, 1 hit
TIGRFAMsiTIGR03413 GSH_gloB, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
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
        10         20         30         40         50
MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK
60 70 80 90 100
EEPEPLSPEL EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA
110 120 130 140 150
RNRYPKGHSK TQPRLFNGVK VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD
160 170 180 190 200
PRAVQASIEK EGVTLVAILC THKHWDHSGG NRDLSRRHRD CRVYGSPQDG
210 220 230 240 250
IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG EPYKGPSCLF
260 270 280 290 300
SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF
310 320 330 340 350
AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL
360 370 380
QEALGPGPGP TGDDDYSRAQ LLEELRRLKD MHKSK
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)DescriptionActionsGraphical viewLength
Sequence conflicti12G → S in AAH36457 (PubMed:15489334).Curated1
Sequence conflicti33A → V in AAH36457 (PubMed:15489334).Curated1
Sequence conflicti47P → S in AAH36457 (PubMed:15489334).Curated1
Sequence conflicti377R → L in CAB70870 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0348447A → V in DYT8. 3 PublicationsCorresponds to variant dbSNP:rs121434512EnsemblClinVar.1
Natural variantiVAR_0348459A → V in DYT8. 3 PublicationsCorresponds to variant dbSNP:rs121434511EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0277361 – 79MAAVV…VGLAW → MAWQGWPAAWQWVAGCWLLL VLVLVLLVSPRGCRARRGLR GLLMAHSQRLLFRIG in isoform 3. 2 PublicationsAdd BLAST79
Alternative sequenceiVSP_0277371 – 60Missing in isoform 4. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_02773861 – 78EYIPR…AVGLA → MPSSVHHTKRQMMSIYCY in isoform 4. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_02773980 – 142YSLYT…TQAQL → AIGFPCGILLFILTKREVDK DRVKQMKARQNMRLSNTGEY ESQRFRASSQSAPSPDVGSG VQT in isoform 2. 5 PublicationsAdd BLAST63
Alternative sequenceiVSP_027740143 – 385Missing in isoform 2. 5 PublicationsAdd BLAST243

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 [Q8N490-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ8N490
SMRiQ8N490
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117446, 99 interactors
IntActiQ8N490, 21 interactors
MINTiQ8N490
STRINGi9606.ENSP00000273077

PTM databases

iPTMnetiQ8N490
PhosphoSitePlusiQ8N490

Polymorphism and mutation databases

BioMutaiPNKD
DMDMi158563846

Proteomic databases

EPDiQ8N490
MaxQBiQ8N490
PaxDbiQ8N490
PeptideAtlasiQ8N490
PRIDEiQ8N490
ProteomicsDBi71896
71897 [Q8N490-2]
71898 [Q8N490-3]
71899 [Q8N490-4]

Protocols and materials databases

DNASUi25953
Structural Biology KnowledgebaseSearch...

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 [Q8N490-1]

Organism-specific databases

CTDi25953
DisGeNETi25953
EuPathDBiHostDB:ENSG00000127838.13
GeneCardsiPNKD
GeneReviewsiPNKD
HGNCiHGNC:9153 PNKD
HPAiHPA010134
HPA017068
MalaCardsiPNKD
MIMi118800 phenotype
609023 gene
neXtProtiNX_Q8N490
OpenTargetsiENSG00000127838
Orphaneti98810 Paroxysmal non-kinesigenic dyskinesia
PharmGKBiPA33476
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0813 Eukaryota
COG0491 LUCA
GeneTreeiENSGT00530000063033
HOVERGENiHBG001152
InParanoidiQ8N490
OMAiHTVGHMI
OrthoDBiEOG091G08UZ
PhylomeDBiQ8N490
TreeFamiTF105273

Miscellaneous databases

ChiTaRSiPNKD human
GeneWikiiPNKD
GenomeRNAii25953
PROiPR:Q8N490
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127838 Expressed in 200 organ(s), highest expression level in fundus of stomach
CleanExiHS_MR1
HS_PNKD
ExpressionAtlasiQ8N490 baseline and differential
GenevisibleiQ8N490 HS

Family and domain databases

CDDicd07723 hydroxyacylglutathione_hydrola, 1 hit
Gene3Di3.60.15.10, 1 hit
HAMAPiMF_01374 Glyoxalase_2, 1 hit
InterProiView protein in InterPro
IPR035680 Clx_II_MBL
IPR032282 HAGH_C
IPR017782 Hydroxyacylglutathione_Hdrlase
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
PfamiView protein in Pfam
PF16123 HAGH_C, 1 hit
PF00753 Lactamase_B, 1 hit
SMARTiView protein in SMART
SM00849 Lactamase_B, 1 hit
SUPFAMiSSF56281 SSF56281, 1 hit
TIGRFAMsiTIGR03413 GSH_gloB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPNKD_HUMAN
AccessioniPrimary (citable) accession number: Q8N490
Secondary accession number(s): A8K1F2
, Q96A48, Q9BU26, Q9NSX4, Q9ULN6, Q9Y4T1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: September 12, 2018
This is version 125 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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