Skip Header

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

Probable hydrolase PNKD

Gene

PNKD

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

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

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:9153. PNKD.

Subcellular locationi

GO - Cellular componenti

  • membrane Source: MGI
  • mitochondrion Source: HPA
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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 rs121434512dbSNPEnsembl.1
Natural variantiVAR_0348459A → V in DYT8. 3 PublicationsCorresponds to variant rs121434511dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi25953.
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

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N490.
MaxQBiQ8N490.
PaxDbiQ8N490.
PeptideAtlasiQ8N490.
PRIDEiQ8N490.

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.
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

WithEntry#Exp.IntActNotes
KCTD9Q7L2733EBI-746368,EBI-4397613
MAGEA11P43364-23EBI-746368,EBI-10178634
MAPK3P273614EBI-746368,EBI-73995

Protein-protein interaction databases

BioGridi117446. 96 interactors.
IntActiQ8N490. 18 interactors.
MINTiMINT-1453480.
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

Gene3Di3.60.15.10. 1 hit.
HAMAPiMF_01374. Glyoxalase_2. 1 hit.
InterProiIPR032282. HAGH_C.
IPR017782. Hydroxyacylglutathione_Hdrlase.
IPR001279. Metallo-B-lactamas.
[Graphical view]
PfamiPF16123. HAGH_C. 1 hit.
PF00753. 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. 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 rs121434512dbSNPEnsembl.1
Natural variantiVAR_0348459A → V in DYT8. 3 PublicationsCorresponds to variant rs121434511dbSNPEnsembl.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

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. 96 interactors.
IntActiQ8N490. 18 interactors.
MINTiMINT-1453480.
STRINGi9606.ENSP00000273077.

PTM databases

iPTMnetiQ8N490.
PhosphoSitePlusiQ8N490.

Polymorphism and mutation databases

BioMutaiPNKD.
DMDMi158563846.

Proteomic databases

EPDiQ8N490.
MaxQBiQ8N490.
PaxDbiQ8N490.
PeptideAtlasiQ8N490.
PRIDEiQ8N490.

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.
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.
PROiQ8N490.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127838.
CleanExiHS_MR1.
HS_PNKD.
ExpressionAtlasiQ8N490. baseline and differential.
GenevisibleiQ8N490. HS.

Family and domain databases

Gene3Di3.60.15.10. 1 hit.
HAMAPiMF_01374. Glyoxalase_2. 1 hit.
InterProiIPR032282. HAGH_C.
IPR017782. Hydroxyacylglutathione_Hdrlase.
IPR001279. Metallo-B-lactamas.
[Graphical view]
PfamiPF16123. HAGH_C. 1 hit.
PF00753. Lactamase_B. 1 hit.
[Graphical view]
SMARTiSM00849. Lactamase_B. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 30, 2016
This is version 115 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.