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Entry version 138 (12 Aug 2020)
Sequence version 2 (11 Sep 2007)
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Protein

Probable hydrolase PNKD

Gene

PNKD

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N490

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PNKD
Synonyms:KIAA1184, MR1, TAHCCP2
ORF Names:FKSG19, UNQ2491/PRO5778
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000127838.13

Human Gene Nomenclature Database

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HGNCi
HGNC:9153, PNKD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609023, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8N490

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
25953

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PNKD

MalaCards human disease database

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MalaCardsi
PNKD
MIMi118800, phenotype

Open Targets

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OpenTargetsi
ENSG00000127838

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98810, Paroxysmal non-kinesigenic dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33476

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8N490, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PNKD

Domain mapping of disease mutations (DMDM)

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DMDMi
158563846

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002995491 – 385Probable hydrolase PNKDAdd BLAST385

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N490

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N490

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N490

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N490

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8N490

PeptideAtlas

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PeptideAtlasi
Q8N490

PRoteomics IDEntifications database

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PRIDEi
Q8N490

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71896 [Q8N490-1]
71897 [Q8N490-2]
71898 [Q8N490-3]
71899 [Q8N490-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N490

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8N490

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By Hepatitis C virus core protein.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000127838, Expressed in fundus of stomach and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N490, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N490, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000127838, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
117446, 109 interactors

Protein interaction database and analysis system

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IntActi
Q8N490, 93 interactors

Molecular INTeraction database

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MINTi
Q8N490

STRING: functional protein association networks

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STRINGi
9606.ENSP00000273077

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N490, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8N490

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni291 – 293Substrate bindingBy similarity3
Regioni376 – 379Substrate bindingBy similarity4

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0813, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158887

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1815131_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N490

KEGG Orthology (KO)

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KOi
K23864

Identification of Orthologs from Complete Genome Data

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OMAi
EDWTQFR

Database of Orthologous Groups

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OrthoDBi
961826at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N490

TreeFam database of animal gene trees

More...
TreeFami
TF105273

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07723, hydroxyacylglutathione_hydrolase_MBL-fold, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.60.15.10, 1 hit

HAMAP database of protein families

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HAMAPi
MF_01374, Glyoxalase_2, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035680, Clx_II_MBL
IPR032282, HAGH_C
IPR017782, Hydroxyacylglutathione_Hdrlase
IPR001279, Metallo-B-lactamas
IPR036866, RibonucZ/Hydroxyglut_hydro

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16123, HAGH_C, 1 hit
PF00753, Lactamase_B, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00849, Lactamase_B, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56281, SSF56281, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR03413, GSH_gloB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2411.1 [Q8N490-1]
CCDS2413.1 [Q8N490-3]
CCDS42816.1 [Q8N490-2]

Protein sequence database of the Protein Information Resource

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PIRi
T46495

NCBI Reference Sequences

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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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000248451; ENSP00000248451; ENSG00000127838 [Q8N490-2]
ENST00000258362; ENSP00000258362; ENSG00000127838 [Q8N490-3]
ENST00000273077; ENSP00000273077; ENSG00000127838 [Q8N490-1]
ENST00000436005; ENSP00000414400; ENSG00000127838 [Q8N490-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
25953

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:25953

UCSC genome browser

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UCSCi
uc002vhm.2, human [Q8N490-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ8N490
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117446, 109 interactors
IntActiQ8N490, 93 interactors
MINTiQ8N490
STRINGi9606.ENSP00000273077

PTM databases

iPTMnetiQ8N490
PhosphoSitePlusiQ8N490

Polymorphism and mutation databases

BioMutaiPNKD
DMDMi158563846

Proteomic databases

EPDiQ8N490
jPOSTiQ8N490
MassIVEiQ8N490
MaxQBiQ8N490
PaxDbiQ8N490
PeptideAtlasiQ8N490
PRIDEiQ8N490
ProteomicsDBi71896 [Q8N490-1]
71897 [Q8N490-2]
71898 [Q8N490-3]
71899 [Q8N490-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2431, 124 antibodies

The DNASU plasmid repository

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DNASUi
25953

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

Comparative Toxicogenomics Database

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CTDi
25953
DisGeNETi25953
EuPathDBiHostDB:ENSG00000127838.13

GeneCards: human genes, protein and diseases

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GeneCardsi
PNKD
GeneReviewsiPNKD
HGNCiHGNC:9153, PNKD
HPAiENSG00000127838, Low tissue specificity
MalaCardsiPNKD
MIMi118800, phenotype
609023, gene
neXtProtiNX_Q8N490
OpenTargetsiENSG00000127838
Orphaneti98810, Paroxysmal non-kinesigenic dyskinesia
PharmGKBiPA33476

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0813, Eukaryota
GeneTreeiENSGT00940000158887
HOGENOMiCLU_1815131_0_0_1
InParanoidiQ8N490
KOiK23864
OMAiEDWTQFR
OrthoDBi961826at2759
PhylomeDBiQ8N490
TreeFamiTF105273

Enzyme and pathway databases

PathwayCommonsiQ8N490

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
25953, 11 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PNKD, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PNKD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
25953
PharosiQ8N490, Tbio

Protein Ontology

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PROi
PR:Q8N490
RNActiQ8N490, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127838, Expressed in fundus of stomach and 215 other tissues
ExpressionAtlasiQ8N490, baseline and differential
GenevisibleiQ8N490, HS

Family and domain databases

CDDicd07723, hydroxyacylglutathione_hydrolase_MBL-fold, 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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPNKD_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N490
Secondary accession number(s): A8K1F2
, Q96A48, Q9BU26, Q9NSX4, Q9ULN6, Q9Y4T1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: August 12, 2020
This is version 138 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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