ENSMUSG00000026179


Mus musculus

Features
Gene ID: ENSMUSG00000026179
  
Biological name :Pnkd
  
Synonyms : paroxysmal nonkinesiogenic dyskinesia / Pnkd / Q69ZP3
  
Possible biological names infered from orthology : paroxysmal nonkinesigenic dyskinesia / Q8N490
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: C3
Gene start: 74284930
Gene end: 74353694
  
Corresponding Affymetrix probe sets: 10347310 (MoGene1.0st)   10453459 (MoGene1.0st)   1418746_at (Mouse Genome 430 2.0 Array)   1451399_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000027370
Ensembl peptide - ENSMUSP00000084477
Ensembl peptide - ENSMUSP00000084478
Ensembl peptide - ENSMUSP00000109436
NCBI entrez gene - 56695     See in Manteia.
MGI - MGI:1930773
RefSeq - XM_006496167
RefSeq - NM_001039509
RefSeq - NM_019999
RefSeq - NM_025580
RefSeq Peptide - NP_001034598
RefSeq Peptide - NP_064383
RefSeq Peptide - NP_079856
swissprot - Q69ZP3
swissprot - A0A0R4J1J1
Ensembl - ENSMUSG00000026179
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pnkdENSDARG00000071032Danio rerio
 PNKDENSGALG00000022166Gallus gallus
 PNKDENSG00000127838Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hagh / hydroxyacyl glutathione hydrolase / Q16775* / hydroxyacylglutathione hydrolase*ENSMUSG0000002415830
Haghl / Q9DB32 / Hydroxyacylglutathione hydrolase-like protein / Q6PII5* / hydroxyacylglutathione hydrolase like*ENSMUSG0000006104626
Ethe1 / Q9DCM0 / Persulfide dioxygenase ETHE1, mitochondrial / O95571* / ETHE1, persulfide dioxygenase*ENSMUSG0000006425416


Protein motifs (from Interpro)
Interpro ID Name
 IPR001279  Metallo-beta-lactamase
 IPR017782  Hydroxyacylglutathione hydrolase
 IPR031833  Protein of unknown function DUF4748
 IPR032282  Hydroxyacylglutathione hydrolase, C-terminal domain
 IPR035680  Hydroxyacylglutathione hydrolase, MBL domain
 IPR036866  Ribonuclease Z/Hydroxyacylglutathione hydrolase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
 biological_processGO:0032225 regulation of synaptic transmission, dopaminergic IMP
 biological_processGO:0042053 regulation of dopamine metabolic process IMP
 biological_processGO:0046929 negative regulation of neurotransmitter secretion ISO
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004416 hydroxyacylglutathione hydrolase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001905 abnormal dopamine level "greater or less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Scyl1tm1Spel/Scyl1tm1Spel,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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