Pnkd
Gene Detail

Symbol Name ID

Pnkd paroxysmal nonkinesiogenic dyskinesia MGI:1930773

Synonyms

2210013N15Rik, 2810403H05Rik, Brp17

Feature Type

protein coding gene

Genetic Map

Chromosome 1

38.53 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr1:74284930-74353694 bp, + strand From VEGA annotation of GRCm38   68765 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:75045  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pnkd

Human homologs

Human Homolog		PNKD, paroxysmal nonkinesigenic dyskinesia
NCBI Gene ID		25953
neXtProt AC		NX_Q8N490
Human Synonyms		BRP17, DYT8, FPD1, KIPP1184, MR1, MR-1, PDC, PKND1, TAHCCP2
Human Chr (Location)		2q35; chr2:219135115-219211516 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PNKD

Alleles and phenotypes

All alleles(30) : Targeted(4) Gene trapped(26)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	glutathione biosynthetic process
Component	cytoplasm, membrane, ...
Function	hydrolase activity, hydroxyacylglutathione hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (42)    Tissues (28)    Images (13)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	42

cDNA source data(110)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(110) cDNA(110)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000021729 (Evidence)
Ensembl Gene Model	ENSMUSG00000026179 (Evidence)
Entrez Gene	56695 (Evidence)
UniGene	384726
DFCI	TC1577267, TC1580873, TC1612194, TC1722097
NIA Mouse Gene Index	U000444, U137204, U267733
EC	3.-.-.-
Consensus CDS Project	CCDS15045.1, CCDS35613.1, CCDS35614.1
International Mouse Knockout Project Status	Pnkd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021729	VEGA Gene Model | MGI Sequence Detail	68765	C57BL/6J
transcript	OTTMUST00000051554	VEGA | MGI Sequence Detail	3054	Not Applicable
polypeptide	OTTMUSP00000024292	VEGA | MGI Sequence Detail	424	Not Applicable

All sequences(69) RefSeq(6) UniProt(1)

Polymorphisms

SNPs(165 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001279	Beta-lactamase-like
InterPro	IPR017782	Hydroxyacylglutathione hydrolase
Protein Ontology	PR:000031465	probable hydrolase PNKD

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:192798 Lee HY, et al., Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest. 2012 Feb 1;122(2):507-18
All references(41)

Other accession IDs

MGI:1913716, MGI:1924205, MGI:2146944