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PNKD paroxysmal nonkinesigenic dyskinesia [ Homo sapiens (human) ]

Gene ID: 25953, updated on 19-Mar-2017
Official Symbol
PNKDprovided by HGNC
Official Full Name
paroxysmal nonkinesigenic dyskinesiaprovided by HGNC
Primary source
HGNC:HGNC:9153
See related
Ensembl:ENSG00000127838 MIM:609023; Vega:OTTHUMG00000133110
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MR1; PDC; DYT8; FPD1; MR-1; BRP17; PKND1; FKSG19; TAHCCP2; KIPP1184
Summary
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Orthologs
Location:
2q35
Exon count:
12
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (218270392..218346793)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219135115..219211516)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled bile acid receptor 1 Neighboring gene angio associated migratory cell protein Neighboring gene transmembrane BAX inhibitor motif containing 1 Neighboring gene microRNA 6513 Neighboring gene uncharacterized LOC105373881 Neighboring gene uncharacterized LOC105373880 Neighboring gene CATIP antisense RNA 2 Neighboring gene microRNA 6810 Neighboring gene ribosomal protein L19 pseudogene 5 Neighboring gene ciliogenesis associated TTC17 interacting protein Neighboring gene CATIP antisense RNA 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Paroxysmal choreoathetosis Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1184, MGC31943, DKFZp564N1362

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydroxyacylglutathione hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neurotransmitter secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
 
regulation of dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic transmission, dopaminergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
probable hydrolase PNKD
Names
brain protein 17
myofibrillogenesis regulator 1
trans-activated by hepatitis C virus core protein 2
NP_001070867.1
NP_056303.3
NP_072094.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017060.1 RefSeqGene

    Range
    5001..81402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077399.2NP_001070867.1  probable hydrolase PNKD isoform 3 precursor

    See identical proteins and their annotated locations for NP_001070867.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), alternately referred to as the short form (MR-1S), differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a frameshift in isoform 3, which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF318057, BQ028777
    Consensus CDS
    CCDS42816.1
    UniProtKB/Swiss-Prot
    Q8N490
    Related
    ENSP00000248451, OTTHUMP00000207315, ENST00000248451, OTTHUMT00000338549
    Conserved Domains (1) summary
    pfam15932
    Location:71121
    DUF4748; Domain of unknown function (DUF4748)
  2. NM_015488.4NP_056303.3  probable hydrolase PNKD isoform 1 precursor

    See identical proteins and their annotated locations for NP_056303.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), alternately referred to as the long form (MR-1L), represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB033010, AF318057, BC002937, BC036457
    Consensus CDS
    CCDS2411.1
    UniProtKB/Swiss-Prot
    Q8N490
    UniProtKB/TrEMBL
    A0A024R415
    Related
    ENSP00000273077, OTTHUMP00000164142, ENST00000273077, OTTHUMT00000256775
    Conserved Domains (3) summary
    TIGR03413
    Location:121380
    GSH_gloB; hydroxyacylglutathione hydrolase
    pfam16123
    Location:292380
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    cd07723
    Location:123291
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
  3. NM_022572.4NP_072094.1  probable hydrolase PNKD isoform 2

    See identical proteins and their annotated locations for NP_072094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), alternately referred to as the medium form (MR-1M), differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC021016, BC002937, BC036457, BU553179
    Consensus CDS
    CCDS2413.1
    UniProtKB/Swiss-Prot
    Q8N490
    Related
    ENSP00000258362, OTTHUMP00000164143, ENST00000258362, OTTHUMT00000256776
    Conserved Domains (3) summary
    TIGR03413
    Location:97356
    GSH_gloB; hydroxyacylglutathione hydrolase
    pfam16123
    Location:268356
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    cd07723
    Location:99267
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    218270392..218346793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003771.1XP_016859260.1  probable hydrolase PNKD isoform X1

  2. XM_017003772.1XP_016859261.1  probable hydrolase PNKD isoform X2

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    219141604..219218160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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