PNKD
entrez
25953
canonical
uniprot
Q8N490
canonical
ensembl
ENSG00000127838
resolver
ensp
ENSP00000248451
resolver
ensp
ENSP00000258362
resolver
ensp
ENSP00000273077
resolver
ensp
ENSP00000571588
resolver
genesymbol
PNKD
resolver
genesymbol_syn
KIAA1184
resolver
genesymbol_syn
MR1
resolver
genesymbol_syn
TAHCCP2
resolver
hgnc
HGNC:9153
resolver
uniprot
A8K1F2
resolver
uniprot
Q96A48
resolver
uniprot
Q9BU26
resolver
uniprot
Q9NSX4
resolver
uniprot
Q9ULN6
resolver
uniprot
Q9Y4T1
resolver
uniprot_entry
PNKD_HUMAN
resolver
uniprot_sec
A8K1F2
resolver
uniprot_sec
Q96A48
resolver
uniprot_sec
Q9BU26
resolver
uniprot_sec
Q9NSX4
resolver
uniprot_sec
Q9ULN6
resolver
uniprot_sec
Q9Y4T1
resolver
amino_acid_sequence
MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPELEYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALATPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGFAGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGPTGDDDYSRAQLLEELRRLKDMHKSK
uniprot
proteins
disease_involvement
DISEASE: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1) [MIM:118800]: An autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. The attacks of involuntary movements are brought on by stress, alcohol, fatigue or caffeine, and 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. {ECO:0000269|PubMed:15262732, ECO:0000269|PubMed:15824259, ECO:0000269|PubMed:16632198, ECO:0000269|PubMed:16972263, ECO:0000269|PubMed:19124534, ECO:0000269|PubMed:21487022, ECO:0000269|PubMed:30174277}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.2.-
uniprot
proteins
function
FUNCTION: Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid at very low rate, though this reaction is not physiologically relevant in vivo (PubMed:21487022). {ECO:0000269|PubMed:21487022, ECO:0000305|PubMed:21487022}.
uniprot
proteins
mass_dalton
42876
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="A->G: The mutant is not cleaved at the N-terminus. Results in increased protein degradation."; /evidence="ECO:0000269|PubMed:21487022
uniprot
proteins
post_translational_modification
PTM: Undergoes cleavage at the N-terminus. {ECO:0000269|PubMed:21487022}.
uniprot
proteins
protein_family
Glyoxalase II family
uniprot
proteins
protein_family
Metallo-beta-lactamase superfamily
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15188056
uniprot
proteins
pubmed
15188498
uniprot
proteins
pubmed
15262732
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15496428
uniprot
proteins
pubmed
15824259
uniprot
proteins
pubmed
16632198
uniprot
proteins
pubmed
16972263
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19124534
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21487022
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30174277
uniprot
proteins
sequence_length
385
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:15496428, ECO:0000269|PubMed:21487022}; Peripheral membrane protein. Mitochondrion {ECO:0000269|PubMed:19124534}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:15496428}. Mitochondrion {ECO:0000269|PubMed:19124534}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion {ECO:0000269|PubMed:15496428}. Golgi apparatus {ECO:0000269|PubMed:19124534}. Endoplasmic reticulum {ECO:0000269|PubMed:19124534}.
uniprot
proteins