Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Transmemebrane
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000127838 Gene ID 25953 Accession 9153
Symbol PNKD Alias R1;MR1;PDC;DYT8;FPD1;MR-1;BRP17;MR-1S;PKND1;PNKD1;FKSG19;TAHCCP2;KIPP1184 Full Name PNKD metallo-beta-lactamase domain containing
Status Confidence Length 76402 bases Strand Plus strand
Position 2 : 218270392 - 218346793 RNA binding domain Lactamase_B
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000258362 Lactamase_B PF00753 1.1e-09 1
ENSP00000273077 Lactamase_B PF00753 1.4e-09 1
ENSP00000508635 Lactamase_B PF00753 1.5e-09 1
ENSP00000510415 Lactamase_B PF00753 2.1e-09 1
ENSP00000508450 Lactamase_B PF00753 5.9e-09 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
PNKD-217 ENST00000691799 2203 No protein -
PNKD-201 ENST00000248451 758 142aa ENSP00000248451
PNKD-206 ENST00000472650 1235 No protein -
PNKD-211 ENST00000688179 2832 344aa ENSP00000508635
PNKD-214 ENST00000689816 2919 373aa ENSP00000508450
PNKD-209 ENST00000685415 3100 424aa ENSP00000510415
PNKD-204 ENST00000436005 2974 382aa ENSP00000414400
PNKD-203 ENST00000273077 2987 385aa ENSP00000273077
PNKD-205 ENST00000469689 1372 No protein -
PNKD-218 ENST00000692260 1630 No protein -
PNKD-208 ENST00000684905 3719 No protein -
PNKD-210 ENST00000687736 2753 325aa ENSP00000509627
PNKD-215 ENST00000690891 3106 78aa ENSP00000509744
PNKD-216 ENST00000691220 2580 258aa ENSP00000509580
PNKD-207 ENST00000494954 248 No protein -
PNKD-202 ENST00000258362 2991 361aa ENSP00000258362
PNKD-220 ENST00000693423 2308 56aa ENSP00000508705
PNKD-219 ENST00000692295 2601 265aa ENSP00000509392
PNKD-212 ENST00000689098 3625 No protein -
PNKD-213 ENST00000689693 3758 No protein -
PNKD-221 ENST00000693556 2255 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
62041Inflammatory Bowel Diseases4E-1223128233
80107Colitis, Ulcerative2E-826192919
94552Crohn Disease4E-926192919
100689Inflammatory Bowel Diseases2E-728067908

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0004416enables hydroxyacylglutathione hydrolase activity1IEAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IEAHomo_sapiens(9606)Component
GO:0005739is_active_in mitochondrion2IBA,IDAHomo_sapiens(9606)Component
GO:0016020located_in membrane1IDAHomo_sapiens(9606)Component
GO:0019243involved_in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione1IEAHomo_sapiens(9606)Process
GO:0032225involved_in regulation of synaptic transmission, dopaminergic1IEAHomo_sapiens(9606)Process
GO:0042053involved_in regulation of dopamine metabolic process1IEAHomo_sapiens(9606)Process
GO:0046872enables metal ion binding1IEAHomo_sapiens(9606)Function
GO:0046929involved_in negative regulation of neurotransmitter secretion1IMPHomo_sapiens(9606)Process
GO:0050884involved_in neuromuscular process controlling posture1IEAHomo_sapiens(9606)Process
GO:0099523located_in presynaptic cytosol1IEAHomo_sapiens(9606)Component

Expression