UCL Institute of Cardiovascular Science


Parkinson's UK Annotation Initiative

This initiative focused on the annotation of Parkinson's disease-relevant proteins and was funded by a 3-year Parkinson's UK grant (G-1307) from January 2014 to December 2016.

PARK2 protein structure

The Parkinson's UK-funded GO annotations have facilitated the detailed and high-quality annotation of over 800 Parkinson's disease-relevant genes, providing 4,500 GO annotations. There are many ways in with the impact of our curation on data analysis and annotation resources can be demonstrated. Annotations contributed by this project to the GO Consortium dataset are attributed to ParkinsonsUK-UCL.

For this initiative we created two priority gene lists.

  • A high-priority set of 48 Parkinson's disease-relevant genes were selected based on genetic linkage or association studies (see table below).

Our longer Parkinson's-relevant priority list includes 329 gene products. These were chosen based on their interaction with high-priority gene products or because of their role in Parkinson's disease-related biological processes

Priority Parkinson's processes

The following processes were prioritised, following discussions with experts in the field. These processes are considered to have important roles in Parkinson's disease.

High-priority set of Parkinson's disease-relevant genes

Genes in this list were prioritised for comprehensive annotation using GO because variants in these genes have been implicated as having a role in Parkinson's disease, either in published linkage or association studies.

HGNC symbolHGNC namePubMed IdentifierUniProt Identifier (human)
ACMSDaminocarboxymuconate semialdehyde decarboxylase19943343Q8TDX5
ATP13A2ATPase type 13A219943343Q9NQ11
BST1bone marrow stromal cell antigen 19560156Q10588
CCDC62coiled-coil domain containing 6215349860Q6P9F0
DDRGK1DDRGK domain containing 125064009Q96HY6
 DGKQ diacylglycerol kinase, theta 110kDa22438815P52824
EIF4G1eukaryotic translation initiation factor 4 gamma, 111462174Q04637
FAM47Efamily with sequence similarity 47, member E21738487Q6ZV65
FBXO7F-box protein 719038853Q9Y3I1
FGF20fibroblast growth factor 2019943343Q9NP95
GAKcyclin G associated kinase22166458O14976
GBAglucosidase, beta, acid22166458P04062
GCH1GTP cyclohydrolase 125064009P30793
GIGYF2GRB10 interacting GYF protein 222166458Q6Y7W6
GPNMBglycoprotein (transmembrane) nmb21738488Q14956
HIP1Rhuntingtin interacting protein 1 related21738488O75146
HTRA2HtrA serine peptidase 225422467O43464
INPP5Finositol polyphosphate-5-phosphatase F25064009Q9Y2H2
LAMP3lysosomal-associated membrane protein 321738488Q9UQV4
LRRK2leucine-rich repeat kinase 215541308Q5S007
MAPTmicrotubule-associated protein tau9500549P10636
MCCC1methylcrotonoyl-CoA carboxylase 1 (alpha)12402251Q96RQ3
MMP16matrix metallopeptidase 16 (membrane-inserted)12925570P51512
NMD3NMD3 homolog (S. cerevisiae)12928496Q96D46
 NSF N-ethylmaleimide-sensitive factor21812969P46459
NUCKS1nuclear casein kinase and cyclin-dependent kinase substrate 119915575Q9H1E3
PARK2parkin RBR E3 ubiquitin protein ligase21292315O60260
PARK7parkinson protein 721292315Q99497
PINK1PTEN induced putative kinase 121292315Q9BXM7
RAB29RAB29, member RAS oncogene family21292315O14966
 RIT2 Ras-like without CAAX 222451204Q99578
SCARB2scavenger receptor class B, member 221738487Q14108
SETD1ASET domain containing 1A21738488O15047
SIPA1L2signal-induced proliferation-associated 1 like 225064009Q9P2F8
 SLC41A1 solute carrier family 41 (magnesium transporter), member 119915576Q8IVJ1
 SLC45A3 solute carrier family 45, member 319915576Q96JT2
SNCAsynuclein, alpha (non A4 component of amyloid precursor)21292315P37840
STBD1starch binding domain 121738488O95210
STK39serine threonine kinase 3921738488Q9UEW8
STX1Bsyntaxin 1B21738488P61266
SYNJ1synaptojanin 123804577O43426
 SYT4 synaptotagmin IV22451204Q9H2B2
SYT11synaptotagmin XI21292315Q9BT88
TAF1TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa21292315P21675
 UNC13B unc-13 homolog B (C. elegans)21812969O14795
VPS13Cvacuolar protein sorting 13 homolog C (S. cerevisiae)25064009Q709C8
VPS35vacuolar protein sorting 35 homolog (S. cerevisiae)21292315Q96QK1
 WNT3 wingless-type MMTV integration site family, member 3  

HUGO Gene Nomenclature Committee (HGNC) approved gene symbols and names are listed, the PubMed identifiers indicate the publication describing the association with Parkinson's disease, and the UniProt IDs link to the QuickGO Gene Ontology annotations for each protein. Genes identified in genome-wide association studies are those suggested by the authors to be the most likely candidates and genes known to contain causative variants are highlighted in bold font.

Image credit: By Emw (Own work) [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0) or GFDL (http://www.gnu.org/copyleft/fdl.html)], via Wikimedia Commons