The protein contains 140 amino acids for an estimated molecular weight of 14460 Da.
Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Plays also a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590). (updated: Feb. 13, 2019)
Protein identification was indicated in the following studies:
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
---|---|---|---|---|---|
Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology.
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Variant | Description |
---|---|
PARK1 | |
PARK1 and DLB | |
PARK1 | |
PARK1 |
The reference OMIM entry for this protein is 127750
A number sign (#) is used with this entry because dementia with Lewy bodies (DLB) can be caused by mutation in the alpha-synuclein (SNCA; 163890) or beta-synuclein (SNCB; 602569) genes. Familial Parkinson disease-1 (PARK1; 168601) is associated with mutation in the SNCA gene. The epsilon-4 allele of the APOE gene (107741) and the B allele of the CYP2D6 gene (124030), a cytochrome P-450 monooxygenase, have also been implicated in DLB. A mutation in the prion protein gene (PRNP; see 176640.0017) has been identified in 1 patient with DLB. Some patients with a diagnosis consistent with Lewy body disease or dementia have mutations in the LRRK2 gene (609007), which is associated with Parkinson disease-8 (PARK8; 607060) (Giasson et al., 2006; Ross et al., 2006). One family with a mutation in the PSEN2 gene (600759.0009), usually associated with Alzheimer disease-4 (AD4; 606889), had clinical and neuropathologic findings consistent with DLB (Piscopo et al., 2008).
Feb. 22, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 127750 was added.
Jan. 27, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed