VPS35 (VPS35 retromer complex component)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55737 |
Gene nameGene Name - the full gene name approved by the HGNC.
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VPS35 retromer complex component |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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VPS35 |
SynonymsGene synonyms aliases
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MEM3, PARK17 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. Th |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs188286943 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797044948 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005515 |
Function |
Protein binding |
IPI |
11102511, 15078903, 16732284, 17616579, 17891154, 18160348, 19553991, 19619496, 20923837, 21725319, 22719997, 23331060, 23452853, 24344282, 24747528, 25278552, 25416956, 25502805, 26496610, 26618722, 27385586, 27460146, 28514442, 28892079, 31515488, 32296183, 32814053 |
GO:0005739 |
Component |
Mitochondrion |
IDA |
26618722 |
GO:0005764 |
Component |
Lysosome |
IDA |
|
GO:0005765 |
Component |
Lysosomal membrane |
HDA |
17897319 |
GO:0005768 |
Component |
Endosome |
IDA |
15078903, 28892079 |
GO:0005769 |
Component |
Early endosome |
IDA |
18160348, 20164305, 27385586 |
GO:0005770 |
Component |
Late endosome |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
IDA |
11102511 |
GO:0005829 |
Component |
Cytosol |
TAS |
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GO:0006886 |
Process |
Intracellular protein transport |
IBA |
21873635 |
GO:0010008 |
Component |
Endosome membrane |
IDA |
27385586 |
GO:0010628 |
Process |
Positive regulation of gene expression |
IDA |
26618722 |
GO:0010821 |
Process |
Regulation of mitochondrion organization |
IGI |
26618722 |
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016055 |
Process |
Wnt signaling pathway |
NAS |
24115276 |
GO:0016055 |
Process |
Wnt signaling pathway |
TAS |
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GO:0016241 |
Process |
Regulation of macroautophagy |
TAS |
26172538 |
GO:0030904 |
Component |
Retromer complex |
IBA |
21873635 |
GO:0030904 |
Component |
Retromer complex |
IDA |
11102511, 28892079 |
GO:0030904 |
Component |
Retromer complex |
NAS |
18193037 |
GO:0030904 |
Component |
Retromer complex |
TAS |
17239604, 24115276 |
GO:0030906 |
Component |
Retromer, cargo-selective complex |
IDA |
20164305, 27385586 |
GO:0030906 |
Component |
Retromer, cargo-selective complex |
NAS |
26220253 |
GO:0031647 |
Process |
Regulation of protein stability |
IMP |
18193037 |
GO:0031748 |
Function |
D1 dopamine receptor binding |
IPI |
27460146 |
GO:0032268 |
Process |
Regulation of cellular protein metabolic process |
IDA |
26618722 |
GO:0032268 |
Process |
Regulation of cellular protein metabolic process |
IGI |
25533483 |
GO:0036010 |
Process |
Protein localization to endosome |
IMP |
28892079 |
GO:0042147 |
Process |
Retrograde transport, endosome to Golgi |
IBA |
21873635 |
GO:0042147 |
Process |
Retrograde transport, endosome to Golgi |
IMP |
15078903, 26618722, 27385586 |
GO:0042147 |
Process |
Retrograde transport, endosome to Golgi |
NAS |
11102511, 18193037, 26220253 |
GO:0043653 |
Process |
Mitochondrial fragmentation involved in apoptotic process |
IMP |
26618722 |
GO:0045056 |
Process |
Transcytosis |
IDA |
15247922 |
GO:0050728 |
Process |
Negative regulation of inflammatory response |
IGI |
25533483 |
GO:0060161 |
Process |
Positive regulation of dopamine receptor signaling pathway |
IDA |
27460146 |
GO:0060548 |
Process |
Negative regulation of cell death |
IGI |
25533483 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867 |
GO:0090141 |
Process |
Positive regulation of mitochondrial fission |
IMP |
26618722 |
GO:0097422 |
Component |
Tubular endosome |
IDA |
15078903 |
GO:0099073 |
Component |
Mitochondrion-derived vesicle |
IDA |
26618722 |
GO:0099074 |
Process |
Mitochondrion to lysosome transport |
IMP |
26618722 |
GO:0099639 |
Process |
Neurotransmitter receptor transport, endosome to plasma membrane |
IDA |
27460146 |
GO:1901215 |
Process |
Negative regulation of neuron death |
IGI |
25533483 |
GO:1902823 |
Process |
Negative regulation of late endosome to lysosome transport |
IMP |
23563491 |
GO:1902950 |
Process |
Regulation of dendritic spine maintenance |
IMP |
26618722 |
GO:1903364 |
Process |
Positive regulation of cellular protein catabolic process |
IGI |
25533483 |
GO:1905606 |
Process |
Regulation of presynapse assembly |
ISS |
25533483 |
GO:1990126 |
Process |
Retrograde transport, endosome to plasma membrane |
IMP |
20164305, 21602791 |
GO:2000331 |
Process |
Regulation of terminal button organization |
IMP |
26618722 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q96QK1 |
Protein name |
Vacuolar protein sorting-associated protein 35 (hVPS35) (Maternal-embryonic 3) (Vesicle protein sorting 35) |
Protein function |
Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins |
PDB |
2R17
,
5F0J
,
5F0K
,
5F0L
,
5F0M
,
5F0P
,
5OSH
,
5OSI
,
7BLN
,
7BLO
,
8R02
,
8R0J
,
8RKS
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03635 |
Vps35 |
15 → 753 |
Vacuolar protein sorting-associated protein 35 |
Family |
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Sequence |
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Sequence length |
796 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Akinesia |
Akinesia |
rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502 |
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Parkinson disease |
Parkinsonian Disorders, Parkinson Disease, PARKINSON DISEASE 17 |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
25149416, 21763482, 24819384, 24854799, 23395371, 21763483, 22517097, 23408866, 24980502 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21822266 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebral cortical atrophy |
Cerebral cortical atrophy |
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Dementia |
Dementia |
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Dyskinetic syndrome |
Dyskinetic syndrome |
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Dysphagia |
Deglutition Disorders |
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Dyssomnia |
Dyssomnias |
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Hereditary parkinson`s disease |
Hereditary late-onset Parkinson disease |
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Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
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Sleep disorders |
Sleep Disorders |
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