Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9627
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Synuclein alpha interacting protein |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SNCAIP |
Synonyms (NCBI Gene)
Gene synonyms aliases
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SYPH1, Sph1 |
Chromosome
Chromosome number
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5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q23.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a ro |
UniProt ID |
Q9Y6H5
|
Protein name |
Synphilin-1 (Sph1) (Alpha-synuclein-interacting protein) |
Protein function |
Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform |
PDB |
2KES
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12796
|
Ank_2 |
322 → 416 |
Ankyrin repeats (3 copies) |
Repeat |
PF12796
|
Ank_2 |
406 → 487 |
Ankyrin repeats (3 copies) |
Repeat |
PF16700
|
SNCAIP_SNCA_bd |
512 → 557 |
Synphilin-1 alpha-Synuclein-binding domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta. {ECO:0000269|PubMed:10319874, ECO:0000269|PubMed:16595633}. |
Sequence |
|
Sequence length |
919 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Parkinson disease |
Parkinsonian Disorders, PARKINSON DISEASE, LATE-ONSET |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, 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 View all (84 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Depressive disorder |
|
|
ClinVar |
Renal Carcinoma |
Renal Carcinoma |
|
|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
|
35633541 |
Carcinoma Renal Cell |
Associate
|
33062672 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
14627698 |
Hyperphagia |
Associate
|
25545246 |
Lewy Body Disease |
Associate
|
11331421, 15728840, 16174773, 18366718, 26465922 |
Medulloblastoma |
Associate
|
22832581 |
Multiple System Atrophy |
Associate
|
26465922 |
Neoplasms |
Associate
|
35633541 |
Neurodegenerative Diseases |
Associate
|
33562355 |
Obesity |
Associate
|
25545246 |
Parkinson Disease |
Associate
|
11331421, 14756800, 15728840, 16595633, 18366718, 18635553, 20604806, 21130735, 22832581, 26465922, 34148545, 39766295, 40369541 |
Plaque Amyloid |
Associate
|
21130735 |
Spinocerebellar Degenerations |
Associate
|
19211984 |
Synucleinopathies |
Associate
|
16595633, 26465922 |
Urologic Diseases |
Associate
|
34573432 |
|