SNCAIP - synuclein alpha interacting protein Gene
Also Known as Sph1; SYPH1
Species: Homo sapiens
About SNCAIP
This gene has 19 transcripts (splice variants), 191 orthologues and is associated with 1 phenotype. Biased expression in ovary (RPKM 8.3), endometrium (RPKM 6.2) and 11 other tissues.
Summary
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 role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SNCAIP Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001242935.3 | NP_001229864.1 | synphilin-1 isoform 1A |
| NM_001308100.2 | NP_001295029.1 | synphilin-1 isoform 2 |
| NM_001308105.1 | NP_001295034.1 | synphilin-1 isoform B |
| NM_001308106.1 | NP_001295035.1 | synphilin-1 isoform D |
| NM_001308107.2 | NP_001295036.1 | synphilin-1 isoform E |
| NM_001308108.1 | NP_001295037.1 | synphilin-1 isoform F |
| NM_001308109.2 | NP_001295038.1 | synphilin-1 isoform G |
| NM_005460.4 | NP_005451.2 | synphilin-1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
19762560 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10319874 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
15728840 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cell death |
IDA
IDA: Inferred from direct assay
|
16595633 | GOA |
| acts upstream of or within dopamine metabolic process |
IDA
IDA: Inferred from direct assay
|
14506261 | GOA |
| involved in regulation of inclusion body assembly |
IDA
IDA: Inferred from direct assay
|
15603737 | GOA |
| acts upstream of or within regulation of neurotransmitter secretion |
IDA
IDA: Inferred from direct assay
|
14506261 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
14506261 | GOA |
SNCAIP Protein Structure
Ank_2: Ankyrin repeats (3 copies) (326 - 407)
Ank_2: Ankyrin repeats (3 copies) (425 - 510)
- 0
- 200
- 400
- 600
- 800
- 919 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
synphilin-1 |
|
SNCAIP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 12044636 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 19762560 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 19762560 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 10319874 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 10319874 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 19762560 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCAIP | Homo sapiens | Q9Y6H5 | 19762560 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCAIP | Homo sapiens | Q9Y6H5 | 19762560 | |
|
Intra
|
SNCAIP | Q9Y6H5 | SNCA | Homo sapiens | P37840 | 19762560 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Parkinson Disease, Late-Onset |
|
|
| Parkinson Disease 3, Autosomal Dominant |
|
|
| Dementia |
|
|
| Dementia, Lewy Body |
|
|
| Juvenile-Onset Parkinson'S Disease |
|
|
| Movement Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SNCAIP | VGNC | VGNC:46597 |
| Macaca mulatta | SNCAIP | VGNC | VGNC:77669 |
| Felis catus | SNCAIP | VGNC | VGNC:65525 |
| Bos taurus | SNCAIP | VGNC | VGNC:35060 |
| Rattus norvegicus | SNCAIP | RGD | RGD:1309283 |
| Mus musculus | SNCAIP | MGD | MGI:1915097 |
| Others | SNCAIP | NCBI |