SYNE1
Summary: This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| spectrin repeat containing nuclear envelope protein 1 | MIM:608441 | Ensembl:ENSG00000131018 | HGNC:HGNC:17089 | PA134975331 | 6q25.2 |
GO terms in SYNE1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IDA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0005521 | lamin binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | ISS | GO:0042803 | protein homodimerization activity |
| MF | ISS | GO:0051015 | actin filament binding |
| CC | IDA | GO:0000932 | P-body |
| CC | HDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005635 | nuclear envelope |
| CC | IEA | GO:0005640 | nuclear outer membrane |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0030017 | sarcomere |
| CC | IDA | GO:0031965 | nuclear membrane |
| CC | IDA | GO:0034993 | meiotic nuclear membrane microtubule tethering complex |
| CC | IDA | GO:0045211 | postsynaptic membrane |
| BP | NAS | GO:0006997 | nucleus organization |
| BP | IDA | GO:0007030 | Golgi organization |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IDA | GO:0042692 | muscle cell differentiation |
| BP | IDA | GO:0090286 | cytoskeletal anchoring at nuclear membrane |
| BP | IDA | GO:0090292 | nuclear matrix anchoring at nuclear membrane |
Gene expression in normal tissue: SYNE1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SYNE1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1221632 | Meiotic synapsis |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SYNE1
CLASSFICATION
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