| Gene Information | |
|---|---|
| Gene Name | SYNE1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 8797 |
| Protein Names | Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000131018 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | SYNE1 |
| Uniprot ID | Q8NF91 |
| Pfam | PF00307; PF10541; PF00435 |
| In ASD | no |
| Allosteric Prediction | yes (0.046251508) |
| Ortholog in Animals | Alpaca_ SYNE1 ( ortholog_one2one ) Dog_ SYNE1 ( ortholog_one2one ) Macaque_ SYNE1 ( ortholog_one2one ) Mouse_ Syne1 ( ortholog_one2one ) Rat_ Syne1 ( ortholog_one2one ) Rabbit_ SYNE1 ( ortholog_one2one ) |
| Ohnologs | SYNE2 |
| Paralogs | DSP, SPTBN5, ACTN4, MICAL2, DMD, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, ACTN2, ACTN3, MICAL1, SPTBN1, MACF1, ACTN1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | NA |
| Tissue Specificity | Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level). {ECO:0000269|PubMed:11792814, ECO:0000269|PubMed:11801724, ECO:0000269|PubMed:15093733, ECO:0000269|PubMed:16875688, ECO:0000269|PubMed:22518138}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.071429(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4DXR (X-ray 2.32A ) 6R15 (X-ray 1.82A ) 6XF2 (X-ray 7.11A ) |
| DBSNP | rs9397509 rs17082709 rs214976 rs35763277 rs214950 rs398123005 rs567753957 rs13210127 rs180727534 rs7775119 rs4645434 rs28385621 rs9479297 rs2130262 rs140492158 rs4870093 rs6911096 rs2306916 rs2306916 rs35987150 rs2306914 rs35654757 rs35079654 rs3945783 rs2147377 rs35763277 rs119103246 rs36215251 rs17082236 rs2252755 rs119103247 rs119103248 rs143049227 rs35591210 rs2295190 |
| Subcellular location [CC] | Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.; [Isoform GSRP-56]: Golgi apparatus {ECO:0000269|PubMed:16875688}. |
| Mouse PG classification | NA |
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