Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SYNE1 | 23345 | spectrin repeat containing, nuclear envelope 1  | 6 | SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 24280874    | 2014 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 93 CRC patients and 30 healthy controls. Stage : - | Methylation-specific PCR | Hypermethylation | - | FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue. Promoter methylation analysis of these genes might be a useful marker of neoplasia in long-standing IBD. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | |
| Description | 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.   | Chromosome | 6 |
| Location | 6q24.2-q25 |
| Start | 152121684   |
| End | 152637399   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 515716   |
| OMIM ID | 608441    |
| HGNC ID | HGNC:17089    |
| Unigene ID | Hs.12967    |
| Ensembl ID | ENSG00000131018    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_182961.3 |
|---|---|
| Exon | join(1..211,595..762,8846..9135,97379..97440, 111225..111320,116858..116941,126297..126389, 127029..127207,132003..132199,134658..134767, 138608..138658,148897..149004,152428..152565, 154151..154315,164987..165099,165635..165803, 171322..171418,171940..172142,173883..174047, 174510..174662,175660..175803,178470..178643, 181356..181514,181810..181974,183680..183814, 186195..186353,186567..186775,187759..187867, 189778..189942,192822..192989,195155..195325, 196130..196270,201299..201459,203455..203605, 206691..206918,207190..207288,209008..209195, 209584..209707,211853..212019,217678..217831, 220385..221013,223869..224048,227691..227841, 228174..228332,230204..230386,233086..233187,   | mRNA Sequence |    Download   Select all |
| Length | 27439   |
CDS Information
| Location | join(9069..9135,97379..97440,111225..111320, 116858..116941,126297..126389,127029..127207, 132003..132199,134658..134767,148897..149004, 152428..152565,154151..154315,164987..165099, 165635..165803,171322..171418,171940..172142, 173883..174047,174510..174662,175660..175803, 178470..178643,181356..181514,181810..181974, 183680..183814,186195..186353,18 |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | - |    
Protein Information
| Protein ID | NP_149062.1 |
|---|---|
| Protein Name | spectrin repeat containing, nuclear envelope 1 |
| Molecular Wt. (Da) | 1005055 |
| Protein Sequence |    Download   Select all |
| Length | 8749   |
| Uniprot ID | P27701 |    
| Ensembl Protein ID | ENSP00000227155   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 8280;- |
| S | Phosphorylation | 8277;- |
| S | Phosphorylation | 442;- |
| S | Phosphorylation | 439;- |
| S | Phosphorylation | 8209;- |
| S | Phosphorylation | 8206;- |
| S | Phosphorylation | 2801;- |
| S | Phosphorylation | 2804;- |
| S | Phosphorylation | 8223;- |
| S | Phosphorylation | 385;- |
| S | Phosphorylation | 8152;- |
| S | Phosphorylation | 2747;- |
| T | Phosphorylation | 8274;- |
| S | Phosphorylation | 8270;- |
| S | Phosphorylation | 432;- |
| T | Phosphorylation | 436;- |
| T | Phosphorylation | 8203;- |
| S | Phosphorylation | 8199;- |
| S | Phosphorylation | 2794;- |
| T | Phosphorylation | 2798;- |
| S | Phosphorylation | 8345;- |
| S | Phosphorylation | 530;- |
| S | Phosphorylation | 8297;- |
| S | Phosphorylation | 2869;- |
| S | Phosphorylation | 1327;- |
| S | Phosphorylation | 1334;- |
| Y | Phosphorylation | 4818;- |
| S | Phosphorylation | 4820;- |
| Y | Phosphorylation | 4747;- |
| S | Phosphorylation | 4749;- |
| S | Phosphorylation | 3574 |
| S | Phosphorylation | 3581 |
| T | Phosphorylation | 3891 |
| T | Phosphorylation | 3876 |
| S | Phosphorylation | 8358 |
| S | Phosphorylation | 543 |
| S | Phosphorylation | 8310 |
| S | Phosphorylation | 2882 |
| Y | Phosphorylation | 8032 |
| T | Phosphorylation | 8033 |
| Y | Phosphorylation | 194 |
| T | Phosphorylation | 195 |
| Y | Phosphorylation | 7961 |
| T | Phosphorylation | 7962 |
| Y | Phosphorylation | 2556 |
| T | Phosphorylation | 2557 |
| S | Phosphorylation | 1728 |
| S | Phosphorylation | 1735 |
| T | Phosphorylation | 8360 |
| T | Phosphorylation | 545 |
| T | Phosphorylation | 8312 |
| T | Phosphorylation | 2884 |
| T | Phosphorylation | 2978 |
| T | Phosphorylation | 2985 |
| T | Phosphorylation | 4511 |
| T | Phosphorylation | 4440 |
| Y | Phosphorylation | 5968 |
| S | Phosphorylation | 5976 |
| T | Phosphorylation | 5977 |
| Y | Phosphorylation | 5897 |
| S | Phosphorylation | 5905 |
| T | Phosphorylation | 5906 |
| Y | Phosphorylation | 492 |
| S | Phosphorylation | 500 |
| T | Phosphorylation | 501 |
| S | Phosphorylation | 7097 |
| S | Phosphorylation | 7102 |
| T | Phosphorylation | 7103 |
| S | Phosphorylation | 7026 |
| S | Phosphorylation | 7031 |
| T | Phosphorylation | 7032 |
| S | Phosphorylation | 1621 |
| S | Phosphorylation | 1626 |
| T | Phosphorylation | 1627 |
| S | Phosphorylation | 2377 |
| S | Phosphorylation | 2384 |
| S | Phosphorylation | 165 |
| S | Phosphorylation | 172 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 70 |    ACTC1 |    15 |    NP_005150.1 |    in vivo |    12408964    |
| 2010 |    EMD |    2309 |    NP_000108.1 |    in vitro |    12163176    |
| 4000 |    LMNA |    1035 |    CAA27173.1 |    in vitro;in vivo |    11801724    |
| 4593 |    MUSK |    3190 |    NP_005583.1 |    in vivo |    10878022    |
| 27185 |    DISC1 |    5553 |    NP_061132.2 |    in vivo;yeast 2-hybrid |    12812986    |
Pathway Information
No matching records could be found.
Structure Information
| PDB ID | 4DXR |
|---|---|
| Resolution | 2.32 |
| Method | X-RAY DIFFRACTION |
| Chains | B   |
| Molecule | Nesprin-1   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00176 | 8000-8210  | SPEC |
| cl02488 | 8000-8210  | SPEC superfamily |
| cd00176 | 8441-8660  | SPEC |
| cl02488 | 8441-8660  | SPEC superfamily |
| cd00176 | 7781-7996  | SPEC |
| cl02488 | 7781-7996  | SPEC superfamily |
| cd00014 | 28-134  | CH |
| cl00030 | 28-134  | CH superfamily |
| cd00014 | 179-283  | CH |
| cl00030 | 179-283  | CH superfamily |
| cd00176 | 7353-7555  | SPEC |
| cl02488 | 7353-7555  | SPEC superfamily |
| cd00176 | 7034-7232  | SPEC |
| cl02488 | 7034-7232  | SPEC superfamily |
| cd00176 | 3817-4035  | SPEC |
| cl02488 | 3817-4035  | SPEC superfamily |
| cd00176 | 6914-7125  | SPEC |
| cl02488 | 6914-7125  | SPEC superfamily |
| cd00176 | 4996-5209  | SPEC |
| cl02488 | 4996-5209  | SPEC superfamily |
| cd00176 | 3177-3388  | SPEC |
| cl02488 | 3177-3388  | SPEC superfamily |
| cd00176 | 2410-2615  | SPEC |
| cl02488 | 2410-2615  | SPEC superfamily |
| cd00176 | 3065-3276  | SPEC |
| cl02488 | 3065-3276  | SPEC superfamily |
| cd00176 | 1656-1867  | SPEC |
| cl02488 | 1656-1867  | SPEC superfamily |
| cd00176 | 2516-2732  | SPEC |
| cl02488 | 2516-2732  | SPEC superfamily |
| cd00176 | 7457-7668  | SPEC |
| cl02488 | 7457-7668  | SPEC superfamily |
| pfam00307 | 181-283  | CH |
| smart00033 | 31-132  | CH |
| pfam10541 | 8765-8796  | KASH |
| cl11173 | 8765-8796  | KASH superfamily |
| smart00033 | 182-278  | CH |
| pfam00307 | 30-134  | CH |
| cd00176 | 7888-8096  | SPEC |
| smart00150 | 8443-8546  | SPEC |
| cd00176 | 7697-7884  | SPEC |
| cd00176 | 8417-8549  | SPEC |
| cd00176 | 3923-4149  | SPEC |
| smart00150 | 8111-8210  | SPEC |
| pfam00435 | 8440-8547  | Spectrin |
| cd00176 | 1553-1762  | SPEC |
| cd00176 | 2339-2513  | SPEC |
| cd00176 | 5102-5322  | SPEC |
| cd00176 | 7161-7349  | SPEC |
| cl02488 | 7161-7349  | SPEC superfamily |
| cd00176 | 4266-4452  | SPEC |
| cl02488 | 4266-4452  | SPEC superfamily |
| smart00150 | 7785-7881  | SPEC |
| cd00176 | 1447-1654  | SPEC |
| cl02488 | 1447-1654  | SPEC superfamily |
| cd00176 | 4345-4558  | SPEC |
| cd00176 | 3390-3595  | SPEC |
| cl02488 | 3390-3595  | SPEC superfamily |
| cd00176 | 6796-7018  | SPEC |
| cl02488 | 6796-7018  | SPEC superfamily |
| cd00176 | 4141-4337  | SPEC |
| cl02488 | 4141-4337  | SPEC superfamily |
| cd00176 | 5964-6185  | SPEC |
| cl02488 | 5964-6185  | SPEC superfamily |
| pfam00435 | 7785-7882  | Spectrin |
| cd00176 | 5528-5690  | SPEC |
| cl02488 | 5528-5690  | SPEC superfamily |
| smart00150 | 8002-8104  | SPEC |
| cd00176 | 4888-5081  | SPEC |
| cl02488 | 4888-5081  | SPEC superfamily |
| smart00150 | 7888-7995  | SPEC |
| pfam00435 | 7352-7452  | Spectrin |
| smart00150 | 7459-7555  | SPEC |
| cd00176 | 5935-6072  | SPEC |
| cd00176 | 5636-5835  | SPEC |
| cl02488 | 5636-5835  | SPEC superfamily |
| smart00150 | 7026-7126  | SPEC |
| cd00176 | 7259-7455  | SPEC |
| smart00150 | 7159-7232  | SPEC |
| pfam00435 | 8109-8210  | Spectrin |
| pfam00435 | 7026-7114  | Spectrin |
| pfam11971 | 200-262  | CAMSAP_CH |
| smart00150 | 7355-7452  | SPEC |
| smart00150 | 3178-3276  | SPEC |
| cd00176 | 4486-4670  | SPEC |
| cl02488 | 4486-4670  | SPEC superfamily |
| smart00150 | 2520-2617  | SPEC |
| COG5069 | 24-280  | SAC6 |
| TIGR02168 | 4963-5798  | SMC_prok_B |
| COG1196 | 1416-2145  | Smc |
| COG0419 | 5319-5800  | SbcC |
| COG1196 | 5352-6198  | Smc |
| TIGR02168 | 1411-2066  | SMC_prok_B |
| TIGR02168 | 1412-2269  | SMC_prok_B |
| TIGR02168 | 2333-3116  | SMC_prok_B |
| TIGR02168 | 5498-6196  | SMC_prok_B |
| COG1196 | 5106-5801  | Smc |
| COG0419 | 5352-5799  | SbcC |
| COG1196 | 4717-5657  | Smc |
| COG1196 | 5418-5809  | Smc |
| COG0419 | 5129-5683  | SbcC |
| COG1196 | 1462-1763  | Smc |
| COG1196 | 7660-7938  | Smc |
| TIGR00618 | 5219-5835  | sbcc |
| COG4942 | 5390-5664  | EnvC |
| TIGR02169 | 5394-5755  | SMC_prok_A |
| TIGR02168 | 4755-5595  | SMC_prok_B |
| TIGR02168 | 1800-2497  | SMC_prok_B |
| COG4372 | 5509-5844  | COG4372 |
| TIGR02169 | 1423-1706  | SMC_prok_A |
| TIGR02168 | 5352-6084  | SMC_prok_B |
| TIGR01612 | 1685-2561  | 235kDa-fam |
| COG1196 | 4751-5547  | Smc |
| pfam05557 | 3722-4338  | MAD |
| COG1196 | 4157-4991  | Smc |
| pfam13514 | 5103-5805  | AAA_27 |
| TIGR02168 | 4156-4994  | SMC_prok_B |
| COG1196 | 1416-1760  | Smc |
| TIGR02169 | 4139-4432  | SMC_prok_A |
| COG0419 | 5299-5805  | SbcC |
| COG0419 | 1480-2047  | SbcC |
| COG1196 | 2875-3670  | Smc |
| TIGR02168 | 747-1000  | SMC_prok_B |
| TIGR02169 | 5934-6107  | SMC_prok_A |
| pfam13514 | 4895-5786  | AAA_27 |
| PRK11281 | 5227-5531  | PRK11281 |
| pfam13514 | 5938-6328  | AAA_27 |
| TIGR02169 | 4763-5550  | SMC_prok_A |
| COG1196 | 1411-1663  | Smc |
| TIGR02168 | 5939-6258  | SMC_prok_B |
| PRK02224 | 2270-2932  | PRK02224 |
| TIGR02169 | 7647-7938  | SMC_prok_A |
| PRK03918 | 5407-5805  | PRK03918 |
| TIGR02168 | 7209-7932  | SMC_prok_B |
| pfam07111 | 5419-6116  | HCR |
| PRK03918 | 5318-5680  | PRK03918 |
| pfam07111 | 5600-6191  | HCR |
| TIGR02169 | 5352-6204  | SMC_prok_A |
| COG1196 | 4172-4991  | Smc |
| TIGR02168 | 1246-1536  | SMC_prok_B |
| COG0497 | 5355-5656  | RecN |
| COG1196 | 2231-2891  | Smc |
| COG1511 | 6417-6939  | YhgE |
| COG1196 | 5934-6714  | Smc |
| pfam02463 | 4917-5683  | SMC_N |
| TIGR02168 | 1627-2024  | SMC_prok_B |
| COG0419 | 3407-3936  | SbcC |
| COG0419 | 5068-5650  | SbcC |
| TIGR02169 | 5478-5836  | SMC_prok_A |
| TIGR04523 | 5359-5644  | Mplasa_alph_rch |
| COG5281 | 5530-5800  | COG5281 |
| TIGR02169 | 5322-5657  | SMC_prok_A |
| PRK04778 | 5522-5798  | PRK04778 |
| COG1196 | 3848-4164  | Smc |
| PRK03918 | 5105-5653  | PRK03918 |
| pfam13166 | 5345-5680  | AAA_13 |
| COG1196 | 4101-4347  | Smc |
| TIGR02168 | 2989-3668  | SMC_prok_B |
| PRK02224 | 4761-5234  | PRK02224 |
| COG1196 | 6449-6756  | Smc |
| PRK03918 | 5344-5801  | PRK03918 |
| TIGR00618 | 1485-2035  | sbcc |
| COG0419 | 1219-1768  | SbcC |
| TIGR02168 | 5136-5832  | SMC_prok_B |
| PRK01156 | 2059-2670  | PRK01156 |
| COG1196 | 1871-2580  | Smc |
| TIGR04523 | 5200-5645  | Mplasa_alph_rch |
| COG4372 | 5309-5527  | COG4372 |
| COG0419 | 7650-8230  | SbcC |
| COG1196 | 4067-4827  | Smc |
| pfam13514 | 5401-5752  | AAA_27 |
| TIGR00606 | 4758-5683  | rad50 |
| PRK01156 | 1953-2252  | PRK01156 |
| COG0419 | 3748-4333  | SbcC |
| TIGR02169 | 5940-6254  | SMC_prok_A |
Ontology Information
| HPRD ID | 6341 |    
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Voltage-gated ion channel activity (GO:0005244) |
| Biological Process | Transport (GO:0006810)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
