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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
SYNE1 23345 spectrin repeat containing, nuclear envelope 1  6SYNE-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   2014Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : 93 CRC patients and 30 healthy controls.

Stage : -

Methylation-specific PCRHypermethylation-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



Chromosome 6 - NC_000006.12 (152121684..152637399, complement)

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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

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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

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Length 27439  



CDS Information


   
Locationjoin(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

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CCDS ID -



Protein Information


      
Protein IDNP_149062.1
Protein Namespectrin repeat containing, nuclear envelope 1
Molecular Wt. (Da)1005055
Protein Sequence

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Length 8749  
Uniprot IDP27701
Ensembl Protein ID ENSP00000227155  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation8280;-
SPhosphorylation8277;-
SPhosphorylation442;-
SPhosphorylation439;-
SPhosphorylation8209;-
SPhosphorylation8206;-
SPhosphorylation2801;-
SPhosphorylation2804;-
SPhosphorylation8223;-
SPhosphorylation385;-
SPhosphorylation8152;-
SPhosphorylation2747;-
TPhosphorylation8274;-
SPhosphorylation8270;-
SPhosphorylation432;-
TPhosphorylation436;-
TPhosphorylation8203;-
SPhosphorylation8199;-
SPhosphorylation2794;-
TPhosphorylation2798;-
SPhosphorylation8345;-
SPhosphorylation530;-
SPhosphorylation8297;-
SPhosphorylation2869;-
SPhosphorylation1327;-
SPhosphorylation1334;-
YPhosphorylation4818;-
SPhosphorylation4820;-
YPhosphorylation4747;-
SPhosphorylation4749;-
SPhosphorylation3574
SPhosphorylation3581
TPhosphorylation3891
TPhosphorylation3876
SPhosphorylation8358
SPhosphorylation543
SPhosphorylation8310
SPhosphorylation2882
YPhosphorylation8032
TPhosphorylation8033
YPhosphorylation194
TPhosphorylation195
YPhosphorylation7961
TPhosphorylation7962
YPhosphorylation2556
TPhosphorylation2557
SPhosphorylation1728
SPhosphorylation1735
TPhosphorylation8360
TPhosphorylation545
TPhosphorylation8312
TPhosphorylation2884
TPhosphorylation2978
TPhosphorylation2985
TPhosphorylation4511
TPhosphorylation4440
YPhosphorylation5968
SPhosphorylation5976
TPhosphorylation5977
YPhosphorylation5897
SPhosphorylation5905
TPhosphorylation5906
YPhosphorylation492
SPhosphorylation500
TPhosphorylation501
SPhosphorylation7097
SPhosphorylation7102
TPhosphorylation7103
SPhosphorylation7026
SPhosphorylation7031
TPhosphorylation7032
SPhosphorylation1621
SPhosphorylation1626
TPhosphorylation1627
SPhosphorylation2377
SPhosphorylation2384
SPhosphorylation165
SPhosphorylation172

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
70ACTC115NP_005150.1in vivo12408964   
2010EMD2309NP_000108.1in vitro12163176   
4000LMNA1035CAA27173.1in vitro;in vivo11801724   
4593MUSK3190NP_005583.1in vivo10878022   
27185DISC15553NP_061132.2in vivo;yeast 2-hybrid12812986   


Pathway Information


No matching records could be found.

Structure Information


PDB ID4DXR
Resolution2.32
MethodX-RAY DIFFRACTION
Chains B  
Molecule Nesprin-1  
Model View



Domain Information




ID Location Description
cd001768000-8210  SPEC
cl024888000-8210  SPEC superfamily
cd001768441-8660  SPEC
cl024888441-8660  SPEC superfamily
cd001767781-7996  SPEC
cl024887781-7996  SPEC superfamily
cd0001428-134  CH
cl0003028-134  CH superfamily
cd00014179-283  CH
cl00030179-283  CH superfamily
cd001767353-7555  SPEC
cl024887353-7555  SPEC superfamily
cd001767034-7232  SPEC
cl024887034-7232  SPEC superfamily
cd001763817-4035  SPEC
cl024883817-4035  SPEC superfamily
cd001766914-7125  SPEC
cl024886914-7125  SPEC superfamily
cd001764996-5209  SPEC
cl024884996-5209  SPEC superfamily
cd001763177-3388  SPEC
cl024883177-3388  SPEC superfamily
cd001762410-2615  SPEC
cl024882410-2615  SPEC superfamily
cd001763065-3276  SPEC
cl024883065-3276  SPEC superfamily
cd001761656-1867  SPEC
cl024881656-1867  SPEC superfamily
cd001762516-2732  SPEC
cl024882516-2732  SPEC superfamily
cd001767457-7668  SPEC
cl024887457-7668  SPEC superfamily
pfam00307181-283  CH
smart0003331-132  CH
pfam105418765-8796  KASH
cl111738765-8796  KASH superfamily
smart00033182-278  CH
pfam0030730-134  CH
cd001767888-8096  SPEC
smart001508443-8546  SPEC
cd001767697-7884  SPEC
cd001768417-8549  SPEC
cd001763923-4149  SPEC
smart001508111-8210  SPEC
pfam004358440-8547  Spectrin
cd001761553-1762  SPEC
cd001762339-2513  SPEC
cd001765102-5322  SPEC
cd001767161-7349  SPEC
cl024887161-7349  SPEC superfamily
cd001764266-4452  SPEC
cl024884266-4452  SPEC superfamily
smart001507785-7881  SPEC
cd001761447-1654  SPEC
cl024881447-1654  SPEC superfamily
cd001764345-4558  SPEC
cd001763390-3595  SPEC
cl024883390-3595  SPEC superfamily
cd001766796-7018  SPEC
cl024886796-7018  SPEC superfamily
cd001764141-4337  SPEC
cl024884141-4337  SPEC superfamily
cd001765964-6185  SPEC
cl024885964-6185  SPEC superfamily
pfam004357785-7882  Spectrin
cd001765528-5690  SPEC
cl024885528-5690  SPEC superfamily
smart001508002-8104  SPEC
cd001764888-5081  SPEC
cl024884888-5081  SPEC superfamily
smart001507888-7995  SPEC
pfam004357352-7452  Spectrin
smart001507459-7555  SPEC
cd001765935-6072  SPEC
cd001765636-5835  SPEC
cl024885636-5835  SPEC superfamily
smart001507026-7126  SPEC
cd001767259-7455  SPEC
smart001507159-7232  SPEC
pfam004358109-8210  Spectrin
pfam004357026-7114  Spectrin
pfam11971200-262  CAMSAP_CH
smart001507355-7452  SPEC
smart001503178-3276  SPEC
cd001764486-4670  SPEC
cl024884486-4670  SPEC superfamily
smart001502520-2617  SPEC
COG506924-280  SAC6
TIGR021684963-5798  SMC_prok_B
COG11961416-2145  Smc
COG04195319-5800  SbcC
COG11965352-6198  Smc
TIGR021681411-2066  SMC_prok_B
TIGR021681412-2269  SMC_prok_B
TIGR021682333-3116  SMC_prok_B
TIGR021685498-6196  SMC_prok_B
COG11965106-5801  Smc
COG04195352-5799  SbcC
COG11964717-5657  Smc
COG11965418-5809  Smc
COG04195129-5683  SbcC
COG11961462-1763  Smc
COG11967660-7938  Smc
TIGR006185219-5835  sbcc
COG49425390-5664  EnvC
TIGR021695394-5755  SMC_prok_A
TIGR021684755-5595  SMC_prok_B
TIGR021681800-2497  SMC_prok_B
COG43725509-5844  COG4372
TIGR021691423-1706  SMC_prok_A
TIGR021685352-6084  SMC_prok_B
TIGR016121685-2561  235kDa-fam
COG11964751-5547  Smc
pfam055573722-4338  MAD
COG11964157-4991  Smc
pfam135145103-5805  AAA_27
TIGR021684156-4994  SMC_prok_B
COG11961416-1760  Smc
TIGR021694139-4432  SMC_prok_A
COG04195299-5805  SbcC
COG04191480-2047  SbcC
COG11962875-3670  Smc
TIGR02168747-1000  SMC_prok_B
TIGR021695934-6107  SMC_prok_A
pfam135144895-5786  AAA_27
PRK112815227-5531  PRK11281
pfam135145938-6328  AAA_27
TIGR021694763-5550  SMC_prok_A
COG11961411-1663  Smc
TIGR021685939-6258  SMC_prok_B
PRK022242270-2932  PRK02224
TIGR021697647-7938  SMC_prok_A
PRK039185407-5805  PRK03918
TIGR021687209-7932  SMC_prok_B
pfam071115419-6116  HCR
PRK039185318-5680  PRK03918
pfam071115600-6191  HCR
TIGR021695352-6204  SMC_prok_A
COG11964172-4991  Smc
TIGR021681246-1536  SMC_prok_B
COG04975355-5656  RecN
COG11962231-2891  Smc
COG15116417-6939  YhgE
COG11965934-6714  Smc
pfam024634917-5683  SMC_N
TIGR021681627-2024  SMC_prok_B
COG04193407-3936  SbcC
COG04195068-5650  SbcC
TIGR021695478-5836  SMC_prok_A
TIGR045235359-5644  Mplasa_alph_rch
COG52815530-5800  COG5281
TIGR021695322-5657  SMC_prok_A
PRK047785522-5798  PRK04778
COG11963848-4164  Smc
PRK039185105-5653  PRK03918
pfam131665345-5680  AAA_13
COG11964101-4347  Smc
TIGR021682989-3668  SMC_prok_B
PRK022244761-5234  PRK02224
COG11966449-6756  Smc
PRK039185344-5801  PRK03918
TIGR006181485-2035  sbcc
COG04191219-1768  SbcC
TIGR021685136-5832  SMC_prok_B
PRK011562059-2670  PRK01156
COG11961871-2580  Smc
TIGR045235200-5645  Mplasa_alph_rch
COG43725309-5527  COG4372
COG04197650-8230  SbcC
COG11964067-4827  Smc
pfam135145401-5752  AAA_27
TIGR006064758-5683  rad50
PRK011561953-2252  PRK01156
COG04193748-4333  SbcC
TIGR021695940-6254  SMC_prok_A


Ontology Information


   
HPRD ID6341
Molecular ClassUnclassified
Molecular FunctionVoltage-gated ion channel activity (GO:0005244)
Biological ProcessTransport (GO:0006810)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO