SYNE1_HUMAN
Evidence for PS localization
Functions
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. [View more on UniProt]
Protein features
Binary interactions with known binding regions
To display all evidence describing the interaction with a partner, click on the protein name left to the bars.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 8095 | Arg | His | Emery-Dreifussmusculardystrophy4,autosomaldominant(EDMD4) | - |
| 8461 | Glu | Lys | Emery-Dreifussmusculardystrophy4,autosomaldominant(EDMD4) | - |
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in SYNE1_HUMAN |
|---|---|---|---|---|
| GO:0046872 | metal ion binding | 23.3333 | 4 | no |
| GO:0003723 | RNA binding | 16.6667 | 4 | yes |
| GO:0003779 | actin binding | 16.6667 | 4 | yes |
| GO:0042803 | protein homodimerization activity | 6.6667 | 4 | yes |
| GO:0140444 | cytoskeleton-nuclear membrane anchor activity | 6.6667 | 4 | yes |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in SYNE1_HUMAN |
|---|---|---|---|---|
| GO:0048522 | positive regulation of cellular process | 73.3333 | 4 | no |
| GO:0051128 | regulation of cellular component organization | 56.6667 | 4 | no |
| GO:0006996 | organelle organization | 53.3333 | 4 | yes |
| GO:0008104 | protein localization | 50.0000 | 4 | no |
| GO:0010646 | regulation of cell communication | 50.0000 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 50.0000 | 4 | no |
| GO:0009966 | regulation of signal transduction | 46.6667 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 46.6667 | 4 | no |
| GO:0051171 | regulation of nitrogen compound metabolic process | 46.6667 | 4 | no |
| GO:0080090 | regulation of primary metabolic process | 46.6667 | 4 | no |
| GO:0009893 | positive regulation of metabolic process | 43.3333 | 4 | no |
| GO:0010604 | positive regulation of macromolecule metabolic process | 40.0000 | 5 | no |
| GO:0031325 | positive regulation of cellular metabolic process | 36.6667 | 5 | no |
| GO:0048523 | negative regulation of cellular process | 36.6667 | 4 | no |
| GO:0051173 | positive regulation of nitrogen compound metabolic process | 36.6667 | 5 | no |
| GO:0051246 | regulation of protein metabolic process | 36.6667 | 5 | no |
| GO:0031344 | regulation of cell projection organization | 36.6667 | 5 | no |
| GO:0007010 | cytoskeleton organization | 33.3333 | 5 | no |
| GO:0120035 | regulation of plasma membrane bounded cell projection organization | 33.3333 | 6 | no |
| GO:0010647 | positive regulation of cell communication | 33.3333 | 5 | no |
| GO:0022603 | regulation of anatomical structure morphogenesis | 33.3333 | 4 | no |
| GO:0022607 | cellular component assembly | 33.3333 | 4 | no |
| GO:0023056 | positive regulation of signaling | 33.3333 | 4 | no |
| GO:0051049 | regulation of transport | 33.3333 | 4 | no |
| GO:0031399 | regulation of protein modification process | 30.0000 | 6 | no |
| GO:0051247 | positive regulation of protein metabolic process | 30.0000 | 6 | no |
| GO:0051094 | positive regulation of developmental process | 30.0000 | 4 | no |
| GO:0051130 | positive regulation of cellular component organization | 30.0000 | 5 | no |
| GO:0030030 | cell projection organization | 30.0000 | 4 | no |
| GO:0048584 | positive regulation of response to stimulus | 30.0000 | 4 | no |
| GO:0019220 | regulation of phosphate metabolic process | 30.0000 | 6 | no |
| GO:0042325 | regulation of phosphorylation | 30.0000 | 7 | no |
| GO:0051174 | regulation of phosphorus metabolic process | 30.0000 | 5 | no |
| GO:0050804 | modulation of chemical synaptic transmission | 26.6667 | 5 | no |
| GO:0099177 | regulation of trans-synaptic signaling | 26.6667 | 4 | no |
| GO:0010941 | regulation of cell death | 26.6667 | 4 | no |
| GO:0032880 | regulation of protein localization | 26.6667 | 5 | no |
| GO:0060341 | regulation of cellular localization | 26.6667 | 4 | no |
| GO:0043085 | positive regulation of catalytic activity | 26.6667 | 4 | no |
| GO:0120036 | plasma membrane bounded cell projection organization | 26.6667 | 5 | no |
| GO:0001932 | regulation of protein phosphorylation | 26.6667 | 7 | no |
| GO:0072657 | protein localization to membrane | 23.3333 | 4 | no |
| GO:0031401 | positive regulation of protein modification process | 23.3333 | 7 | no |
| GO:0033043 | regulation of organelle organization | 23.3333 | 5 | no |
| GO:0042981 | regulation of apoptotic process | 23.3333 | 6 | no |
| GO:0043067 | regulation of programmed cell death | 23.3333 | 5 | no |
| GO:0061024 | membrane organization | 23.3333 | 4 | no |
| GO:0031346 | positive regulation of cell projection organization | 23.3333 | 6 | no |
| GO:0034330 | cell junction organization | 23.3333 | 4 | no |
| GO:0050807 | regulation of synapse organization | 23.3333 | 5 | no |
| GO:0009967 | positive regulation of signal transduction | 23.3333 | 5 | no |
| GO:0010975 | regulation of neuron projection development | 23.3333 | 7 | no |
| GO:0045595 | regulation of cell differentiation | 23.3333 | 4 | no |
| GO:0009892 | negative regulation of metabolic process | 23.3333 | 4 | no |
| GO:0010562 | positive regulation of phosphorus metabolic process | 23.3333 | 6 | no |
| GO:0010605 | negative regulation of macromolecule metabolic process | 23.3333 | 5 | no |
| GO:0042327 | positive regulation of phosphorylation | 23.3333 | 8 | no |
| GO:0043549 | regulation of kinase activity | 23.3333 | 5 | no |
| GO:0045937 | positive regulation of phosphate metabolic process | 23.3333 | 7 | no |
| GO:0051172 | negative regulation of nitrogen compound metabolic process | 23.3333 | 5 | no |
| GO:0051338 | regulation of transferase activity | 23.3333 | 4 | no |
| GO:0007030 | Golgi organization | 13.3333 | 5 | yes |
| GO:0006997 | nucleus organization | 6.6667 | 5 | yes |
| GO:0042692 | muscle cell differentiation | 6.6667 | 4 | yes |
| GO:0043578 | nuclear matrix organization | 6.6667 | 6 | yes |
| GO:0048232 | male gamete generation | 6.6667 | 4 | yes |
| GO:0051457 | maintenance of protein location in nucleus | 6.6667 | 5 | yes |
| GO:0072595 | maintenance of protein localization in organelle | 6.6667 | 4 | yes |
| GO:0090292 | nuclear matrix anchoring at nuclear membrane | 6.6667 | 6 | yes |
Disease
| Term | Name | % | Distance from top the of the tree | Annotated in SYNE1_HUMAN |
|---|---|---|---|---|
| DOID:0080000 | muscular disease | 13.3333 | 3 | yes |
| DOID:423 | myopathy | 13.3333 | 5 | yes |
| DOID:66 | muscle tissue disease | 13.3333 | 4 | yes |
| DOID:9884 | muscular dystrophy | 13.3333 | 6 | yes |
| DOID:11726 | Emery-Dreifuss muscular dystrophy | 10.0000 | 7 | yes |
| DOID:0070249 | autosomal dominant Emery-Dreifuss muscular dystrophy 4 | 6.6667 | 8 | yes |
| DOID:0050700 | cardiomyopathy | 6.6667 | 4 | no |
| DOID:0060036 | intrinsic cardiomyopathy | 6.6667 | 5 | no |
| DOID:114 | heart disease | 6.6667 | 3 | no |
| DOID:12930 | dilated cardiomyopathy | 6.6667 | 6 | no |
| DOID:440 | neuromuscular disease | 6.6667 | 5 | no |
| DOID:574 | peripheral nervous system disease | 6.6667 | 3 | no |
| DOID:870 | neuropathy | 6.6667 | 4 | no |
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| SYNE1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| MUSK_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| UBP21_HUMAN | [view interactions] | Low throughput | no | no |
| LMNA_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| CROCC_HUMAN | [view interactions] | Low throughput | no | no |
| EMD_HUMAN | [view interactions] | Low throughput | no | yes |
| FHOD1_HUMAN | [view interactions] | Low throughput | no | no |
| DISC1_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| AT1B4_HUMAN | [view interactions] | Low throughput | no | no |
| SUN3_HUMAN | [view interactions] | Low throughput | no | no |
| SPAG4_HUMAN | [view interactions] | Low throughput | no | no |
| SUN1_HUMAN | [view interactions] | Low throughput | no | yes |
| SUN2_HUMAN | [view interactions] | Low throughput | no | yes |
| MYC_HUMAN | [view interactions] | High throughput | no | yes |
| ESR1_HUMAN | [view interactions] | High throughput | no | no |
| MYOM1_HUMAN | [view interactions] | High throughput | no | no |
| PRPK_HUMAN | [view interactions] | High throughput | no | yes |
| NDEL1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EXOC1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| 3BP5_HUMAN | [view interactions] | High throughput | no | yes |
| CDC5L_HUMAN | [view interactions] | High throughput | no | yes |
| EPHA1_HUMAN | [view interactions] | High throughput | no | yes |
| RON_HUMAN | [view interactions] | High throughput | no | yes |
| DTBP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CEP63_HUMAN | [view interactions] | High throughput | no | yes |
| ECM29_HUMAN | [view interactions] | High throughput | no | no |
| TERF2_HUMAN | [view interactions] | High throughput | no | yes |
| OBSL1_HUMAN | [view interactions] | High throughput | no | yes |
| EZH2_HUMAN | [view interactions] | High throughput | no | no |
| SUZ12_HUMAN | [view interactions] | High throughput | no | no |
| RING2_HUMAN | [view interactions] | High throughput | no | yes |
| IFT57_HUMAN | [view interactions] | High throughput | no | yes |
| NTRK1_HUMAN | [view interactions] | High throughput | no | yes |
| IF16_HUMAN | [view interactions] | High throughput | no | no |
| TRI29_HUMAN | [view interactions] | High throughput | no | no |
| PPME1_HUMAN | [view interactions] | High throughput | no | yes |
| GAN_HUMAN | [view interactions] | High throughput | no | yes |
| MCM2_HUMAN | [view interactions] | High throughput | no | no |
| SHAN3_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| AGAP2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| HEY1_HUMAN | [view interactions] | High throughput | no | yes |
| AGR2_HUMAN | [view interactions] | High throughput | no | no |
| VIR_HUMAN | [view interactions] | High throughput | no | yes |
| AGRIN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ZBT7B_HUMAN | [view interactions] | High throughput | no | no |
| BIRC3_HUMAN | [view interactions] | High throughput | no | no |
| STAU1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CTRO_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ANLN_HUMAN | [view interactions] | High throughput | no | yes |
| KI20A_HUMAN | [view interactions] | High throughput | no | yes |
| PRC1_HUMAN | [view interactions] | High throughput | no | yes |
| RBM39_HUMAN | [view interactions] | High throughput | no | yes |
| DDX58_HUMAN | [view interactions] | High throughput | no | yes |
| NUDC2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| S10A2_HUMAN | [view interactions] | High throughput | no | no |
| TNF18_HUMAN | [view interactions] | High throughput | no | no |
| MMP19_HUMAN | [view interactions] | High throughput | no | no |
| THB_HUMAN | [view interactions] | High throughput | no | no |
| DVL2_HUMAN | [view interactions] | High throughput | no | yes |
| LYRIC_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| NEUL_HUMAN | [view interactions] | High throughput | no | yes |
| LMAN2_HUMAN | [view interactions] | High throughput | no | yes |
| OPHN1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DMD_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| NU107_HUMAN | [view interactions] | High throughput | no | no |
| NUP35_HUMAN | [view interactions] | High throughput | no | yes |
| MTCH2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MIRO2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DNJC1_HUMAN | [view interactions] | High throughput | no | yes |
| DJC25_HUMAN | [view interactions] | High throughput | no | yes |
| CXD3_HUMAN | [view interactions] | High throughput | no | no |
| DHB11_HUMAN | [view interactions] | High throughput | no | yes |
| LNP_HUMAN | [view interactions] | High throughput | no | yes |
| LRC59_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MET7A_HUMAN | [view interactions] | High throughput | no | no |
| RPN2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SC61B_HUMAN | [view interactions] | High throughput | no | yes |
| SEC62_HUMAN | [view interactions] | High throughput | no | yes |
| SSRA_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| STIM1_HUMAN | [view interactions] | High throughput | no | yes |
| STX4_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| AGO1_HUMAN | [view interactions] | High throughput | no | no |
| AGO2_HUMAN | [view interactions] | High throughput | no | yes |
| KSR1_HUMAN | [view interactions] | High throughput | no | yes |
| HMGN2_HUMAN | [view interactions] | High throughput | no | no |
| AXDN1_HUMAN | [view interactions] | High throughput | no | no |
| H15_HUMAN | [view interactions] | High throughput | no | no |
| DDX23_HUMAN | [view interactions] | High throughput | no | yes |
| SRCN1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PPE1_HUMAN | [view interactions] | High throughput | no | no |
| TNIK_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DLG4_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DLGP1_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| BMI1_HUMAN | [view interactions] | High throughput | no | yes |
| RYBP_HUMAN | [view interactions] | High throughput | no | no |
| G3BP1_HUMAN | [view interactions] | High throughput | no | yes |
| APC_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| CDC42_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| BKRB2_HUMAN | [view interactions] | High throughput | no | yes |
| NDE1_HUMAN | [view interactions] | High throughput | no | yes |
| KASH5_HUMAN | [view interactions] | Computational | no | yes |
| MKS3_HUMAN | [view interactions] | Computational | no | no |
| SYNE3_HUMAN | [view interactions] | Computational | no | no |
| KIF3B_HUMAN | [view interactions] | Computational | no | no |
| SYNE4_HUMAN | [view interactions] | Computational | no | yes |
| LMNB1_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
| SYNE2_HUMAN | [view interactions] | Computational | no | no |