| Tag | Content |
|---|---|
| Uniprot ID | Q6ZMZ3; A6H8H3; Q86SX5; Q8N7G8; |
| Entrez ID | 161176 |
| Genbank protein ID | BAD18582.1; CAD62365.1; BAC05312.1; AAI46605.1; |
| Genbank nucleotide ID | XM_005267377.3; NM_152592.4; XM_017021056.1; XM_006720063.3; |
| Ensembl protein ID | ENSP00000450562; ENSP00000334308; ENSP00000450774; |
| Ensembl nucleotide ID | ENSG00000176438 |
| Gene name | Nesprin-3 |
| Gene symbol | SYNE3 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26449438 |
| Functional description | 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. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells. |
| Sequence | MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR 60 VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL 120 ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL 180 FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV 240 EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG 300 ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ 360 PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI 420 QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP 480 QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK 540 SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD 600 LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL 660 RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP 720 EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI 780 NPMDPIPRHR RRANLLQEEE GSHEDFSQLL RNFGQWLQVE NSKLVRIIAM RTSTAEDLRT 840 RKSKLQELEA RVPEGQHLFE NLLRLGPARG TSDELEDLRY QWMLYKSKLK DSGHLLTQSS 900 PGEPTGFQKT RRWRGLGSLF RRACCVALPL QLLLLLFLLL LFLLPIREED RSCTLANNFA 960 RSFTLMLRYN GPPPT 975 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.