| Type | Description |
|---|---|
| Definition | spectrin repeat containing nuclear envelope protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:12:00 | Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle. | 31578382 |
| 2020-05-02 12:20:00 | Three novel mutations are described in SYNE1-ataxia patients. | 30573412 |
| 2020-01-18 11:16:00 | SYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome | 31049853 |
| 2019-12-21 10:28:00 | Our explorative analyses of the biological impact of rs9371601 suggested that this SNP was significantly associated with the methylation of a CpG site (cg01844274, p = 5.0510(- 6)) within SYNE1 in human dorsal lateral prefrontal cortex (DLPFC) tissues. CONCLUSIONS: Our data confirms the association between rs9371601 and BPD | 31236099 |
| 2018-09-08 10:44:00 | The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment. | 28455503 |
| Type | IDs |
|---|---|
| Synonymous | 8B, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2 |
| Gene |
UniProtKB-ID:
SYNE1_HUMAN,
F8WAI0_HUMAN,
B4E3R1_HUMAN,
B7Z9Y6_HUMAN,
A0A0C4DG40_HUMAN
UniprotKB:
Q8NF91,
F8WAI0,
B4E3R1,
B7Z9Y6,
A0A0C4DG40
UniParc:
UPI000018DB94,
UPI00019153E9,
UPI000292A27E,
UPI0000591B29,
UPI0000110103,
UPI000292A277,
UPI000204A785,
UPI000018DB9B,
UPI000292A271,
UPI000204AF58,
UPI0001B04BB7,
UPI000013C4D2,
UPI0001EE8D65,
UPI0005A5D02A,
UPI000013F5C4,
UPI00017A890D
EMBL:
AL138832,
AF535142,
AK304825,
AB018339,
AY135172,
AL136079,
AK094094,
AY184203,
AB033088,
KF458330,
AL713682,
AY061756,
AY061755,
AK316101,
AB051543,
AY183142,
BC039121,
AY184206,
AL589963,
AF444779,
AK056122,
AL357081,
AF043290,
AL078582,
FM162565,
AL450401,
AL591507,
AF495910,
AL049548
Ensembl:
ENSG00000131018
KO:
hsa:23345
|
| Nucleutide sequences |
EMBL-CDS:
AAO23669.1,
CAD28486.2,
AAN60442.1,
BAA34516.2,
AAL33799.1,
BAA86576.1,
AAM95335.1,
AAO27771.1,
AAO27774.1,
AAN03486.1,
BAB21847.1,
AAH39121.1,
AAC02992.2,
AAL38031.1,
AAL33798.1,
CAQ57272.1,
BAC04284.1,
BAB71097.1,
BAG65573.1,
BAH14472.1
Ensembl_TRS:
ENST00000367255,
ENST00000413186,
ENST00000367253,
ENST00000354674,
ENST00000423061
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000414510,
ENSP00000356224,
ENSP00000356222,
ENSP00000346701,
ENSP00000396024
RefSeq:
XP_016866098.1,
XP_006715479.1,
XP_016866100.1,
XP_006715487.1,
XP_006715473.1,
XP_006715478.1,
XP_006715471.1,
XP_006715474.1,
XP_016866107.1,
XP_006715475.1,
XP_006715486.1,
XP_011533944.1,
XP_006715483.1,
XP_006715488.1,
NP_001334630.1,
XP_016866102.1,
XP_016866108.1,
XP_006715476.1,
XP_011533943.1,
XP_006715470.1,
XP_011533946.1,
XP_016866101.1,
XP_016866106.1,
NP_001334631.1,
XP_006715480.1,
XP_006715485.1,
XP_016866103.1,
XP_016866099.1,
XP_016866104.1,
XP_016866097.1,
XP_016866105.1,
XP_011533947.1,
XP_006715472.1,
XP_006715477.1,
NP_149062.2,
NP_892006.3,
XP_011533945.1,
XP_006715484.1
|
| Others |
UniRef100:
UniRef100_B7Z9Y6,
UniRef100_Q8NF91,
UniRef100_B4E3R1,
UniRef100_F8WAI0,
UniRef100_A0A0C4DG40
UniRef90:
UniRef90_Q8NF91,
UniRef90_Q8NF91-9,
UniRef90_Q8NF91-4,
UniRef90_B4E3R1
UniRef50:
UniRef50_Q8NF91-9,
UniRef50_Q8WXH0-13,
UniRef50_Q8NF91
UniGene:
Hs.12967
CCDS:
CCDS5235.1,
CCDS5236.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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