| Type | Description |
|---|---|
| Definition | leucine rich repeat LGI family member 4 |
| Date | Results | Publications |
|---|---|---|
| 2017-06-10 10:12:00 | in four unrelated multiplex families presenting with severe arthrogryposis multiplex congenital, identified biallelic loss-of-function mutations in LGI4; functional tests showed these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein | 28318499 |
| 2015-06-20 11:48:00 | Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. | 24662834 |
| 2010-10-23 10:44:00 | The positive genotypic association between benign familial infantile convulsions (BFIC)and c.1722G/A polymorphism suggests that LGI4 might contribute to the susceptibility to BFIC. | 19815358 |
| 2010-04-12 12:17:00 | Schwann cells are the principal cellular source of Lgi4 in the developing nerve; transgenic Lgi4 binds directly to Adam22 without a requirement for additional membrane associated factors. | 20220021 |
| 2010-01-21 00:00:00 | Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms. | 14505228 |
| Type | IDs |
|---|---|
| Synonymous | AMCNMY, LGIL3 |
| Gene |
UniProtKB-ID:
LGI4_HUMAN,
A5D6Y5_HUMAN
UniprotKB:
Q8N135,
A5D6Y5
UniParc:
UPI000004C5DE,
UPI0000051E39,
UPI000150D4F2
EMBL:
AJ487519,
AY358121,
BC136694,
AF467954,
BC136697,
AJ487959,
BC140008,
BC087848
Ensembl:
ENSG00000153902
KO:
hsa:163175
|
| Nucleutide sequences |
EMBL-CDS:
AAM49552.1,
AAQ88488.1,
AAI36695.1,
AAH87848.1,
AAI36698.1,
CAD32306.1,
CAD31787.1,
AAI40009.1
Gene_ORFName:
UNQ6515/PRO21485
Ensembl_TRS:
ENST00000591633,
ENST00000310123
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000467784,
ENSP00000312273
RefSeq:
XP_011524897.1,
NP_644813.1,
XP_016881917.1,
XP_016881919.1,
XP_016881918.1
|
| Others |
UniRef100:
UniRef100_Q8N135,
UniRef100_A5D6Y5
UniRef90:
UniRef90_Q8N135,
UniRef90_A5D6Y5
UniRef50:
UniRef50_A5D6Y5,
UniRef50_Q8N135
UniGene:
Hs.65256
CCDS:
CCDS12444.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员