| Type | Description |
|---|---|
| Definition | desmoplakin |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:01:00 | Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg. | 32062131 |
| 2021-01-16 15:55:00 | Impact of the DSP-H1684R Genetic Variant on Ion Channels Activity in iPSC-Derived Cardiomyocytes. | 32706220 |
| 2020-10-03 12:53:00 | Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy. | 32046637 |
| 2020-08-01 14:05:00 | Study in six arrhythmogenic cardiomyopathy pedigrees with 38 carriers with mutations affecting both major DSP isoforms (DSPI and II) revealed that all carriers were observed to have curly or wavy hair in the pedigrees examined, except for members of Family 6, where the position of the mutation only affected the cardiac-specific isoform DSPI . A mild palmoplantar keratoderma was also present in many carriers. | 30382575 |
| 2020-05-09 12:51:00 | The study identified desmoplakin as a novel potential telomere binding protein and highlighted its role in protecting against telomere DNA damage and resultant cell apoptosis. | 31595153 |
| Type | IDs |
|---|---|
| Synonymous | DCWHKTA, DP |
| Gene |
UniProtKB-ID:
DESP_HUMAN,
B4DKX6_HUMAN,
Q4LE79_HUMAN
UniprotKB:
P15924,
B4DKX6,
Q4LE79
UniParc:
UPI0001D99E94,
UPI00004C9B0E,
UPI000013C67F,
UPI00017A7597,
UPI000054C90B
EMBL:
AL031058,
BC140802,
M77830,
J05211,
AB209992,
AK296756,
HM151899,
AF139065
Ensembl:
ENSG00000096696
KO:
hsa:1832
|
| Nucleutide sequences |
EMBL-CDS:
AAF19785.1,
ADI58529.1,
AAI40803.1,
AAA85135.1,
AAA35766.1,
BAG59338.1,
BAE06074.1
Ensembl_TRS:
ENST00000379802,
ENST00000418664
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000396591,
ENSP00000369129
RefSeq:
NP_001008844.1,
NP_001305963.1,
NP_004406.2
|
| Others |
UniRef100:
UniRef100_P15924,
UniRef100_P15924-2
UniRef90:
UniRef90_P15924,
UniRef90_P15924-2
UniRef50:
UniRef50_P15924,
UniRef50_P15924-2
UniGene:
Hs.519873
CCDS:
CCDS47368.1,
CCDS4501.1
|
| {{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