| Type | Description |
|---|---|
| Definition | junctophilin 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-14 11:57:00 | Charcot Marie Tooth 2K patients with early and late onset were analyzed for association of rs139723190 SNP in JPH1 gene responsible for CMT type severe and mild phenotypes. | 30804591 |
| 2015-08-29 10:21:00 | Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations. | 25168384 |
| 2015-05-16 11:43:00 | This study suggests that genetic variants of JPH1 may modulate the effect of smoking on carotid plaque burden. | 24954085 |
| 2013-08-03 10:30:00 | This study demonstrates that both JP1 and JP2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period | 23148318 |
| 2012-02-25 11:15:00 | JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery | 22020936 |
| Type | IDs |
|---|---|
| Synonymous | CMT2K, JP-1, JP1 |
| Gene |
UniProtKB-ID:
JPH1_HUMAN,
Q86VR1_HUMAN,
Q7Z682_HUMAN
UniprotKB:
Q9HDC5,
Q86VR1,
Q7Z682
UniParc:
UPI000017DF7F,
UPI00001A9CD1,
UPI000012DAC0
EMBL:
BC049372,
AB042635,
BC140875,
BC140876,
BX537756,
AF110324,
CH471068
Ensembl:
ENSG00000104369
KO:
hsa:56704
|
| Nucleutide sequences |
EMBL-CDS:
EAW87029.1,
BAB11986.1,
AAI40877.1,
AAI40876.1,
AAH49372.1,
CAD97825.1
Ensembl_TRS:
ENST00000342232
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000344488
RefSeq:
NP_001349979.1,
NP_001349980.1,
NP_065698.1,
NP_001304759.1
|
| Others |
UniRef100:
UniRef100_Q86VR1,
UniRef100_Q9HDC5
UniRef90:
UniRef90_Q9HDC5,
UniRef90_A0A2R9AM53
UniRef50:
UniRef50_Q9HDC5
UniGene:
Hs.657367
CCDS:
CCDS6217.1
|
| {{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