| Type | Description |
|---|---|
| Definition | CLN8 transmembrane ER and ERGIC protein |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:52:00 | The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. | 30919163 |
| 2020-07-13 07:32:00 | CLN8 associates with CLN6 to form the EGRESS complex (ER-to-Golgi Relaying of Enzymes of the lySosomal System), the functional unit responsible for the recruitment of newly synthesized lysosomal enzymes in the endoplasmic reticulum and their transfer to the Golgi complex. | 32597833 |
| 2019-09-21 12:18:00 | the phosphorylation levels of several substrates of PP2A, namely Akt, S6 kinase, and GSK3beta, were decreased in CLN8 disease patient fibroblasts. | 30453012 |
| 2018-11-08 15:21:00 | CLN8 recruits lysosomal soluble proteins in the endoplasmic reticulum (ER), delivers them to the Golgi apparatus via COPII-coated vesicles, and recycles back to the ER via COPI-coated vesicles. CLN8 interacts with the lysosomal soluble proteins through its large luminal loop. The export signal of CLN8 (261VDWNF265) is localized in its cytosolic C-terminus. CLN8 deficiency results in depletion of enzymes at the lysosome. | 30397314 |
| 2017-03-18 12:37:00 | Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro in 5 relatives from a large Turkish consanguineous family | 27844444 |
| Type | IDs |
|---|---|
| Synonymous | C8orf61, EPMR |
| Gene |
UniProtKB-ID:
CLN8_HUMAN,
A0A024QZ57_HUMAN
UniprotKB:
Q9UBY8,
A0A024QZ57
UniParc:
UPI0000169EAA
EMBL:
AF123759,
AF123758,
CH471181,
AF123760,
AF123761,
BC007725,
AF123757,
BT007049
Ensembl:
ENSG00000182372,
ENSG00000278220
KO:
hsa:2055
|
| Nucleutide sequences |
EMBL-CDS:
AAH07725.1,
AAF13115.1,
AAP35698.1,
AAF13119.1,
AAF13118.1,
AAF13116.1,
AAF13117.1,
EAW51479.1,
EAW51478.1,
EAW51477.1
Gene_ORFName:
hCG_15110
Ensembl_TRS:
ENST00000619400,
ENST00000331222,
ENST00000637156,
ENST00000519254,
ENST00000635751,
ENST00000635970,
ENST00000637083
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000490235,
ENSP00000490016,
ENSP00000489694,
ENSP00000482713,
ENSP00000490458,
ENSP00000328182,
ENSP00000490439
RefSeq:
XP_011533048.1,
XP_011533049.1,
XP_005266078.1,
NP_061764.2,
XP_011533047.1,
XP_005266080.1,
XP_005266079.1
|
| Others |
UniRef100:
UniRef100_Q9UBY8
UniRef90:
UniRef90_Q9UBY8
UniRef50:
UniRef50_Q9UBY8
UniGene:
Hs.127675
CCDS:
CCDS5956.1
|
| {{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