| Type | Description |
|---|---|
| Definition | VPS11 core subunit of CORVET and HOPS complexes |
| Date | Results | Publications |
|---|---|---|
| 2019-06-15 11:02:00 | Study characterized the ubiquitinomes of Vps11/18 and demonstrated that these two factors are involved in the regulation of signal transduction by protein ubiquitination. VPS11/18 regulate several signaling factors and pathways, including Wnt, estrogen receptor alpha (ERalpha), and NFkappaB. | 31015428 |
| 2017-12-09 14:05:00 | Underlining the presumed pathogenic potential of VPS11 defects. | 27473128 |
| 2016-08-27 10:09:00 | our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway | 27120463 |
| 2016-08-06 11:29:00 | In Ashkenazi-Jewish patients, syndrome with hypomyelination, developmental delay, increasing appendicular spasticity, truncal hypotonia and acquired microcephaly is associated with VPS11 missense mutation, p.Cys846Gly. | 26307567 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | END1, HLD12, PEP5, RNF108, hVPS11 |
| Gene |
UniProtKB-ID:
VPS11_HUMAN,
A0A087WXL6_HUMAN,
B7Z879_HUMAN
UniprotKB:
Q9H270,
A0A087WXL6,
B7Z879
UniParc:
UPI00019151D0,
UPI0000161C99,
UPI000003E7E9
EMBL:
CH471065,
BC012051,
AF258558,
AP003392,
AK302973,
AK026012,
BC065563,
AB027508,
AF308800,
KF511489
Ensembl:
ENSG00000160695,
ENSG00000280616
KO:
hsa:55823
|
| Nucleutide sequences |
EMBL-CDS:
AAH12051.2,
BAA95163.2,
BAB15320.1,
AAG34677.1,
AAH65563.1,
AAG23761.1,
EAW67444.1,
BAH13865.1
Gene_ORFName:
PP3476,
hCG_39399
Ensembl_TRS:
ENST00000620429,
ENST00000626621,
ENST00000621676,
ENST00000629865,
ENST00000614944
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000479680,
ENSP00000485929,
ENSP00000481126,
ENSP00000481807,
ENSP00000486795
RefSeq:
NP_068375.3,
NP_001365149.1,
NP_001277114.1,
XP_024304375.1,
NP_001365150.1,
NP_001365147.1,
NP_001365148.1
|
| Others |
UniRef100:
UniRef100_Q9H270,
UniRef100_B7Z879,
UniRef100_A0A087WXL6
UniRef90:
UniRef90_Q9H270,
UniRef90_G1R733
UniRef50:
UniRef50_Q9H270,
UniRef50_A0A3Q2U7C4
UniGene:
Hs.234282
CCDS:
CCDS73404.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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