| Type | Description |
|---|---|
| Definition | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-18 11:13:00 | HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. | 27593200 |
| 2015-07-20 14:48:00 | BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. | 23084991 |
| 2012-01-14 11:59:00 | Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. | 21833017 |
| 2011-09-03 10:19:00 | a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA | 20662851 |
| 2010-10-04 12:24:00 | Three different mutations in the HPS1 gene were found in the two families. | 20514622 |
| Type | IDs |
|---|---|
| Synonymous | BLOC3S1, HPS |
| Gene |
UniProtKB-ID:
HPS1_HUMAN,
A0A0S2Z3U1_HUMAN,
Q658M9_HUMAN,
A0A0S2Z3U9_HUMAN
UniprotKB:
Q92902,
A0A0S2Z3U1,
Q658M9,
A0A0S2Z3U9
UniParc:
UPI000002AB52,
UPI00003741A3,
UPI000006D5B0,
UPI000052A44A,
UPI000052A44B,
UPI0007210BD2
EMBL:
U79128,
U79123,
U79125,
AL139243,
U79126,
U79134,
KU178114,
U79133,
U79132,
AL833734,
BC000175,
U79136,
U79135,
U79124,
U79127,
U79130,
KU178116,
U65676,
U79131,
U79129,
AF450133,
CH471066,
U96721
Ensembl:
ENSG00000107521
KO:
hsa:3257
|
| Nucleutide sequences |
EMBL-CDS:
AAH00175.1,
EAW49882.1,
AAL50684.1,
AAC52074.1,
AAB70662.1,
AAB17869.1,
ALQ33574.1,
CAH56230.1,
ALQ33572.1
Ensembl_TRS:
ENST00000613394,
ENST00000338546,
ENST00000325103,
ENST00000361490
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000343638,
ENSP00000477926,
ENSP00000355310,
ENSP00000326649
RefSeq:
XP_016871662.1,
NP_001309410.1,
NP_001309416.1,
NP_001309418.1,
XP_024303740.1,
NP_001309413.1,
XP_005269814.1,
NP_001309407.1,
NP_001298274.1,
NP_001309405.1,
NP_001309414.1,
NP_001309421.1,
NP_001309420.1,
NP_001309409.1,
XP_024303739.1,
NP_001309411.1,
NP_001309412.1,
NP_001309419.1,
XP_016871661.1,
XP_016871659.1,
NP_001309406.1,
NP_001309408.1,
XP_016871660.1,
NP_000186.2,
NP_872577.1
|
| Others |
UniRef100:
UniRef100_Q658M9,
UniRef100_Q92902-3,
UniRef100_Q92902,
UniRef100_A0A0S2Z3U1
UniRef90:
UniRef90_Q92902-3,
UniRef90_Q92902,
UniRef90_Q658M9
UniRef50:
UniRef50_Q658M9,
UniRef50_Q92902-3,
UniRef50_Q92902
UniGene:
Hs.404568
CCDS:
CCDS7476.1,
CCDS7475.1
|
| {{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