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26258 BLOC1S6

26258

BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition biogenesis of lysosomal organelles complex 1 subunit 6

研究结论

Date Results Publications
2018-07-23 13:16:00 Results from a study on gene expression variability markers in early-stage human embryos shows that BLOC1S6 (PLDN) is a putative expression variability marker for the 3-day, 8-cell embryo stage. 26288249
2018-02-03 10:48:00 PLDN is a direct target of RUNX1 and its dysregulation is a mechanism for platelet dense granule deficiency associated with RUNX1 haplodeficiency 28075530
2014-10-04 12:08:00 Mecp2 regulates the expression of components belonging to the dysbindin interactome 23750231
2010-01-21 00:00:00 no defects in the known components of pallidin-muted complex (BLOC-1)have been identified in 142 patients with HPS, suggesting that BLOC-1 function may be critical in humans. 12576321
2010-01-21 00:00:00 role in biogenesis of lysosome-related organelles 12191018

名称对应

Type IDs
Synonymous BLOS6, HPS9, PA, PALLID, PLDN
Gene
UniProtKB-ID: BL1S6_HUMAN, B3KY40_HUMAN, H3BST1_HUMAN
UniprotKB: Q9UL45, B3KY40, H3BST1
UniParc: UPI000004A0B2, UPI0000E59C24, UPI000015D56E, UPI00004088D4
EMBL: AF080470, BC004819, AK128626, AC090527, AK057545
Ensembl: ENSG00000104164
KO: hsa:26258
Nucleutide sequences
EMBL-CDS: AAF08343.1, AAH04819.1, BAG54702.1
Ensembl_TRS: ENST00000567523, ENST00000220531, ENST00000565323
Protein sequencees
Ensembl_PRO: ENSP00000220531, ENSP00000456624, ENSP00000456851
RefSeq: NP_001298184.1, NP_001298185.1, NP_036520.1
Others
UniRef100: UniRef100_Q9UL45, UniRef100_B3KY40, UniRef100_H3BST1
UniRef90: UniRef90_G1R1Q6, UniRef90_B3KY40, UniRef90_Q9UL45
UniRef50: UniRef50_H3BN13, UniRef50_F6ZSG2, UniRef50_Q9UL45
UniGene: Hs.7037
CCDS: CCDS10126.1

全选

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