1. Gene
  2. BLOC1S5 - biogenesis of lysosomal organelles complex 1 subunit 5 Gene

BLOC1S5 - biogenesis of lysosomal organelles complex 1 subunit 5 Gene

种属: Homo sapiens (human)

同用名: MU; BLOS5; HPS11; MUTED

基因 ID: 63915 | 基因类型: protein coding

关于 BLOC1S5

功能概要

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

BLOC1S5 基因产物(1)

mRNA Protein Name
NM_001199322.1 NP_001186251.1 biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12019270 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endosome to melanosome transport IDA
IDA: 通过直接分析推断
17182842 GOA
involved in melanosome transport IDA
IDA: 通过直接分析推断
17182842 GOA
involved in positive regulation of pigment cell differentiation IDA
IDA: 通过直接分析推断
17182842 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BLOC-1 complex IDA
IDA: 通过直接分析推断
15102850 GOA
part of BLOC-1 complex IPI
IPI: 通过物理相互作用推断
22203680 GOA
located in transport vesicle IDA
IDA: 通过直接分析推断
17182842 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

biogenesis of lysosome-related organelles complex 1 subunit 5

BLOC-1 subunit 5

biogenesis of lysosomal organelles complex-1, subunit 5, muted

muted homolog

protein Muted homolog

BLOC1S5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra BLOC1S5 Q8TDH9 ABI2 Homo sapiens Q9NYB9-2
Validated Y2H
32296183
Intra BLOC1S5 Q8TDH9 PKNOX1 Homo sapiens P55347
Y2H Prey Pooling
32296183
Intra BLOC1S5 Q8TDH9 PKNOX1 Homo sapiens P55347
Y2H Array
32296183
Intra BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Prey Pooling
25416956
Intra BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Validated Y2H
25416956
Intra BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Prey Pooling
32296183
Intra BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Validated Y2H
32296183
Intra BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Array
32296183
Intra BLOC1S5 Q8TDH9 PBX2 Homo sapiens P40425
Y2H Array
32296183
Intra BLOC1S5 Q8TDH9 PBX2 Homo sapiens P40425
Y2H Prey Pooling
32296183
Intra BLOC1S5 Q8TDH9 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra BLOC1S5 Q8TDH9 DTNBP1 Homo sapiens Q96EV8
Y2H
15102850
Intra BLOC1S5 Q8TDH9 BLOC1S2 Homo sapiens Q6QNY1
Anti Tag CoIP
33961781
Intra BLOC1S5 Q8TDH9 ABI3 Homo sapiens Q9P2A4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用