1. Gene
  2. Hps1 - HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 Gene

Hps1 - HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 Gene

种属: Mus musculus

同用名: ep; Hps; Gm21361; 6030422N11Rik

基因 ID: 192236 | 基因类型: protein coding

关于 Hps1

功能概要

Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in lipid homeostasis and protein secretion. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including cellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal Enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Hps1 基因产物(3)

mRNA Protein Name
NM_001346703.2 NP_001333632.1 BLOC-3 complex member HPS1 isoform 2
NM_001362410.1 NP_001349339.1 BLOC-3 complex member HPS1 isoform 3
NM_019424.3 NP_062297.1 BLOC-3 complex member HPS1 isoform 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within blood coagulation IMP
IMP: 通过突变表型推断
6696991 MGI
acts upstream of or within cell morphogenesis IGI
IGI: 通过遗传相互作用推断
12777251 MGI
acts upstream of or within eye pigmentation IMP
IMP: 通过突变表型推断
21052544 MGI
acts upstream of or within negative effect gene expression IMP
IMP: 通过突变表型推断
31272455 MGI
acts upstream of or within inflammatory response IGI
IGI: 通过遗传相互作用推断
12777251 MGI
acts upstream of or within intracellular zinc ion homeostasis IMP
IMP: 通过突变表型推断
30786955 MGI
acts upstream of or within lipid homeostasis IMP
IMP: 通过突变表型推断
30710063 MGI
acts upstream of or within lipid metabolic process IMP
IMP: 通过突变表型推断
30710063 MGI
acts upstream of or within lung development IGI
IGI: 通过遗传相互作用推断
12777251 MGI
acts upstream of or within lung morphogenesis IGI
IGI: 通过遗传相互作用推断
12777251 MGI
acts upstream of or within lysosome organization IMP
IMP: 通过突变表型推断
30786955 MGI
acts upstream of or within melanocyte differentiation IMP
IMP: 通过突变表型推断
11836498 MGI
acts upstream of or within organelle organization IMP
IMP: 通过突变表型推断
11836498 MGI
acts upstream of or within pigmentation IMP
IMP: 通过突变表型推断
2379821 MGI
acts upstream of or within positive regulation of natural killer cell activation IMP
IMP: 通过突变表型推断
7089489 MGI
acts upstream of or within protein secretion IMP
IMP: 通过突变表型推断
29074498 MGI
acts upstream of or within respiratory system process IGI
IGI: 通过遗传相互作用推断
12777251 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: 通过突变表型推断
21052544 MGI
acts upstream of or within secretion of lysosomal enzymes IMP
IMP: 通过突变表型推断
7089489 MGI
acts upstream of or within single fertilization IMP
IMP: 通过突变表型推断
30786955 MGI
acts upstream of or within spermatogenesis IMP
IMP: 通过突变表型推断
30786955 MGI
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

BLOC-3 complex member HPS1

Hermansky-Pudlak syndrome 1 protein homolog

Hermansky-Pudlak syndrome 1 homolog

Hermansky-Pudlak syndrome protein homolog

hermansky-Pudlak syndrome 1 protein homolog

pale ear

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Hps1 NCBI NCBI:3257
Macaca fascicularis Hps1 NCBI NCBI:102135630
Rattus norvegicus Hps1 NCBI NCBI:114638