2. Gene
  3. HPS3 - HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Gene

HPS3 - HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：HPS3 溶酶体细胞器复合物 2 亚基 1 的生物发生

种属: Homo sapiens

同用名: SUTAL; BLOC2S1

基因 ID: 84343 | 基因类型: protein coding

关于 HPS3

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:149,129,638-149,173,732 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Broad expression in liver (RPKM 82.9), lymph node (RPKM 10.8) and 18 other tissues.

功能概要

该基因编码的蛋白质含有潜在的网格蛋白结合基序、共有双亮氨酸信号和基于酪氨酸的分选信号，用于靶向溶酶体谱系的囊泡。编码的蛋白质可能在与黑素体、血小板致密颗粒和溶酶体相关的细胞器生物发生中发挥作用。该基因的突变与 3 型 Hermansky-Pudlak 综合征有关。[RefSeq 提供，2015 年 4 月]

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

HPS3 基因产物(2)

mRNA Protein Name
NM_001308258.2 NP_001295187.1 BLOC-2 complex member HPS3 isoform 2
NM_032383.5 NP_115759.2 BLOC-2 complex member HPS3 isoform 1
基因本体论
  • 分子功能
  • 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
25189619 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BLOC-2 complex IPI
IPI: 通过物理相互作用推断
15030569 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

HPS3 蛋白结构

HPS3_N

HPS3_N: Hermansky-Pudlak syndrome 3 (3 - 212)

HPS3_Mid

HPS3_Mid: Hermansky-Pudlak syndrome 3, middle region (254 - 641)

HPS3_C

HPS3_C: Hermansky-Pudlak syndrome 3, C-terminal (651 - 1003)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1004 a.a.
蛋白主名 其他名称

BLOC-2 complex member HPS3

Hermansky-Pudlak syndrome 3 protein

HPS3 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
种属间
HPS3 Q969F9 sifA Salmonella typhimurium A0A0H3NFP4
Pull Down
31611645
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hermansky-Pudlak Syndrome 3

HPS3

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 3

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency

Hps Without Pulmonary Fibrosis

Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis
Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency
Hermansky-Pudlak Syndrome 2

HPS2

Hermansky Pudlak Syndrome 2

Platelet Defects And Oculocutaneous Albinism

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 2

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Oculocutaneous Albinism

Albinism, Oculocutaneous

Oca

Albinism Oculocutaneous

Oca - [Oculocutaneous Albinism]
Pulmonary Fibrosis

Fibrosis Of Lung
Albinism
Storage Pool Platelet Disease

Platelet Storage Pool Deficiency

Storage Pool Disease Of Platelets

Dense Body Defect

Platelet Dense Granule Deficiency

Platelet Storage Pool Defect

Platelet Storage Pool Diseases

Alpha Delta Granule Deficiency

Alpha Dense Granule Deficiency

Combined Alpha-Delta Platelet Storage Pool Deficiency
Bleeding Disorder, Platelet-Type, 14

Thromboxane Synthetase Deficiency

BDPLT14

Platelet-Type Bleeding Disorder 14

Thromboxane Synthase Deficiency
Bleeding Disorder, Platelet-Type, 8

Bleeding Disorder Due To P2ry12 Defect

Platelet-Type Bleeding Disorder 8

BDPLT8

Adp Platelet Receptor P2y12 Defect

P2y12 Defect

Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect

Bleeding Disorder Due To P2y12 Defect

Bleeding Disorder Due To P2rx1 Defect, Somatic

Bleeding Disorder, Platelet-Type 8

Adp Platelet Receptor P2y12 Deficiency

P2ry12 Deficiency

P2y12 Deficiency

Bleeding Disorder, Platelet Type 8
Albinism, Oculocutaneous, Type Iv

OCA4

Oculocutaneous Albinism Type 4

Oculocutaneous Albinism, Type Iv

Oculocutaneous Albinism Type Iv

Albinism, Oculocutaneous, 4
Pathologic Nystagmus

Nystagmus
Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism

Oculocutaneous Albinism Type 3

OCA3

Roca

Xanthism

Oculocutaneous Albinism Type Iii

Albinism Iii

Oculocutaneous Albinism, Type Iii

Albinism 3

Albinism, Oculocutaneous, Type 3

Rufous Oca

Red Oculocutaneous Albinism

Xanthous Oculocutaneous Albinism

Albinism, Oculocutaneous, 3

Oca-Iii
Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive
Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital
Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment
Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease
Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome
Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular
Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-180832 COX-1 ligand 1 Ligand / 否
HY-RS06346 HPS3 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HPS3 VGNC VGNC:62838
Canis familiaris HPS3 VGNC VGNC:41775
Rattus norvegicus HPS3 RGD RGD:1310548
Macaca mulatta HPS3 VGNC VGNC:73393
Bos taurus HPS3 VGNC VGNC:29944
Mus musculus HPS3 MGD MGI:2153839
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