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

中文名称：HPS1 溶酶体细胞器复合物 3 亚基 1 的生物发生

种属: Homo sapiens

同用名: HPS; BLOC3S1

基因 ID: 3257 | 基因类型: protein coding

关于 HPS1

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:98,413,948-98,446,935 (from NCBI)

This gene has 57 transcripts (splice variants), 197 orthologues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 13.6), bone marrow (RPKM 13.3) and 25 other tissues.

功能概要

该基因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。编码的蛋白质是三种不同蛋白质复合物的组成部分，称为溶酶体相关细胞器复合物 (BLOC) -3、BLOC4 和 BLOC5 的生物合成。该基因的突变与 1 型 Hermansky-Pudlak 综合征有关。可变剪接导致多个转录本变体。与该基因相关的假基因位于 22 号染色体上。[RefSeq 提供，2015 年 8 月]

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

HPS1 基因产物(18)

mRNA	Protein	Name
NM_000195.5	NP_000186.2	BLOC-3 complex member HPS1 isoform a
NM_001311345.2	NP_001298274.1	BLOC-3 complex member HPS1 isoform e
NM_001322476.2	NP_001309405.1	BLOC-3 complex member HPS1 isoform a
NM_001322477.2	NP_001309406.1	BLOC-3 complex member HPS1 isoform a
NM_001322478.2	NP_001309407.1	BLOC-3 complex member HPS1 isoform f
NM_001322479.2	NP_001309408.1	BLOC-3 complex member HPS1 isoform f
NM_001322480.2	NP_001309409.1	BLOC-3 complex member HPS1 isoform g
NM_001322481.2	NP_001309410.1	BLOC-3 complex member HPS1 isoform g
NM_001322482.2	NP_001309411.1	BLOC-3 complex member HPS1 isoform h
NM_001322483.2	NP_001309412.1	BLOC-3 complex member HPS1 isoform i
NM_001322484.2	NP_001309413.1	BLOC-3 complex member HPS1 isoform i
NM_001322485.2	NP_001309414.1	BLOC-3 complex member HPS1 isoform j
NM_001322487.2	NP_001309416.1	BLOC-3 complex member HPS1 isoform e
NM_001322489.2	NP_001309418.1	BLOC-3 complex member HPS1 isoform e
NM_001322490.2	NP_001309419.1	BLOC-3 complex member HPS1 isoform k
NM_001322491.2	NP_001309420.1	BLOC-3 complex member HPS1 isoform l
NM_001322492.2	NP_001309421.1	BLOC-3 complex member HPS1 isoform m
NM_182639.4	NP_872577.1	BLOC-3 complex member HPS1 isoform c

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
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	23084991	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12756248	GOA
enables protein dimerization activity	IPI IPI: 通过物理相互作用推断	12663659	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in melanosome assembly	IDA IDA: 通过直接分析推断	23084991	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of BLOC-3 complex	IPI IPI: 通过物理相互作用推断	12756248	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	12756248	GOA
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	11836498	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

BLOC-3 complex member HPS1

Hermansky-Pudlak syndrome 1 protein

HPS1 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
种属内	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	GMS	12756248
种属内	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Anti Tag CoIP	12756248
种属内	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Density Sedimentation	12756248
种属内	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	GMS	20048159
种属内	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Solution Sedimentation	20048159

种属间: 跨种属相互作用 种属内: 同种属相互作用

HPS1 抗体

目录号	产品名	应用	反应物种
HY-P85203	HPS-1 Antibody (YA4895)	WB, ELISA	Human

关联疾病

疾病名称

别名

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 Due To Bloc-3 Deficiency

Hermansky-Pudlak Syndrome With Pulmonary Fibrosis

Hps With Pulmonary Fibrosis

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Pulmonary Fibrosis

Fibrosis Of Lung

Albinism

Oculocutaneous Albinism

Albinism, Oculocutaneous	Oca
Albinism Oculocutaneous	Oca - [Oculocutaneous Albinism]

Dermatopathia Pigmentosa Reticularis

DPR

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

Melanoma In Congenital Melanocytic Nevus

Malignant Melanoma In Congenital Melanocytic Nevus	Melanocytic Nevi
Nevi Melanocytic

Albinism, Oculocutaneous, Type Ib

OCA1B	Oculocutaneous Albinism Type 1b
Albinism, Yellow Mutant Type	Yellow Albinism
Oculocutaneous Albinism Type Ib	Temperature-Sensitive Oculocutaneous Albinism Type 1
Oculocutaneous Albinism, Type Ib	Yellow Mutant Albinism
Oca1-Ts	Ts Oca Type 1
Oculocutaneous Albinism, Amish Type	Platinum Oculocutaneous Albinism
Yellow Oculocutaneous Albinism	Albinism, Oculocutaneous, 1b
Albinism Yellow Mutant Type	Oca-Ib
Oca-Its	Oculocutaneous Albinism Type I Temperature-Sensitive
Albinism, Oculocutaneous, Type I, Temperature-Sensitive	Minimal Pigment Oculocutaneous Albinism

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06345	HPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS18946	Hps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS25436	Hps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	HPS1	VGNC	VGNC:41774
Felis catus	HPS1	VGNC	VGNC:67640
Macaca mulatta	HPS1	VGNC	VGNC:73515
Rattus norvegicus	HPS1	RGD	RGD:69193
Mus musculus	HPS1	MGD	MGI:2177763
Bos taurus	HPS1	VGNC	VGNC:29943
Macaca fascicularis	HPS1	NCBI	NCBI:102135630
Others	HPS1	NCBI

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站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 HPS1

功能概要

HPS1 基因产物(18)

HPS1 蛋白互作信息

HPS1 抗体

关联疾病

直系同源

热门区域

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

关于 HPS1

功能概要

HPS1 基因产物(18)

HPS1 蛋白互作信息

HPS1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z