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

Homo sapiens

Also known as HPS; BLOC3S1

Gene ID: 3257 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	23084991	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12756248	GOA
enables protein dimerization activity	IPI IPI: Inferred from physical interaction	12663659	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in melanosome assembly	IDA IDA: Inferred from direct assay	23084991	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-3 complex	IPI IPI: Inferred from physical interaction	12756248	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12756248	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	11836498	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

BLOC-3 complex member HPS1

Hermansky-Pudlak syndrome 1 protein

HPS1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	GMS	12756248
Intra	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Anti Tag CoIP	12756248
Intra	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Density Sedimentation	12756248
Intra	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	GMS	20048159
Intra	HPS1	Q92902	HPS4	Homo sapiens	Q9NQG7	Solution Sedimentation	20048159

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06345	HPS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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