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

Also Known as HPS; BLOC3S1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3257

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	References	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	References	Source
involved in melanosome assembly	IDA IDA: Inferred from direct assay	23084991	GOA

Cellular Component GO Annotation	Evidence	References	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

Protein Preferred Names

Protein Names

BLOC-3 complex member HPS1

Hermansky-Pudlak syndrome 1 protein

HPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

HPS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85203	HPS-1 Antibody (YA4895)	WB, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06345	HPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18946	Hps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25436	Hps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HPS1	NCBI