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

Also Known as SUTAL; BLOC2S1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84343

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25189619	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BLOC-2 complex	IPI IPI: Inferred from physical interaction	15030569	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

HPS3 Protein Structure

HPS3_N

HPS3_Mid

HPS3_C

0
200
400
600
800
1004 a.a.

Protein Preferred Names	Protein Names
BLOC-2 complex member HPS3 Hermansky-Pudlak syndrome 3 protein

Protein Preferred Names

Protein Names

BLOC-2 complex member HPS3

Hermansky-Pudlak syndrome 3 protein

HPS3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	HPS3	Q969F9	sifA	Salmonella typhimurium	A0A0H3NFP4	Pull Down	31611645

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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]

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-180832	COX-1 ligand 1	Ligand	/	Unkown
HY-RS06346	HPS3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	HPS3	NCBI