HPS4 - HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Gene

Also Known as LE; BLOC3S2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 89781

About HPS4

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,443,109-26,483,863 (from NCBI)

This gene has 49 transcripts (splice variants), 204 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues.

Summary

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

HPS4 Products (12)

mRNA	Protein	Name
NM_001349896.1	NP_001336825.1	BLOC-3 complex member HPS4 isoform a
NM_001349898.2	NP_001336827.1	BLOC-3 complex member HPS4 isoform a
NM_001349899.2	NP_001336828.1	BLOC-3 complex member HPS4 isoform a
NM_001349900.2	NP_001336829.1	BLOC-3 complex member HPS4 isoform c
NM_001349901.1	NP_001336830.1	BLOC-3 complex member HPS4 isoform c
NM_001349902.1	NP_001336831.1	BLOC-3 complex member HPS4 isoform d
NM_001349903.2	NP_001336832.1	BLOC-3 complex member HPS4 isoform d
NM_001349904.2	NP_001336833.1	BLOC-3 complex member HPS4 isoform e
NM_001349905.1	NP_001336834.1	BLOC-3 complex member HPS4 isoform e
NM_001410832.1	NP_001397761.1	BLOC-3 complex member HPS4 isoform f
NM_022081.6	NP_071364.4	BLOC-3 complex member HPS4 isoform a
NM_152841.2	NP_690054.1	BLOC-3 complex member HPS4 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	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
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	12663659	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	20048159	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in lysosome organization	IDA IDA: Inferred from direct assay	12663659	GOA
involved in melanosome assembly	IDA IDA: Inferred from direct assay	23084991	GOA
involved in protein stabilization	IPI IPI: Inferred from physical interaction	12663659	GOA
involved in protein targeting	IDA IDA: Inferred from direct assay	12663659	GOA

Cellular Component GO Annotation	Evidence	Verweise	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 lysosome	IDA IDA: Inferred from direct assay	12663659	GOA
located in melanosome	IDA IDA: Inferred from direct assay	12663659	GOA
located in membrane	IDA IDA: Inferred from direct assay	12756248	GOA
located in platelet dense granule	IDA IDA: Inferred from direct assay	12756248	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 HPS4 Hermansky-Pudlak syndrome 4 protein	light-ear protein homolog

Protein Preferred Names

Protein Names

BLOC-3 complex member HPS4

Hermansky-Pudlak syndrome 4 protein

light-ear protein homolog

HPS4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HPS4	Q9NQG7	HPS1	Homo sapiens	Q92902	Density Sedimentation	12756248
Intra	HPS4	Q9NQG7	HPS1	Homo sapiens	Q92902	Anti Tag CoIP	23084991
Intra	HPS4	Q9NQG7	HPS1	Homo sapiens	Q92902	Anti Bait CoIP	12756248
Intra	HPS4	Q9NQG7	HPS1	Homo sapiens	Q92902	GMS	12756248
Intra	HPS4	Q9NQG7	HPS1	Homo sapiens	Q92902	Anti Tag CoIP	12756248

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hermansky-Pudlak Syndrome 4	HPS4 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 4 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency	Hermansky-Pudlak Syndrome With Pulmonary Fibrosis Hps With Pulmonary Fibrosis
Albinism
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 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
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Pulmonary Fibrosis	Fibrosis Of Lung
Hermansky-Pudlak Syndrome 9	HPS9 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 9 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
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
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	BSSA2 Bernard-Soulier Syndrome Type A2 Bernard-Soulier Syndrome, Type A2 Bernard-Soulier Syndrome A2, Autosomal Dominant Autosomal Dominant Benign Bernard-Soulier Syndrome Benign Mediterranean Macrothrombocytopenia Bernard-Soulier Syndrome, Benign Autosomal Dominant
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
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
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
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
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS06347	HPS4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HPS4	VGNC	VGNC:41776
Rattus norvegicus	HPS4	RGD	RGD:1308070
Mus musculus	HPS4	MGD	MGI:2177742
Bos taurus	HPS4	VGNC	VGNC:29945
Macaca mulatta	HPS4	VGNC	VGNC:73396
Felis catus	HPS4	VGNC	VGNC:62839
Others	HPS4	NCBI