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

Homo sapiens

Also known as LE; BLOC3S2

Gene ID: 89781 | Gene type: protein coding

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	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
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	Reference	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	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 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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06347	HPS4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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