HPS5 - HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Gene

Also Known as AIBP63; BLOC2S2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11234

About HPS5

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:18,278,670-18,322,174 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 208 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 12.4), liver (RPKM 9.8) 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. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of Integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

HPS5 Products (3)

mRNA	Protein	Name
NM_007216.4	NP_009147.3	BLOC-2 complex member HPS5 isoform b
NM_181507.2	NP_852608.1	BLOC-2 complex member HPS5 isoform a
NM_181508.1	NP_852609.1	BLOC-2 complex member HPS5 isoform b

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

Protein Preferred Names	Protein Names
BLOC-2 complex member HPS5 Hermansky-Pudlak syndrome 5 protein	alpha integrin binding protein 63

Protein Preferred Names

Protein Names

BLOC-2 complex member HPS5

Hermansky-Pudlak syndrome 5 protein

alpha integrin binding protein 63

HPS5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	HPS5	Q9UPZ3	sifA	Salmonella typhimurium	A0A0H3NFP4	Anti Tag CoIP	31611645
Cross	HPS5	Q9UPZ3	sifA	Salmonella typhimurium	A0A0H3NFP4	Pull Down	31611645

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hermansky-Pudlak Syndrome 5	HPS5 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 5 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
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 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 6	HPS6 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 6 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Pulmonary Fibrosis	Fibrosis Of Lung
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
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
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
Ghosal Hematodiaphyseal Dysplasia	Ghosal Syndrome Ghosal Hematodiaphyseal Syndrome GHDD Diaphyseal Dysplasia-Anemia Syndrome Ghosal Hematodiaphyseal Dysplasia Syndrome Diaphyseal Dysplasia Associated With Anemia Ghosal Hemato-Diaphyseal Dysplasia Ghosal-Type Hemato-Diaphyseal Dysplasia
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
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
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
Pathologic Nystagmus	Nystagmus
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
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
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
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06348	HPS5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HPS5	VGNC	VGNC:29946
Mus musculus	HPS5	MGD	MGI:2180307
Macaca mulatta	HPS5	VGNC	VGNC:73402
Canis familiaris	HPS5	VGNC	VGNC:41777
Rattus norvegicus	HPS5	RGD	RGD:1311916
Felis catus	HPS5	VGNC	VGNC:62840
Others	HPS5	NCBI