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

Homo sapiens

Also known as AIBP63; BLOC2S2

Gene ID: 11234 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25189619	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

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