InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HPS1

Summary

InnateDB Protein

IDBP-85917.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HPS1

Protein Name

Hermansky-Pudlak syndrome 1

Synonyms

HPS;

Species

Homo sapiens

Ensembl Protein

ENSP00000343638

InnateDB Gene

IDBG-85907 (HPS1)

Protein Structure

UniProt Annotation

Function

Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.

Subcellular Localization

Disease Associations

Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269PubMed:9497254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0046983	protein dimerization activity

Biological Process

GO:0007040	lysosome organization
GO:0007601	visual perception

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005887	integral component of plasma membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0031085	BLOC-3 complex