InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HPS4

Summary

InnateDB Protein

IDBP-3140.6

Last Modified

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

Gene Symbol

HPS4

Protein Name

Hermansky-Pudlak syndrome 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000338457

InnateDB Gene

IDBG-3138 (HPS4)

Protein Structure

UniProt Annotation

Function

May function in the pathway of organelle biogenesis.

Subcellular Localization

Disease Associations

Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: 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:11836498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

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

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0006605	protein targeting
GO:0007040	lysosome organization
GO:0007599	hemostasis
GO:0048075	positive regulation of eye pigmentation
GO:0050821	protein stabilization