InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Hps6

Summary

InnateDB Protein

IDBP-171751.6

Last Modified

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

Gene Symbol

Hps6

Protein Name

Hermansky-Pudlak syndrome 6

Synonyms

5330434M19Rik; BLOC2; ru;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000096991

InnateDB Gene

IDBG-171749 (Hps6)

Protein Structure

UniProt Annotation

Function

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.

Subcellular Localization

Microsome membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Early endosome membrane {ECO:0000250}.

Disease Associations

Note=Defects in Hps6 are the cause of Hermansky-Pudlak- like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated "kiss-and- run" fusion at the plasma membrane.

Tissue Specificity

Widely expressed, with lowest expression in skeletal muscle.

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 10 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	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017137	Rab GTPase binding
GO:0030742	GTP-dependent protein binding

Biological Process

GO:0006996	organelle organization
GO:0007596	blood coagulation
GO:0030318	melanocyte differentiation
GO:0043473	pigmentation
GO:0072657	protein localization to membrane