InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Hps4

Summary

InnateDB Protein

IDBP-256178.6

Last Modified

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

Gene Symbol

Hps4

Protein Name

Hermansky-Pudlak syndrome 4 homolog (human)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000107978

InnateDB Gene

IDBG-191201 (Hps4)

Protein Structure

UniProt Annotation

Function

May function in the pathway of organelle biogenesis. May function with HPS1.

Subcellular Localization

Disease Associations

Note=Defects in Hps4 are the cause of the light ear (le) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets.

Tissue Specificity

Highly expressed in heart, brain, liver and testis. Expressed at lower level 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 2 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	2 [view]

Gene Ontology

Molecular Function

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

Biological Process

GO:0006605	protein targeting
GO:0006996	organelle organization
GO:0007040	lysosome organization
GO:0007596	blood coagulation
GO:0030318	melanocyte differentiation
GO:0050821	protein stabilization

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0016020	membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0031085	BLOC-3 complex
GO:0042470	melanosome
GO:0042827	platelet dense granule