InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Hps1

Summary

InnateDB Protein

IDBP-167895.6

Last Modified

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

Gene Symbol

Hps1

Protein Name

Hermansky-Pudlak syndrome 1 homolog (human)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000026194

InnateDB Gene

IDBG-167893 (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

Note=Defects in Hps1 are the cause of the pale ear (ep) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets.

Tissue Specificity

Expressed in all tissues examined with the possible exception of skeletal muscle. The highest expression was observed in lung, liver, kidney and spleen.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0046983	protein dimerization activity

Biological Process

GO:0006996	organelle organization
GO:0007596	blood coagulation
GO:0030318	melanocyte differentiation
GO:0032816	positive regulation of natural killer cell activation
GO:0033299	secretion of lysosomal enzymes
GO:0043473	pigmentation
GO:0048069	eye pigmentation
GO:0060041	retina development in camera-type eye