InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Hps3

Summary

InnateDB Protein

IDBP-133087.6

Last Modified

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

Gene Symbol

Hps3

Protein Name

Hermansky-Pudlak syndrome 3 homolog (human)

Synonyms

coa;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000012580

InnateDB Gene

IDBG-133085 (Hps3)

Protein Structure

UniProt Annotation

Function

Involved in early stages of melanosome biogenesis and maturation.

Subcellular Localization

Cytoplasm.

Disease Associations

Note=Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction.

Tissue Specificity

Found in heart, brain, spleen, liver, lung, kidney and testis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0006996	organelle organization
GO:0043473	pigmentation

Cellular Component

GO:0005737	cytoplasm
GO:0031084	BLOC-2 complex

Protein Structure and Domains

PDB ID

MGI:2153839

InterPro

IPR017216 Hermansky-Pudlak syndrome 3 protein

PFAM

PRINTS

PIRSF

PIRSF037473

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q91VB4

PhosphoSite

PhosphoSite-Q91VB4

TrEMBL

UniProt Splice Variant

Entrez Gene

12807

UniGene

Mm.413000

RefSeq

NP_542365

MGI ID

MGI Symbol

Hps3

OMIM

CCDS

CCDS17260

HPRD

IMGT

EMBL

AF393747 AF393780 AF396632 AF396633 AF396634 AF396635 AF396636 AF396637 AF396638 AF396639 AF396640 AF396641 AF396642 AF396643 AF396644 AF396645 AF396646 AF396647 AF396648 AF396700 AF396701 AF396702 AF396703 BC020105 BC058235 CH466530

GenPept

AAH20105 AAH58235 AAK84181 AAK84214 AAL37710 AAL84109 EDL34889