InnateDB Protein
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IDBP-541357.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Hps5
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Protein Name
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Hermansky-Pudlak syndrome 5 homolog (human)
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000122887
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InnateDB Gene
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IDBG-186528 (Hps5)
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Protein Structure
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Function |
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000250}.
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Disease Associations |
Note=Defects in Hps5 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.
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Tissue Specificity |
Widely expressed, with lowest expression in skeletal muscle and spleen.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2180307
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InterPro |
IPR017217
BLOC-2 complex, Hps5 subunit
IPR017986
WD40-repeat-containing domain
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PFAM |
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PRINTS |
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PIRSF |
PIRSF037475
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P59438
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PhosphoSite |
PhosphoSite-P59438
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TrEMBL |
D3Z3L4
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UniProt Splice Variant |
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Entrez Gene |
246694
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UniGene |
Mm.393925
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RefSeq |
XP_006540969
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MGI ID |
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MGI Symbol |
Hps5
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OMIM |
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CCDS |
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HPRD |
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IMGT |
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EMBL |
AC090122
AF534396
AF534397
AF534398
AF534399
BC046405
CH466603
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GenPept |
AAH46405
AAO25958
AAO25959
AAO25960
AAO25961
EDL22941
EDL22942
EDL22943
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