InnateDB Protein
|
IDBP-34719.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
HPS5
|
Protein Name
|
Hermansky-Pudlak syndrome 5
|
Synonyms
|
AIBP63;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000265967
|
InnateDB Gene
|
IDBG-34715 (HPS5)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:15296495, ECO:0000269PubMed:17301833}.
|
Subcellular Localization |
Cytoplasm, cytosol {ECO:0000269PubMed:15030569}.
|
Disease Associations |
Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269PubMed:15296495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus. {ECO:0000269PubMed:15296495}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
1 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR017217
BLOC-2 complex, Hps5 subunit
IPR017986
WD40-repeat-containing domain
|
PFAM |
|
PRINTS |
|
PIRSF |
PIRSF037475
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9UPZ3
|
PhosphoSite |
PhosphoSite-Q9UPZ3
|
TrEMBL |
F5GWM5
|
UniProt Splice Variant |
|
Entrez Gene |
11234
|
UniGene |
Hs.437599
|
RefSeq |
NP_852608
|
HUGO |
HGNC:17022
|
OMIM |
607521
|
CCDS |
CCDS7836
|
HPRD |
07395
|
IMGT |
|
EMBL |
AB023234
AC084117
AC107948
AF534400
AF534401
AF534402
AJ131721
AK291663
AK292436
BC033640
CH471064
|
GenPept |
AAH33640
AAO25962
AAO25963
AAO25964
BAA76861
BAF84352
BAF85125
CAB38232
EAW68402
EAW68404
EAW68405
EAW68406
EAW68407
|
|
|