InnateDB Protein
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IDBP-85909.6
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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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HPS1
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Protein Name
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Hermansky-Pudlak syndrome 1
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Synonyms
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HPS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000326649
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InnateDB Gene
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IDBG-85907 (HPS1)
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Protein Structure
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Function |
Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.
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Subcellular Localization |
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Disease Associations |
Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: 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:9497254}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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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 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92902
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PhosphoSite |
PhosphoSite-Q92902
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3257
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UniGene |
Hs.404568
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RefSeq |
NP_000186
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HUGO |
HGNC:5163
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OMIM |
604982
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CCDS |
CCDS7475
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HPRD |
05403
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IMGT |
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EMBL |
AF450133
AL139243
BC000175
CH471066
U65676
U79123
U79124
U79125
U79126
U79127
U79128
U79129
U79130
U79131
U79132
U79133
U79134
U79135
U79136
U96721
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GenPept |
AAB17869
AAB70662
AAC52074
AAH00175
AAL50684
CAI14152
CAI14153
EAW49882
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