InnateDB Protein
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IDBP-3140.6
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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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HPS4
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Protein Name
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Hermansky-Pudlak syndrome 4
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000338457
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InnateDB Gene
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IDBG-3138 (HPS4)
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Protein Structure
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Function |
May function in the pathway of organelle biogenesis.
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Subcellular Localization |
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Disease Associations |
Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: 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:11836498}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 1 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 |
1 [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 |
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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 |
Q9NQG7
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PhosphoSite |
PhosphoSite-Q9NQG7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
89781
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UniGene |
Hs.474436
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RefSeq |
XP_006724416
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HUGO |
HGNC:15844
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OMIM |
606682
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CCDS |
CCDS13835
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HPRD |
05983
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IMGT |
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EMBL |
AB051454
AK057648
AL365512
AL713795
AY043416
BC035614
Z99714
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GenPept |
AAK95330
BAB33337
BAB71540
CAB97208
CAD28549
CAI17880
CAQ09361
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