Version 5.4
| Homo sapiens Gene: HPS3 | |||||||||||||||
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| Summary | |||||||||||||||
| InnateDB Gene | IDBG-60543.6 | ||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
| Gene Symbol | HPS3 | ||||||||||||||
| Gene Name | Hermansky-Pudlak syndrome 3 | ||||||||||||||
| Synonyms | |||||||||||||||
| Species | Homo sapiens | ||||||||||||||
| Ensembl Gene | ENSG00000163755 | ||||||||||||||
| Encoded Proteins |
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 3
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| Protein Structure | |||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
| Entrez Gene | |||||||||||||||
| Summary |
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||||||
| Type | Protein coding | ||||||||||||||
| Genomic Location | Chromosome 3:149129584-149173732 | ||||||||||||||
| Strand | Forward strand | ||||||||||||||
| Band | q24 | ||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||
| SwissProt | |||||||||||||||
| TrEMBL | |||||||||||||||
| UniProt Splice Variant | |||||||||||||||
| Entrez Gene | |||||||||||||||
| UniGene | Hs.591311 Hs.674817 | ||||||||||||||
| RefSeq | NM_032383 XM_005247834 XM_006713788 | ||||||||||||||
| HUGO | |||||||||||||||
| OMIM | |||||||||||||||
| CCDS | CCDS3140 | ||||||||||||||
| HPRD | 05835 | ||||||||||||||
| IMGT | |||||||||||||||
| EMBL | |||||||||||||||
| GenPept | |||||||||||||||
| RNA Seq Atlas | |||||||||||||||