Version 5.4
| Homo sapiens Gene: AP3M1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-79007.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | AP3M1 | ||||||||||||||||||
| Gene Name | adaptor-related protein complex 3, mu 1 subunit | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000185009 | ||||||||||||||||||
| Encoded Proteins |
adaptor-related protein complex 3, mu 1 subunit
adaptor-related protein complex 3, mu 1 subunit
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 10:74120255-74151063 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q22.2 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 22 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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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Association of TriC/CCT with target proteins during biosynthesis pathway
Protein folding pathway
Chaperonin-mediated protein folding pathway
Metabolism of proteins pathway
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| KEGG |
Lysosome pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9Y2T2 | ||||||||||||||||||
| TrEMBL | A0A024QZR5 Q8NDP0 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 26985 | ||||||||||||||||||
| UniGene | Hs.500104 Hs.599567 Hs.713890 | ||||||||||||||||||
| RefSeq | NM_012095 NM_207012 XM_006717763 | ||||||||||||||||||
| HUGO | HGNC:569 | ||||||||||||||||||
| OMIM | 610366 | ||||||||||||||||||
| CCDS | CCDS7342 | ||||||||||||||||||
| HPRD | 16496 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF092092 AK026983 AL731576 AL833820 BC026232 BC067127 CH471083 | ||||||||||||||||||
| GenPept | AAD20446 AAH26232 AAH67127 BAB15614 CAD38682 CAI39670 EAW54552 EAW54553 EAW54554 | ||||||||||||||||||
| RNA Seq Atlas | 26985 | ||||||||||||||||||