Homo sapiens Gene: AP3B1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-30467.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | AP3B1 | ||||||||||||||||||||||
Gene Name | adaptor-related protein complex 3, beta 1 subunit | ||||||||||||||||||||||
Synonyms | ADTB3; ADTB3A; HPS; HPS2; PE | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000132842 | ||||||||||||||||||||||
Encoded Proteins |
adaptor-related protein complex 3, beta 1 subunit
adaptor-related protein complex 3, beta 1 subunit
adaptor-related protein complex 3, beta 1 subunit
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
InnateDB Annotation | |||||||||||||||||||||||
Summary |
AP3B1 (AP-3), a lysosome-related organelle trafficking and biogenesis protein, is required for the production of pro-inflammatory cytokines in plasmacytoid dendritic cells upon recognition of viral nucleic acids by endosomal TLR7 or TLR9.
AP3B1 is crucial for the trafficking of TLR9 to specific endosomal compartments for the induction of type I interferon.
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InnateDB Annotation from Orthologs | |||||||||||||||||||||||
Summary |
[Mus musculus] Ap3b1 (AP-3), a lysosome-related organelle trafficking and biogenesis protein, is required for the production of pro-inflammatory cytokines in plasmacytoid dendritic cells upon recognition of viral nucleic acids by endosomal Tlr7 or Tlr9.
[Mus musculus] Ap3b1 is crucial for the trafficking of Tlr9 to specific endosomal compartments for the induction of type I interferon.
[Mus musculus] Cytokine activation as a result of Tlr2 stimulation is mediated by the phagosomal trafficking molecule Ap3b1 (AP-3).
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Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 5:78000525-78294755 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q14.1 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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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 | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Golgi Associated Vesicle Biogenesis pathway
Clathrin derived vesicle budding pathway
trans-Golgi Network Vesicle Budding pathway
Membrane Trafficking pathway
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KEGG |
Lysosome pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.532091 Hs.561391 Hs.735481 | ||||||||||||||||||||||
RefSeq | NM_001271769 NM_003664 XM_005248618 XM_005248619 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS4041 CCDS64186 | ||||||||||||||||||||||
HPRD | 04551 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||