Homo sapiens Gene: AP3M1
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
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:74120255-74151063
Strand Reverse strand
Band q22.2
Transcripts
ENST00000355264 ENSP00000347408
ENST00000372745 ENSP00000361831
ENST00000480373
ENST00000487653
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated
Total 22 [view]
Protein-Protein 20 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
Biological Process
GO:0006622 protein targeting to lysosome
GO:0006810 transport
GO:0006886 intracellular protein transport
GO:0008089 anterograde axon cargo transport
GO:0016192 vesicle-mediated transport
GO:0048490 anterograde synaptic vesicle transport
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0030131 clathrin adaptor complex
GO:0030659 cytoplasmic vesicle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Protein folding pathway
Chaperonin-mediated protein folding pathway
Metabolism of proteins pathway
Association of TriC/CCT with target proteins during biosynthesis pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
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