InnateDB Protein
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IDBP-173350.6
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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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Ap3b1
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Protein Name
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adaptor-related protein complex 3, beta 1 subunit
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Synonyms
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AP-3; AU015684; beta3A; C78395; Hps2; pe; pearl; rim2;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000022196
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InnateDB Gene
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IDBG-173348 (Ap3b1)
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Protein Structure
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Function |
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. {ECO:0000269PubMed:21998198}.
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Subcellular Localization |
Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.
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Disease Associations |
Note=Defects in Ap3b1 are the cause of the autosomal recessive phenotype 'pearl' (pe). Pearl mice exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet- dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark- adapted state (PubMed:9931340). {ECO:0000269PubMed:9931340}.
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Tissue Specificity |
Ubiquitously expressed.
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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 11 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[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 |
15 [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 |
MGI:1333879
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InterPro |
IPR002553
Clathrin/coatomer adaptor, adaptin-like, N-terminal
IPR016024
Armadillo-type fold
IPR026740
AP-3 complex subunit beta
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PFAM |
PF01602
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PRINTS |
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PIRSF |
PIRSF037096
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Z1T1
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PhosphoSite |
PhosphoSite-Q9Z1T1
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TrEMBL |
Q3UPG0
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UniProt Splice Variant |
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Entrez Gene |
11774
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UniGene |
Mm.21185
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RefSeq |
NP_033810
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MGI ID |
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MGI Symbol |
Ap3b1
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OMIM |
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CCDS |
CCDS26693
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HPRD |
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IMGT |
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EMBL |
AC122373
AC123043
AF103809
AF255566
AF255567
AF255568
AF255569
AF255570
AF255571
AF255572
AF255573
AF255574
AF255575
AF255576
AF255577
AF255578
AF255579
AF255580
AF255581
AF255582
AF255583
AF255584
AF255585
AF255586
AF255587
AF255588
AF255589
AK143559
BC015068
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GenPept |
AAC78338
AAG23622
AAH15068
BAE25435
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