AP3B1 Antibody

Code CSB-PA001874GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
AP3B1
Alternative Names
Adapter related protein complex 3 beta 1 subunit antibody; Adapter-related protein complex 3 subunit beta-1 antibody; Adaptor protein complex AP-3 subunit beta-1 antibody; Adaptor protein complex AP3 beta1 subunit antibody; ADTB3 antibody; ADTB3A antibody; AP-3 complex subunit beta-1 antibody; AP3 complex beta1 subunit antibody; AP3B1 antibody; AP3B1_HUMAN antibody; Beta-3A-adaptin antibody; Beta3A adaptin antibody; Clathrin assembly protein complex 3 beta 1 large chain antibody; Clathrin assembly protein complex 3 beta-1 large chain antibody; HPS antibody; PE antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human AP3B1
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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.
Gene References into Functions
  1. point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively PMID: 28585318
  2. Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. PMID: 25980904
  3. Using a co-affinity purification strategy, authors have identified the beta subunit of the AP-3 adapter protein complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus. PMID: 25210190
  4. Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3. PMID: 23144738
  5. The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1. PMID: 19679886
  6. diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles. PMID: 19934039
  7. Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency. PMID: 11809908
  8. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) PMID: 12125811
  9. We defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus perturbs proper assembly of the heterotetrameric AP-3 complex. PMID: 16537806
  10. A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis. PMID: 16551969
  11. Mutations in AP3B1 is not associated with familial hemophagocytic lymphohistiocytosis PMID: 18000860
  12. AP-1 and AP-3 are involved in the formation of distinct types of clathrin-coated vesicles, each of which is characterized by the incorporation of specific cargo membrane proteins PMID: 18410487
  13. Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts. PMID: 19246570

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Involvement in disease
Hermansky-Pudlak syndrome 2 (HPS2)
Subcellular Location
Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus.
Protein Families
Adaptor complexes large subunit family
Tissue Specificity
Ubiquitously expressed.
Database Links

HGNC: 566

OMIM: 203300

KEGG: hsa:8546

STRING: 9606.ENSP00000255194

UniGene: Hs.532091

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