Property Summary

NCBI Gene PubMed Count 43
PubMed Score 19.58
PubTator Score 23.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Rheumatoid Arthritis 1.200 1.8e-02
osteosarcoma 1.136 3.7e-04
ependymoma 1.100 2.3e-13
atypical teratoid / rhabdoid tumor 1.200 7.0e-07
pituitary cancer -1.100 4.8e-07

Gene RIF (24)

PMID Text
25980904 Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
25210190 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.
23144738 Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3.
22875976 AP3B1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release. Expression of the AP3B1 reverses the inhibited assembly and release of HIV-1 in HPS2 fibroblasts
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20133826 AP3B1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release. Expression of the AP3B1 reverses the inhibited assembly and release of HIV-1 in HPS2 fibroblasts
19934039 diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles.
19934039 AP3B1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release. Expression of the AP3B1 reverses the inhibited assembly and release of HIV-1 in HPS2 fibroblasts
19913121 Observational study of gene-disease association. (HuGE Navigator)
19679886 The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1.
19481122 Observational study of gene-disease association. (HuGE Navigator)
19320733 Observational study of gene-disease association. (HuGE Navigator)
19246570 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.
19023099 Observational study of gene-disease association. (HuGE Navigator)
18410487 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
18076669 AP3B1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release. Expression of the AP3B1 reverses the inhibited assembly and release of HIV-1 in HPS2 fibroblasts
18000860 Mutations in AP3B1 is not associated with familial hemophagocytic lymphohistiocytosis
17975119 Observational study of gene-disease association. (HuGE Navigator)
17569884 Observational study of gene-disease association. (HuGE Navigator)
16551969 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.
16537806 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.
12125811 Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
11809908 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.

AA Sequence

MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMI      1 - 70
AKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLS     71 - 140
SIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMA    141 - 210
FEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQ    211 - 280
KEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQ    281 - 350
YIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQF    351 - 420
AAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSI    421 - 490
TVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILN    491 - 560
LGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKA    561 - 630
TGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSES    631 - 700
GEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSND    701 - 770
ESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSP    771 - 840
SLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTT    841 - 910
DRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVG    911 - 980
ELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTV    981 - 1050
HSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG                             1051 - 1094
//

Text Mined References (52)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25980904 2015 Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25210190 2014 Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23144738 2012 AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.
22511774 2012 BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.
21901158 2011 Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19934039 2009 Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19841138 2009 AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis.
19679886 2010 Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
19481122 2009 Association analysis between schizophrenia and the AP-3 complex genes.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19320733 2009 Pigmentation-related genes and their implication in malignant melanoma susceptibility.
19246570 2009 Exploring the human genome with functional maps.
19023099 2009 Gene variants associated with ischemic stroke: the cardiovascular health study.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18410487 2008 AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.
18088087 2008 Phosphoproteome of resting human platelets.
18000860 2008 Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
17975119 2008 Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17897319 2007 Integral and associated lysosomal membrane proteins.
17622474 2007 Involvement of beta3A subunit of adaptor protein-3 in intracellular trafficking of receptor-like protein tyrosine phosphatase PCP-2.
17569884 2007 A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16551969 2006 Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
16537806 2006 Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16112646 2005 Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12125811 2002 Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
12062430 2002 Identification of casein kinase Ialpha interacting protein partners.
11877451 2002 Regulation of arrestin-3 phosphorylation by casein kinase II.
11861280 2002 The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
11452004 2001 AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.
10024875 1999 Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
9931340 1999 The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.
9182526 1997 Beta3A-adaptin, a subunit of the adaptor-like complex AP-3.
9151686 1997 Characterization of the adaptor-related protein complex, AP-3.
8413179 1993 Genetic analysis of human p34CDC2 function in fission yeast.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.