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AP3B1 Gene

protein-coding   GIFtS: 66
GCID: GC05M077296

Adaptor-Related Protein Complex 3, Beta 1 Subunit

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 3, Beta 1 Subunit1 2     PE2
ADTB3A2 3 5     AP-3 Complex Beta-3A Subunit2
Adaptor Protein Complex AP-3 Subunit Beta-12 3     AP-3 Complex Subunit Beta-12
Clathrin Assembly Protein Complex 3 Beta-1 Large Chain2 3     beta-3A-adaptin2
HPS22 5     Beta-3A-adaptin3
ADTB32     Adapter-Related Protein Complex 3 Subunit Beta-13
HPS2     

External Ids:    HGNC: 5661   Entrez Gene: 85462   Ensembl: ENSG000001328427   OMIM: 6034015   UniProtKB: O002033   

Export aliases for AP3B1 gene to outside databases

Previous GC identifers: GC05M076103 GC05M077532 GC05M077336 GC05M077383 GC05M077384 GC05M077333 GC05M072504


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AP3B1 Gene:
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)

GeneCards Summary for AP3B1 Gene:
AP3B1 (adaptor-related protein complex 3, beta 1 subunit) is a protein-coding gene. Diseases associated with AP3B1 include hermansky pudlak syndrome 2, and hermansky-pudlak syndrome 1. GO annotations related to this gene include protein phosphatase binding. An important paralog of this gene is AP3B2.

UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203
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 Wiki entry for AP3B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP3B1 gene promoter:
         AhR   Sox5   Nkx2-5   Arnt   HNF-4alpha1   FOXO1a   ZIC2/Zic2   FOXO1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP3B1 promoter sequence
   Search Chromatin IP Primers for AP3B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP3B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q14.1   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

AP3B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP3B1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M077296:  view genomic region     (about GC identifiers)

Start:
77,296,349 bp from pter      End:
77,590,579 bp from pter
Size:
294,231 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203 (See protein sequence)
Recommended Name: AP-3 complex subunit beta-1  
Size: 1094 amino acids; 121320 Da
Subunit: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a
heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a
medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2)
Secondary accessions: O00580 Q7Z393 Q9HD66
Alternative splicing: 2 isoforms:  O00203-1   O00203-2   (May be due to a competing donor splice site. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP3B1: NX_O00203

Explore proteomics data for AP3B1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues1
  • Ubiquitination2 at Lys512, Lys523, Lys552, Lys596, Lys602, Lys658
  • Modification sites at PhosphoSitePlus

  • See AP3B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258698.1  NP_003655.3  

    ENSEMBL proteins: 
     ENSP00000255194   ENSP00000430597   ENSP00000429228  
    Reactome Protein details: O00203

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR026740 AP3_beta
     IPR026739 AP_beta
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O00203

    ProtoNet protein and cluster: O00203

    1 Blocks protein domain: IPB002553 Adaptin

    UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203
    Similarity: Belongs to the adaptor complexes large subunit family


    AP3B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP3B1_HUMAN, O00203
    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 Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0019903protein phosphatase binding IPI17622474
         
    AP3B1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 17 alleles(MGI details for Ap3b1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  pigmentation  renal/urinary system 

    AP3B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ap3b1tm1.1Sms for AP3B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP3B1
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    miRNA
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    miRTarBase miRNAs that target AP3B1:
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    Block miRNA regulation of human, mouse, rat AP3B1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP3B1 (see all 16):
    hsa-miR-4286 hsa-miR-3660 hsa-miR-488 hsa-miR-340 hsa-miR-888* hsa-miR-9 hsa-miR-630 hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmidAP3B1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP3B1_HUMAN, O00203: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane
    protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat
    surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol2
    lysosome2
    vacuole2
    extracellular1
    mitochondrion1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005794Golgi apparatus IEA--
    GO:0030117membrane coat ----
    GO:0030123AP-3 adaptor complex IEA--
    GO:0030665clathrin-coated vesicle membrane IEA--

    AP3B1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP3B1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for AP3B1
        Golgi Associated Vesicle Biogenesis


    1 Kegg Pathway  (Kegg details for AP3B1):
        Lysosome


    AP3B1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP3B1
    Interactions:

        Search GeneGlobe Interaction Network for AP3B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP3B1 (O002032, 3 ENSP000002551944) via UniProtKB, MINT, STRING, and/or I2D (see all 637)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUB1O436832, 3, ENSP000003025304MINT-7945693 I2D: score=1 STRING: ENSP00000302530
    ATMQ133152, 3MINT-7945693 I2D: score=1 
    ARF5P840852, 3, ENSP000000002334MINT-7945693 I2D: score=1 STRING: ENSP00000000233
    BUB1BO605662, 3, ENSP000002875984MINT-7945693 I2D: score=1 STRING: ENSP00000287598
    SLC30A3Q997263, ENSP000002335354I2D: score=3 STRING: ENSP00000233535
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006622protein targeting to lysosome IEA--
    GO:0006886intracellular protein transport TAS9931340
    GO:0007596blood coagulation IEA--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0016192vesicle-mediated transport ----

    AP3B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for AP3B1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AP3B1 gene (2 alternative transcripts): 
    NM_001271769.1  NM_003664.4  

    Unigene Cluster for AP3B1:

    Adaptor-related protein complex 3, beta 1 subunit
    Hs.532091  [show with all ESTs]
    Unigene Representative Sequence: NM_001271769
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255194(uc003kfj.3) ENST00000519295 ENST00000522901 ENST00000520122
    ENST00000523204 ENST00000519888 ENST00000517940 ENST00000517561
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AP3B1 (see all 16):
    hsa-miR-4286 hsa-miR-3660 hsa-miR-488 hsa-miR-340 hsa-miR-888* hsa-miR-9 hsa-miR-630 hsa-miR-223*
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      QuantiFast Probe-based Assays in human, mouse, rat AP3B1

    Additional mRNA sequence: 

    AK225908.1 AK291201.1 AK303300.1 AY623424.1 BC020230.1 BC038444.1 BC113045.1 BX538041.1 
    U81504.1 U91931.1 

    8 DOTS entries:

    DT.415148  DT.75177354  DT.423287  DT.75103025  DT.75103026  DT.95122524  DT.120875558  DT.415149 

    Selected AceView cDNA sequences (see all 218):

    AI651128 CA422426 BQ270487 AW504067 AW337990 AI224874 AA715026 CB155454 
    CA449860 AI499303 AW770156 NM_003664 AI762214 AA594245 AW135530 BM828668 
    BG319466 AA421742 CD106761 CA413472 BQ005667 CA448052 AA807071 AI818741 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for AP3B1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:        -                                                                                                                                                   
    SP2:                                                                                                                                                            

    ExUns: 26 ^ 27
    SP1:            
    SP2:            


    ECgene alternative splicing isoforms for AP3B1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AP3B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTATCTC
    AP3B1 Expression
    About this image


    AP3B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    AP3B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP3B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532091

    UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AP3B1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap3b11 , 5 adaptor-related protein complex 3, beta 1 subunit1, 5 84.03(n)1
    86.75(a)1
      13 (49.22 cM)5
    117741  NM_009680.31  NP_033810.21 
     943589605 
    chicken
    (Gallus gallus)
    Aves AP3B11 adaptor-related protein complex 3, beta 1 subunit 75.98(n)
    80.35(a)
      427646  XM_003642955.2  XP_003643003.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP3B16
    adaptor-related protein complex 3, beta 1 subunit
    79(a)
    1 ↔ 1
    2(13375588-13558293)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ071341.12   -- 75.28(n)    BJ071341.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AP3B16
    adaptor-related protein complex 3, beta 1 subunit
    63(a)
    1 ↔ 1
    7(29269898-29377078) ENSDARG00000086124
    fruit fly
    (Drosophila melanogaster)
    Insecta rb1 , 3 ommochrome biosynthesis3
    ruby1
    47(a)3
    60(n)1
    64.73(a)1
      1 4C73
    313811  NM_080332.31  NP_525071.21 
    worm
    (Caenorhabditis elegans)
    Secernentea apb-36
    Protein APB-3, isoform a (apb-3) mRNA, complete cd...
    39(a)
    1 → many
    I(7853750-7857834) WBGene00000163
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL6(YGR261C)4 Beta3-like subunit of the yeast AP-3 complex; functions more   --   7(1016750-1014321) 853177  NP_011777.1 


    ENSEMBL Gene Tree for AP3B1 (if available)
    TreeFam Gene Tree for AP3B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP3B1 gene
    AP3B22  
    3 SIMAP similar genes for AP3B1 using alignment to 4 protein entries:     AP3B1_HUMAN (see all proteins):
    DKFZp686D17136    AP3B2    AP1B1

    AP3B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AP3B1 (see all 5594)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0115964
    Hermansky-Pudlak syndrome 2 (HPS2)4--see VAR_0115962 L R mis40--------
    rs1219089071,2
    Cpathogenic177706151(-) CAAAAG/TAATGG 4 E * stg10--------
    rs1219089041,2
    Cpathogenic177719144(-) GCAGCG/TTATTG 4 R L mis10--------
    rs1219089061,2
    Cpathogenic177731193(-) GTGAAC/TGAGTT 4 R * stg10--------
    rs1939209741,2
    Cuntested177731192(-) TGAACA/GAGTTC 4 Q R mis10--------
    rs797890021,2
    C,F--72571891(-) TAGATG/ACAGGA 2 -- int14Minor allele frequency- A:0.25WA NA 8
    rs47037501,2
    C--72599936(+) gaggtG/Aggggg 2 -- int12Minor allele frequency- A:0.00NA 4
    rs1887019011,2
    --72654511(+) CTTCCC/TCTCCC 2 -- int10--------
    rs1439651181,2
    C--72666043(+) GTGTG-/TATATAT 2 -- int10--------
    rs635610611,2
    --72745182(+) TTTTTA/TAAGAC 2 -- int10--------

    HapMap Linkage Disequilibrium report for AP3B1 (77296349 - 77546349 bp, first 250kb of AP3B1)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AP3B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730333CNV Deletion23290073
    esv2666996CNV Deletion23128226
    esv1469212CNV Deletion17803354
    esv4975CNV Deletion18987735
    nsv328833CNV Loss16902084
    nsv882213CNV Loss21882294

    Human Gene Mutation Database (HGMD): AP3B1
    Locus Specific Mutation Databases (LSDB): AP3B1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP3B1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP3B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603401   
    OMIM disorders: 608233  
    UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203
  • Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A form of Hermansky-Pudlak syndrome, a genetically
    heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet
    storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic
    organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is
    associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from
    the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an
    increased susceptibility to infections. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for AP3B1 (see all 23):    
    About MalaCards
    hermansky pudlak syndrome 2    hermansky-pudlak syndrome 1    hermansky-pudlak syndrome    platelet storage pool deficiency
    chediak-higashi syndrome    oculocutaneous albinism    albinism    hemophagocytic lymphohistiocytosis
    night blindness    blindness    neutropenia    was-related disorders
    pulmonary fibrosis    crohn's disease    myocardial infarction    coronary artery disease
    insulin resistance    atherosclerosis    schizophrenia    hiv-1

    4 diseases from the University of Copenhagen DISEASES database for AP3B1:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency     Neutropenia

    AP3B1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for AP3B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hermansky-pudlak syndrome 96.7 8 11861280 (1), 16550546 (1), 9931340 (1), 15675963 (1) (see all 8)
    albinism oculocutaneous 94.7 5 16550546 (2), 19523149 (1), 9579545 (1)
    bleeding 44 3 16550546 (1), 19523149 (1), 9579545 (1)

    GeneTests: AP3B1
    GeneReviews: AP3B1
    Genetic Association Database (GAD): AP3B1
    Human Genome Epidemiology (HuGE) Navigator: AP3B1 (9 documents)

    Export disorders for AP3B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP3B1 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with AP3B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. (PubMed id 9182526)1, 2, 3, 9 Dell'Angelica E.C.... Bonifacino J.S. (J. Biol. Chem. 1997)
    2. Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2, 3 Simpson F.... Robinson M.S. (J. Cell Biol. 1997)
    3. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4, 9 Fernandez L.P....Ribas G. (Exp. Dermatol. 2009)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Association analysis between schizophrenia and the AP-3 complex genes. (PubMed id 19481122)1, 4 Hashimoto R....Kunugi H. (Neurosci. Res. 2009)
    7. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4 Luke M.M....Psaty B.M. ( a journal of cerebral circulation 2009)
    8. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PubMed id 17975119)1, 4 Shiffman D....Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008)
    9. A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease. (PubMed id 17569884)1, 4 Luke M.M....Ellis S.G. (Arterioscler. Thromb. Vasc. Biol. 2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8546 HGNC: 566 AceView: AP3B1 Ensembl:ENSG00000132842 euGenes: HUgn8546
    ECgene: AP3B1 Kegg: 8546 H-InvDB: AP3B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP3B1 Pharmacogenomics, SNPs, Pathways
    AP3B1basehttp://bioinf.uta.fi/AP3B1base/
    Mutations of the ADTB3A genehttp://www.retina-international.org/files/sci-news/adtb3mut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/hps2mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AP3B1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP3B1 gene:
    Search GeneIP for patents involving AP3B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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