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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Golgi Associated Vesicle Biogenesis and Translocation of GLUT4 to the Plasma Membrane. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP3B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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)
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:

  • UniProtKB: Phosphorylated on serine residues
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00203

  • AP3B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP3B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258698.1  NP_003655.3  

    ENSEMBL proteins: 
     ENSP00000255194   ENSP00000430597   ENSP00000429228  
    Reactome Protein details: O00203
    Human Recombinant Protein Products for AP3B1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Phenotypes:
         15/18 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 - Custom generated mouse model solutions for AP3B1 
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    miRTarBase miRNAs that target AP3B1:
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    SwitchGear 3'UTR luciferase reporter plasmidAP3B1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    2Membrane Trafficking
    Membrane Trafficking0.32
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for AP3B1
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding


    1         Kegg Pathway  (Kegg details for AP3B1):
        Lysosome


    AP3B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP3B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/604 Interacting proteins for AP3B1 (O002032, 3 ENSP000002551944) via UniProtKB, MINT, STRING, and/or I2D (see all 604)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006622protein targeting to lysosome IEA--
    GO:0006886intracellular protein transport TAS9931340
    GO:0006897endocytosis IEA--
    GO:0007596blood coagulation IEA--
    GO:0008089anterograde axon cargo transport ISS--

    AP3B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/218 AceView cDNA sequences (see all 218):

    BC020230 BP346615 U81504 T06080 CB161856 AW204324 BU618596 BQ945055 
    BU429141 AW504062 AU143490 AI364449 AW593188 AI762206 CD557743 BQ773406 
    CB164651 BI859966 CA448588 BU730039 AL708147 BM991578 BI834967 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AP3B1 expression in normal human tissues (normalized intensities)      AP3B1 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad

    See AP3B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP3B1

    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AP3B1 gene from 8/17 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 86.07(n)1
    89.23(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 78.71(n)
    83.13(a)
      427646  XM_003642955.1  XP_003643003.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP3B16
    adaptor-related protein complex 3, beta 1 subunit
    78(a)
    1 ↔ 1
    2(13375588-13558293)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ071341.12   -- 75.28(n)    BJ071341.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU929160.16
    AP3B1 (2 of 2)6
    adaptor-related protein complex 3, beta 1 subunit
    70(a)
    61(a)
    many → 1
    many → 1
    11(38410181-38437594)
    7(29269898-29377078)
    fruit fly
    (Drosophila melanogaster)
    Insecta rb3 ommochrome biosynthesis 47(a)   1 4C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea apb-36
    Protein APB-3, isoform a
    40(a)
    1 → many
    I(7853748-7857834)
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5594 SNPs in AP3B1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for AP3B1:    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    was-related disorders    neutropenia
    pulmonary fibrosis    crohn's disease    myocardial infarction    schizophrenia
    melanoma

    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)
    About This Section

    PubMed articles for AP3B1 gene, integrated from 9 sources (see all 80):
    (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. (1997)
    2. Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2, 3 Simpson F.... Robinson M.S. (1997)
    3. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4, 9 Fernandez L.P....Ribas G. (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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Association analysis between schizophrenia and the AP -3 complex genes. (PubMed id 19481122)1, 4 Hashimoto R....Kunugi H. (2009)
    7. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4 Luke M.M....Psaty B.M. (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. (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. (2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8546 HGNC: 566 AceView: AP3B1 Ensembl:ENSG00000132842 euGenes: HUgn8546
    ECgene: AP3B1 Kegg: 8546 H-InvDB: AP3B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/AP3B1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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