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AP1B1 Gene

protein-coding   GIFtS: 63
GCID: GC22M029723

Adaptor-Related Protein Complex 1, Beta 1 Subunit


(Previous symbols: ADTB1, CLAPB2)
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(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 1, Beta 1 Subunit1 2     Golgi Adaptor HA1/AP1 Adaptin Beta Subunit2 3
ADTB11 2 3 5     AP105A2
CLAPB21 2 3 5     AP-1 Complex Subunit Beta-12
BAM222 3 5     beta-1-adaptin2
Adapter-Related Protein Complex 1 Subunit Beta-12 3     beta-prime-adaptin2
Adaptor Protein Complex AP-1 Subunit Beta-12 3     beta1-adaptin2
Beta-Adaptin 12 3     Plasma Membrane Adaptor HA2/AP2 Adaptor Beta Subunit2
Clathrin Assembly Protein Complex 1 Beta Large Chain2 3     Beta-1-adaptin3

External Ids:    HGNC: 5541   Entrez Gene: 1622   Ensembl: ENSG000001002807   OMIM: 6001575   UniProtKB: Q105673   

Export aliases for AP1B1 gene to outside databases

Previous GC identifers: GC22M026419 GC22M028048 GC22M012687


(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 AP1B1 Gene:
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where
it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the
cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium,
and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this
complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Oct 2009)

GeneCards Summary for AP1B1 Gene:
AP1B1 (adaptor-related protein complex 1, beta 1 subunit) is a protein-coding gene. Diseases associated with AP1B1 include meningioma, and neurofibromatosis. GO annotations related to this gene include protein transporter activity and transporter activity. An important paralog of this gene is AP2B1.

UniProtKB/Swiss-Prot: AP1B1_HUMAN, Q10567
Function: Subunit of clathrin-associated adaptor protein complex 1 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

Gene Wiki entry for AP1B1 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_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP1B1 gene promoter:
         Sox5   AML1a   SREBP-1c   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   POU3F2   SREBP-1b   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP1B1 promoter sequence
   Search Chromatin IP Primers for AP1B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP1B1


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

AP1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1B1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M029723:  view genomic region     (about GC identifiers)

Start:
29,723,669 bp from pter      End:
29,819,168 bp from pter
Size:
95,500 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AP1B1_HUMAN, Q10567 (See protein sequence)
Recommended Name: AP-1 complex subunit beta-1  
Size: 949 amino acids; 104637 Da
Subunit: Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit
AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin
(sigma-type subunit AP1S1 or AP1S2 or AP1S3)
1 PDB 3D structure from and Proteopedia for AP1B1:
4HMY (3D)    
Secondary accessions: C9JRD1 F8WDL0 P78436 Q20WL3 Q86X54
Alternative splicing: 4 isoforms:  Q10567-1   Q10567-2   Q10567-3   Q10567-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP1B1: NX_Q10567

Explore proteomics data for AP1B1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys887
  • Modification sites at PhosphoSitePlus

  • See AP1B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001118.3  NP_001159491.1  NP_663782.2  

    ENSEMBL proteins: 
     ENSP00000384194   ENSP00000319361   ENSP00000386071   ENSP00000400022   ENSP00000392735  
     ENSP00000387612   ENSP00000350199   ENSP00000348297   ENSP00000400065  
    Reactome Protein details: Q10567

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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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    Selected InterPro protein domains (see all 11):
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR013037 Clathrin_b-adaptin_app_Ig-like
     IPR015151 B-adaptin_app_sub_C
     IPR012295 Beta2_adaptin/TBP_C_dom

    Graphical View of Domain Structure for InterPro Entry Q10567

    ProtoNet protein and cluster: Q10567

    4 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB002553 Adaptin
    IPB003016 2-oxo acid dehydrogenase
    IPB008152 Alpha/gamma adaptin


    UniProtKB/Swiss-Prot: AP1B1_HUMAN, Q10567
    Similarity: Belongs to the adaptor complexes large subunit family


    AP1B1 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: AP1B1_HUMAN, Q10567
    Function: Subunit of clathrin-associated adaptor protein complex 1 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7987321
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0008565protein transporter activity IEA--
         
    AP1B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ap1b1 (no phenotypes)

    AP1B1 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-miR-30c hsa-miR-34b* hsa-miR-30d hsa-miR-133b hsa-miR-3647-3p hsa-miR-30a hsa-miR-656 hsa-miR-338-5p
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    (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
    AP1B1_HUMAN, Q10567: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane
    protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located
    at the Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    lysosome4
    vacuole4
    plasma membrane2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0030117membrane coat ----
    GO:0030131clathrin adaptor complex IEA--

    AP1B1 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 AP1B1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    3Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef mediated downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    4HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AP1B1
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1B1
        Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for AP1B1
        FOXA1 transcription factor network


    4 Reactome Pathways for AP1B1
        Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis
    Nef mediated downregulation of MHC class I complex cell surface expression
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for AP1B1):
        Lysosome


    AP1B1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP1B1
    Interactions:

        Search GeneGlobe Interaction Network for AP1B1

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

    Selected Interacting proteins for AP1B1 (Q105671, 2, 3 ENSP000003501994) via UniProtKB, MINT, STRING, and/or I2D (see all 905)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUB1O436832, 3, ENSP000003025304MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000302530
    PRKDCP785272, 3, ENSP000003134204MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000313420
    ARF5P840852, 3, ENSP000000002334MINT-7945693 I2D: score=2 STRING: ENSP00000000233
    BUB1BO605662, 3, ENSP000002875984MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000287598
    HSPA8P111422, ENSP000002273784MINT-7945693 MINT-7947479 STRING: ENSP00000227378
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0015031protein transport ----
    GO:0016032viral process TAS--
    GO:0016192vesicle-mediated transport ----

    AP1B1 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
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    Browse Tocris compounds for AP1B1



    (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,
    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 AP1B1 gene (3 alternative transcripts): 
    NM_001127.3  NM_001166019.1  NM_145730.2  

    Unigene Cluster for AP1B1:

    Adaptor-related protein complex 1, beta 1 subunit
    Hs.368794  [show with all ESTs]
    Unigene Representative Sequence: NM_001127
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482818(uc003afh.3) ENST00000405198 ENST00000317368 ENST00000402502
    ENST00000472057 ENST00000421126 ENST00000415756 ENST00000473606 ENST00000415447
    ENST00000357586(uc011ako.2 uc003afj.3) ENST00000356015 ENST00000432560(uc003afl.3 uc003afi.3)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-30c hsa-miR-34b* hsa-miR-30d hsa-miR-133b hsa-miR-3647-3p hsa-miR-30a hsa-miR-656 hsa-miR-338-5p
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    Additional mRNA sequence: 

    AK294406.1 AK296567.1 AK299613.1 BC046242.1 BX537680.1 CT841508.1 L13939.1 

    11 DOTS entries:

    DT.100784203  DT.100694559  DT.100784204  DT.111326  DT.95253591  DT.100724412  DT.99994320  DT.101956364 
    DT.120663178  DT.95274485  DT.120663191 

    Selected AceView cDNA sequences (see all 91):

    AW162402 BM783046 BF808243 NM_145730 BX385028 AI084003 BX325392 CD244097 
    BM661552 BF808247 BE253600 BM909530 CK429947 BX385029 BE856022 BC046242 
    BU158849 AI922129 H55678 CR626722 AA367943 BM677732 NM_001127 AW005985 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AP1B1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ^
    SP1:              -                       -                                                                             -           -           -               
    SP2:                                      -                                                                                                                     
    SP3:                                                                                                                                -                           
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                            -               

    ExUns: 20 ^ 21 ^ 22a · 22b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for AP1B1

    (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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    AP1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAAGACCA
    AP1B1 Expression
    About this image

    AP1B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP1B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368794

    UniProtKB/Swiss-Prot: AP1B1_HUMAN, Q10567
    Tissue specificity: Widely expressed

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    In Situ
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    (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 eukaryotes.

    Orthologs for AP1B1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1b11 , 5 adaptor protein complex AP-1, beta 1 subunit1, 5 89.36(n)1
    96.72(a)1
      11 (3.15 cM)5
    117641  NM_001243044.11  NP_001229973.11 
     49868245 
    chicken
    (Gallus gallus)
    Aves AP1B11 adaptor-related protein complex 1, beta 1 subunit 86.6(n)
    95.25(a)
      417021  XM_004934468.1  XP_004934525.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP1B16
    adaptor-related protein complex 1, beta 1 subunit
    94(a)
    1 ↔ 1
    GL343417.1(70279-86314)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ap1b11 adaptor-related protein complex 1, beta 1 subunit 76.02(n)
    90.04(a)
      100158536  NM_001127972.1  NP_001121444.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa16e072 wufa16e07 77.05(n)   334632  BC049138.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap1 , 3 non-selective vesicle coating3
    Beta Adaptin1
    72(a)3
    72.96(n)1
    76.88(a)1
      329871  NM_078691.31  NP_523415.11 
    worm
    (Caenorhabditis elegans)
    Secernentea apb-11 apb-1 61.8(n)
    67.38(a)
      175376  NM_001027766.3  NP_001022937.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL26
    Beta-adaptin, large subunit of the clathrin-associ...
    37(a)
    1 → many
    XI(186460-188640) YKL135C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G234601 AT4G23460 59.51(n)
    63.28(a)
      828445  NM_118475.3  NP_194077.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03556001 Os03g0355600 59.18(n)
    61.17(a)
      4332864  NM_001056670.1  NP_001050135.1 


    ENSEMBL Gene Tree for AP1B1 (if available)
    TreeFam Gene Tree for AP1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP1B1 gene
    AP2B12  AP4B12  
    4 SIMAP similar genes for AP1B1 using alignment to 3 protein entries:     AP1B1_HUMAN (see all proteins):
    AP2B1    DKFZp781K0743    AP4B1    AP3B1

    AP1B1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AP1B1
    PGOHUM00000246567


    (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)
    About This Section

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    Selected SNPs for AP1B1 (see all 1308)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875413961,2
    --29723343(+) CAGGGG/TATCTC 3 -- ds50010--------
    rs1469026091,2
    --29723557(+) TGCCAC/TGGGAG 3 -- ds50010--------
    rs1932732121,2
    --29723585(+) ACCACC/TGGAGC 3 -- ds50010--------
    rs757098481,2
    C,F--29723641(+) GCCTCG/AGGCCT 3 -- ds50012Minor allele frequency- A:0.07WA NA 238
    rs1479432441,2
    --29723819(+) CATTCA/GGTGGA 3 -- ut310--------
    rs776977681,2
    C,F--29724002(+) TTACCC/TAGCCC 3 -- ut311Minor allele frequency- T:0.02WA 118
    rs1850235951,2
    --29724016(+) CTCTCA/GGCCCA 3 -- ut310--------
    rs1901680141,2
    --29724082(+) CAGTGA/GCCACC 3 -- ut310--------
    rs1163289121,2
    C,F--29724187(+) ATGTGG/AGTCAG 3 -- ut311Minor allele frequency- A:0.08WA 118
    rs1417320101,2
    --29724189(+) GTGGGC/TCAGCA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for AP1B1 (29723669 - 29819168 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AP1B1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724124CNV Deletion23290073
    esv2724125CNV Deletion23290073
    esv2580719CNV Deletion19546169
    nsv821257CNV Duplication20802225
    nsv436866CNV Insertion17901297
    nsv834171CNV Loss17160897
    dgv759n67CNV Loss20364138
    nsv829155CNV Loss20364138
    esv23708CNV Loss19812545
    nsv829154CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP1B1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP1B1

    (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.)
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    OMIM gene information: 600157    OMIM disorders: --

    9 diseases for AP1B1:    About MalaCards
    meningioma    neurofibromatosis    kaposi's sarcoma    hiv-1
    sarcoma    hepatitis c    atherosclerosis    hepatitis
    prostatitis


    AP1B1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for AP1B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    meningioma 63.7 6 7987321 (3), 9271666 (1), 8812422 (1)
    tumors 0 3 7987321 (2), 9271666 (1)

    Genetic Association Database (GAD): AP1B1
    Human Genome Epidemiology (HuGE) Navigator: AP1B1 (1 document)

    Export disorders for AP1B1 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 AP1B1 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with AP1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12. (PubMed id 8812422)1, 2, 3, 9 Peyrard M.... Dumanski J.P. (Genomics 1996)
    2. Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. (PubMed id 7987321)1, 2, 3, 9 Peyrard M.... Dumanski J.P. (Hum. Mol. Genet. 1994)
    3. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PubMed id 20009918)1, 4 Shrestha S....Grunfeld C. (AIDS 2010)
    4. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (Biochem. Biophys. Res. Commun. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. A novel motor, KIF13A, transports mannose-6-phosphate receptor to plasma membrane through direct interaction with AP-1 complex. (PubMed id 11106728)1, 9 Nakagawa T....Hirokawa N. (Cell 2000)
    7. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    8. Basolateral EGF receptor sorting regulated by functionally distinct mechanisms in renal epithelial cells. (PubMed id 23205726)1 Cotton C.U....Carlin C.R. (Traffic 2013)
    9. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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)
    About This Section

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    Entrez Gene: 162 HGNC: 554 AceView: AP1B1 Ensembl:ENSG00000100280 euGenes: HUgn162
    ECgene: AP1B1 Kegg: 162 H-InvDB: AP1B1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for AP1B1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AP1B1 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for AP1B1 gene:
    Search GeneIP for patents involving AP1B1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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