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

AP1B1 Gene

protein-coding   GIFtS: 62
GCID: GC22M029723

Adaptor-Related Protein Complex 1, Beta 1 Subunit


(Previous symbols: ADTB1, CLAPB2)
Microbiology & Infectious Diseases Congress
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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)
About This Section

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

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, and among its related super-pathways are Clathrin-dependent protein traffic and Clathrin derived vesicle budding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q10567

  • AP1B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1B1 Protein Expression
    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
    Human Recombinant Protein Products for AP1B1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR008152 Clathrin_a/b/g-adaptin_app_Ig
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR013037 Clathrin_b-adaptin_app_Ig-like
     IPR015151 B-adaptin_app_sub_C

    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,
    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: 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 (GO ID links to tree view):    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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    (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 AP1B1 About   (see all 11)                                                                                              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
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    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 adapters0.75
    Nef mediated downregulation of MHC class I complex cell surface expression0.48
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AP1B1
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/14        Reactome Pathways for AP1B1 (see all 14)
        Membrane Trafficking
    Clathrin derived vesicle budding
    trans-Golgi Network Vesicle Budding
    Adaptive Immune System
    Lysosome Vesicle Biogenesis


    1         Kegg Pathway  (Kegg details for AP1B1):
        Lysosome


    AP1B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1B1

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

    5/871 Interacting proteins for AP1B1 (Q105672, 3 ENSP000003501994) via UniProtKB, MINT, STRING, and/or I2D (see all 871)
    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
    DNM2P505702, ENSP000003527214MINT-7945693 MINT-7947479 STRING: ENSP00000352721
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis IEA--
    GO:0015031protein transport ----
    GO:0016032viral process TAS--

    AP1B1 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
    EMD Millipore small molecules for AP1B1:
    Small Molecule - inhibitor
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    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    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 

    24/91 AceView cDNA sequences (see all 91):

    BX325392 AA367943 NM_145730 BM783046 BC046242 BE253600 BF808247 CD244097 
    NM_001127 BM661552 AW162402 CR626722 AI084003 BM677732 BF808243 CK429947 
    BX385028 BX385029 BU158849 AI922129 BE856022 H55678 BM909530 BX389342 

    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™, 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

    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


    See AP1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1B1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP1B1 gene from 9/22 species (see all 22)    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 90.09(n)1
    97.26(a)1
      11 (3.15 cM)5
    117641  NM_001243043.11  NP_001229972.11 
     49868245 
    chicken
    (Gallus gallus)
    Aves AP1B11 adaptor-related protein complex 1, beta 1 subunit 86.64(n)
    95.25(a)
      417021  XM_415311.3  XP_415311.3 
    lizard
    (Anolis carolinensis)
    Reptilia AP1B16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    GL343417.1(70279-86314)
    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
    73.03(n)1
    76.88(a)1
      329871  NM_078691.21  NP_523415.11 
    worm
    (Caenorhabditis elegans)
    Secernentea apb-11 Protein APB-1 61.6(n)
    66.92(a)
      175376  NM_001027766.2  NP_001022937.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL26
    Beta-adaptin, large subunit of the clathrin-associ...
    36(a)
    1 → many
    XI(186460-188640)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G234601 beta-adaptin-like protein C 59.47(n)
    63.28(a)
      828445  NM_118475.3  NP_194077.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03556001 hypothetical protein 58.87(n)
    61.3(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)
    About This Section
    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) 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

    10/1308 SNPs in AP1B1 are shown (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
    ----------
    VAR_0628164
    ----see VAR_0628162 T A mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 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

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    (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: 600157    OMIM disorders: --

    7 diseases for AP1B1:    About MalaCards
    meningioma    neurofibromatosis    hiv type 1    kaposi's sarcoma
    sarcoma    hepatitis c    hepatitis


    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)
    About This Section

    PubMed articles for AP1B1 gene, integrated from 9 sources (see all 74):
    (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. (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. (1994)
    3. A genome-wide association study of carotid atheroscle rosis in HIV-infected men. (PubMed id 20009918)1, 4 Shrestha S....Grunfeld C. (2010)
    4. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (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. (2000)
    7. Basolateral EGF receptor sorting regulated by function ally distinct mechanisms in renal epithelial cells. (PubMed id 23205726)1 Cotton C.U....Carlin C.R. (2013)
    8. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

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

    (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 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
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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