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

AP1M1 Gene

protein-coding   GIFtS: 61
GCID: GC19P016308

Adaptor-Related Protein Complex 1, Mu 1 Subunit

Microbiology & Infectious Diseases Congress
  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 1, Mu 1 Subunit1 2     CLAPM22 5
Adaptor Protein Complex AP-1 Mu-1 Subunit2 3     MU-1A2
Adaptor-Related Protein Complex 1 Mu-1 Subunit2 3     AP-1 Complex Subunit Mu-12
Clathrin Assembly Protein Complex 1 Medium Chain 12 3     Clathrin Adaptor Protein AP472
Clathrin Coat Assembly Protein AP472 3     Clathrin Assembly Protein Complex 1, Medium Chain2
Clathrin Coat-Associated Protein AP472 3     Clathrin Assembly Protein Complex AP1, Mu Subunit2
Golgi Adaptor HA1/AP1 Adaptin Mu-1 Subunit2 3     Golgi Adaptor AP-1 47 KDa Protein2
Mu-Adaptin 12 3     HA1 47 KDa Subunit2
CLTNM2 3     mu1A-adaptin2
AP-Mu Chain Family Member Mu1A2 3     Mu1A-adaptin3
AP472 5     

External Ids:    HGNC: 136671   Entrez Gene: 89072   Ensembl: ENSG000000729587   OMIM: 6035355   UniProtKB: Q9BXS53   

Export aliases for AP1M1 gene to outside databases

Previous GC identifers: GC19M016771 GC19P016702 GC19P016153 GC19P016169 GC19P015879


(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 AP1M1 Gene:
The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein
complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain
AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These
vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding
distinct protein isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for AP1M1 Gene: 
AP1M1 (adaptor-related protein complex 1, mu 1 subunit) is a protein-coding gene. Diseases associated with AP1M1 include renal tubular acidosis, and hiv type 1, and among its related super-pathways are Clathrin-dependent protein traffic and Clathrin derived vesicle budding. GO annotations related to this gene include protein binding. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot: AP1M1_HUMAN, Q9BXS5
Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and
the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

Gene Wiki entry for AP1M1 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_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AP1M1 gene promoter:
         RFX1   p53   AML1a   HOXA5   POU3F1   ZIC2/Zic2   LUN-1   POU3F2   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP1M1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP1M1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP1M1


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.12

AP1M1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1M1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P016308:  view genomic region     (about GC identifiers)

Start:
16,308,389 bp from pter      End:
16,346,160 bp from pter
Size:
37,772 bases      Orientation:
plus 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: AP1M1_HUMAN, Q9BXS5 (See protein sequence)
Recommended Name: AP-1 complex subunit mu-1  
Size: 423 amino acids; 48587 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). Interacts with MARCH11 (By similarity). Interacts with HIV-1 Nef.
Associates with the AP1(MU)-Nef-MHC-I complex; this complex is required for MHC-I internalization
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
Secondary accessions: Q4TTY5
Alternative splicing: 2 isoforms:  Q9BXS5-1   Q9BXS5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP1M1: NX_Q9BXS5

Explore proteomics data for AP1M1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXS5

  • AP1M1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1M1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123996.1  NP_115882.1  

    ENSEMBL proteins: 
     ENSP00000291439   ENSP00000466858   ENSP00000465224   ENSP00000411498   ENSP00000388996  
     ENSP00000468140   ENSP00000467721   ENSP00000467417   ENSP00000468015   ENSP00000445682  
    Reactome Protein details: Q9BXS5
    Human Recombinant Protein Products for AP1M1: 
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    Novus Biologicals AP1M1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0030131clathrin adaptor complex IEA--
    GO:0030659cytoplasmic vesicle membrane TAS--

    AP1M1 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:
     IPR018240 Clathrin_mu_CS
     IPR001392 Clathrin_mu
     IPR008968 Clathrin_mu_C
     IPR022775 AP_mu_sigma_su
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXS5

    ProtoNet protein and cluster: Q9BXS5

    1 Blocks protein domain: IPB001392 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP1M1_HUMAN, Q9BXS5
    Similarity: Belongs to the adaptor complexes medium subunit family
    Similarity: Contains 1 MHD (mu homology) domain


    AP1M1 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: AP1M1_HUMAN, Q9BXS5
    Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
    trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and
    the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14691137
         
    AP1M1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AP1M1:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap1m1):
     cardiovascular system  mortality/aging 

    AP1M1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ap1m1tm1Schu for AP1M1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AP1M1 
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    SwitchGear 3'UTR luciferase reporter plasmidAP1M1 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 AP1M1 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 AP1M1
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AP1M1
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1M1
        Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for AP1M1
        E-cadherin signaling in the nascent adherens junction

    5/14        Reactome Pathways for AP1M1 (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 AP1M1):
        Lysosome


    AP1M1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1M1

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

    5/159 Interacting proteins for AP1M1 (Q9BXS51, 2, 3 ENSP000003889964) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0016032viral process TAS--
    GO:0016192vesicle-mediated transport ----

    AP1M1 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 AP1M1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

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    Search CenterWatch for drugs/clinical trials and news about AP1M1

    (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 AP1M1 gene (2 alternative transcripts): 
    NM_001130524.1  NM_032493.3  

    Unigene Cluster for AP1M1:

    Adaptor-related protein complex 1, mu 1 subunit
    Hs.71040  [show with all ESTs]
    Unigene Representative Sequence: NM_001130524
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291439(uc002ndu.2 uc010xpd.1) ENST00000590263 ENST00000590756
    ENST00000429941 ENST00000589991 ENST00000444449(uc002ndv.2) ENST00000589822
    ENST00000590945 ENST00000591775 ENST00000586957 ENST00000589782 ENST00000591966
    ENST00000586461 ENST00000586543 ENST00000592703 ENST00000541844
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1M1 (see all 15):
    hsa-miR-520e hsa-miR-302d hsa-miR-4300 hsa-miR-196a* hsa-miR-302a hsa-miR-302e hsa-miR-373 hsa-miR-920
    SwitchGear 3'UTR luciferase reporter plasmidAP1M1 3' UTR sequence
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    Additional mRNA sequence: 

    AB209808.1 AF290613.1 AK027528.1 AK293188.1 AK297824.1 BC017469.2 DQ059565.1 

    19 DOTS entries:

    DT.448197  DT.100811948  DT.95267177  DT.100811941  DT.100680978  DT.100811949  DT.97855601  DT.97855597 
    DT.100657724  DT.100701761  DT.100717931  DT.100840990  DT.101976155  DT.121498201  DT.121498205  DT.121498236 
    DT.91693054  DT.92442991  DT.427126 

    24/462 AceView cDNA sequences (see all 462):

    BU145321 CD723579 BG059802 BI261804 BQ056872 BM552924 AI570705 AK027528 
    CR619890 BM695039 BQ063889 BQ677857 CD723593 AW083608 BQ652769 AA305197 
    BI871355 AW090711 BQ643261 BG222879 BQ059327 AA995577 BM927338 AI015767 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AP1M1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for AP1M1

    (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

    AP1M1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCACCCAC
    AP1M1 Expression
    About this image


    See AP1M1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1M1

    SOURCE GeneReport for Unigene cluster: Hs.71040
        SABiosciences Custom PCR Arrays for AP1M1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1M1

    (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 AP1M1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1m11 , 5 adaptor-related protein complex AP-1, mu subunit 11, 5 89.2(n)1
    99.29(a)1
      8 (34.92 cM)5
    117671  NM_007456.41  NP_031482.11 
     722400185 
    chicken
    (Gallus gallus)
    Aves AP1M11 adaptor-related protein complex 1, mu 1 subunit 79.2(n)
    99.76(a)
      420149  NM_001007886.1  NP_001007887.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP1M16
    Uncharacterized protein
    95(a)
    1 ↔ 1
    AAWZ02038146(789-12830)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74492 Xenopus laevis transcribed sequence with strong similarity more 77.06(n)    CD300993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap1m31 adaptor-related protein complex 1, mu 3 subunit 72.51(n)
    79.15(a)
      445244  NM_001114441.1  NP_001107913.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-471 , 3 non-selective vesicle coating3
    AP-471
    82(a)3
    75.93(n)1
    83.85(a)1
      85D243
    411501  NM_141649.11  NP_649906.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1011 , 3 clathrin coat assembly protein3
    Protein UNC-1011
    75(a)
    (best of 2)3
    65.79(n)1
    75.48(a)1
      I(12516608-12520954)3
    1731211  NM_001047210.11  NP_001040675.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APM1(YPL259C)4
    APM11
    Mu1-like medium subunit of the clathrin-associated more4
    Apm1p1
    53.91(n)1
    58.13(a)1
      16(52671-51244)4
    8558691, 4  NP_015064.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HAP131 AP-1 complex subunit mu 59.03(n)
    61.81(a)
      842372  NM_104761.3  NP_176277.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07036001 hypothetical protein 60.38(n)
    62.29(a)
      4324247  NM_001050536.1  NP_001044001.1 


    ENSEMBL Gene Tree for AP1M1 (if available)
    TreeFam Gene Tree for AP1M1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AP1M1 gene
    AP3M12  AP4M12  AP1M22  AP3M22  AP2M12  
    7 SIMAP similar genes for AP1M1 using alignment to 9 protein entries:     AP1M1_HUMAN (see all proteins):
    AP1M2    AP2M1    AP3M2    DKFZp686E11263    AP3M1    DKFZp586G1518
    AP4M1

    AP1M1 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

    10/909 SNPs in AP1M1 are shown (see all 909)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365364
    A breast cancer sample4--see VAR_0365362 R Q mis40--------
    rs559061661,2
    C--16306684(+) TGAGCC/TGAGAT 2 -- us2k10--------
    rs1388303711,2
    --16306729(+) GACTCC/TGTCTC 2 -- us2k10--------
    rs583715821,2
    C,F--16306747(+) AAATTT/AAAAAA 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs3715182301,2
    C--16306747(+) AAAAT-/AAAAA 
            
    AAAAA
    2 -- us2k10--------
    rs590841311,2
    C,F--16306810(+) CTATAC/TATGGC 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs583619231,2
    C,F--16306811(+) TATACA/GTGGCT 2 -- us2k12Minor allele frequency- G:0.04WA 120
    rs675058431,2
    C,F--16306846(+) TGTGTG/ATTGTA 2 -- us2k15Minor allele frequency- A:0.19WA NA EA 362
    rs1436959431,2
    --16306928(+) CACAGC/TCCAAT 2 -- us2k10--------
    rs1871384391,2
    --16307201(+) TCCAGA/GTGCTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP1M1 (16308389 - 16346160 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AP1M1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833767CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AP1M1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP1M1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603535    OMIM disorders: --

    4 diseases for AP1M1:    About MalaCards
    renal tubular acidosis    hiv type 1    kaposi's sarcoma    sarcoma

    1 disease from the University of Copenhagen DISEASES database for AP1M1:
    Renal tubular acidosis

    AP1M1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AP1M1

    Export disorders for AP1M1 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 AP1M1 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with AP1M1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AP-1 membrane-cytoplasm recycling regulated by mu1A-adaptin. (PubMed id 17988225)1, 3 Medigeshi G.R....Schu P. (2008)
    2. The tyrosine binding pocket in the adaptor protein 1 (AP-1) mu1 subunit is necessary for Nef to recruit AP-1 to the major histocompatibility complex class I cytoplasmic tail. (PubMed id 18073204)1, 2 Wonderlich E.R....Collins K.L. (2008)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG). (PubMed id 9653655)1, 3 Peyrard M.... Dumanski J.P. (1998)
    5. Adaptor protein 1 promotes cross-presentation through the same tyrosine signal in major histocompatibility complex class I as that tar geted by HIV-1. (PubMed id 23678182)1 Kulpa D.A....Collins K.L. (2013)
    6. The AP-1 complex regulates intracellular localization of insulin receptor substrate 1, which is required for insulin-like growth facto r I-dependent cell proliferation. (PubMed id 23478262)1 Yoneyama Y....Takahashi S. (2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 8907 HGNC: 13667 AceView: AP1M1 Ensembl:ENSG00000072958 euGenes: HUgn8907
    ECgene: AP1M1 Kegg: 8907 H-InvDB: AP1M1

    (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 AP1M1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AP1M1 gene:
    Search GeneIP for patents involving AP1M1

    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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