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

AP5M1 Gene

protein-coding   GIFtS: 39
GCID: GC14P057737

adaptor-related protein complex 5, mu 1 subunit

(Previous names: chromosome 14 open reading frame 108, MU-2/AP1M2 domain...)
(Previous symbols: C14orf108, MUDENG)
  Search for AP5M1
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Biological research products
for AP5M1    

Aliases
for AP5M1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adaptor-Related Protein Complex 5, Mu 1 Subunit1 2     Mu52 3
C14orf1081 2 3     FLJ108131
MUDENG1 2 3     Chromosome 14 Open Reading Frame 1081
MuD1 2 3     Mu52 3
MU-2/AP1M2 Domain Containing, Death-Inducing1 2     AP-5 Complex Subunit Mu2
Adapter-Related Protein Complex 5 Mu Subunit2 3     AP-5 Complex Subunit Mu-12
Mu-2-Related Death-Inducing Protein2 3     MHD Domain-Containing Death-Inducing Protein2
Putative HIV-1 Infection-Related Protein2 3     Mu-2 Related Death-Inducing2

External Ids:    HGNC: 201921   Entrez Gene: 557452   Ensembl: ENSG000000537707   OMIM: 6143685   UniProtKB: Q9H0R13   
ORGUL members:         
NONCODE:n407438    

Export aliases for AP5M1 gene to outside databases


Summaries
for AP5M1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: AP5M1_HUMAN, Q9H0R1
Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport.
According to PubMed:18395520, it may play a role in cell death




Genomic Views
for AP5M1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AP5M1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AP5M1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP5M1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP5M1


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

Entrez Gene cytogenetic band: 14q22.3   Ensembl cytogenetic band:  14q22.3   HGNC cytogenetic band: 14q22.2

AP5M1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP5M1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P057737:  view genomic region     (about GC identifiers)

Start:
 57,735,606 bp from pter      End:
 57,756,797 bp from pter
Size:
 21,192 bases      Orientation:
 plus strand

Proteins
for AP5M1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AP5M1_HUMAN, Q9H0R1 (See protein sequence)
Recommended Name: AP-5 complex subunit mu-1  
Size: 490 amino acids; 54767 Da
Subunit: Probably part of the adapter protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1
Subcellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side
(Probable). Lysosome membrane; Peripheral membrane protein; Cytoplasmic side (Probable). Note=May cycle on and off
membranes
Sequence caution: Sequence=BAD18791.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAD18791.1; Type=Frameshift; Positions=482;
Secondary accessions: O95354 Q6ZMD7 Q96DX3 Q9NVC5
Alternative splicing: 2 isoforms:  Q9H0R1-1   Q9H0R1-2   (May be due to an intron retention)

Explore the universe of human proteins at neXtProt for AP5M1: NX_Q9H0R1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H0R1

    • AP5M1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060699.3  
    ENSEMBL proteins: 
     ENSP00000261558   ENSP00000452211   ENSP00000451306   ENSP00000390531   ENSP00000450422  

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    Uscn Proteins for AP5M1

    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:0005764lysosome IDA--
    GO:0005765lysosomal membrane IEA--
    GO:0005770late endosome IDA--
    GO:0005829cytosol IDA--
    GO:0016020membrane IDA--


    AP5M1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AP5M1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AP5M1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008968 Clathrin_mu_C

    Graphical View of Domain Structure for InterPro Entry Q9H0R1

    ProtoNet protein and cluster: Q9H0R1

    UniProtKB/Swiss-Prot: AP5M1_HUMAN, Q9H0R1
    Similarity: Belongs to the adaptor complexes medium subunit family
    Similarity: Contains 1 MHD (mu homology) domain


    Function
    for AP5M1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AP5M1_HUMAN, Q9H0R1
    Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport.
    According to PubMed:18395520, it may play a role in cell death

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    Inhib. RNA
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    Clone
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    Pathways & Interactions
    for AP5M1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP5M1

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

    5/41 Interacting proteins for AP5M1 (ENSP000002615584) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP5Z1ENSP000002975624STRING: ENSP00000297562
    AFTPHENSP000002388554STRING: ENSP00000238855
    AP1G2ENSP000003124424STRING: ENSP00000312442
    AP1S1ENSP000003366664STRING: ENSP00000336666
    AP2A1ENSP000003519264STRING: ENSP00000351926
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--
    GO:0016197endosomal transport IMP--


    AP5M1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AP5M1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP5M1
    Search CenterWatch for drugs/clinical trials and news about AP5M1 

    Transcripts
    for AP5M1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for AP5M1 gene: 
    NM_018229.3  

    Unigene Cluster for AP5M1:

    Adaptor-related protein complex 5, mu 1 subunit
    Hs.597349  [show with all ESTs]
    Unigene Representative Sequence: NM_018229
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261558(uc001xcv.3 uc010tri.2 uc010trj.2) ENST00000554931(uc001xcu.4)
    ENST00000556995 ENST00000555448 ENST00000431972 ENST00000554213 ENST00000556723
    ENST00000554863 ENST00000556377

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF094583.1 AK001675.1 AK172824.1 AK225345.1 AK303999.1 AL136685.1 NR_026895.1 

    11 DOTS entries:

    DT.450151  DT.95173270  DT.91794033  DT.91816126  DT.100022163  DT.99997950  DT.100815462  DT.100815465 
    DT.100815468  DT.95295138  DT.75100186 

    24/261 AceView cDNA sequences (see all 261):

    AW135460 AI337184 AI279487 BG571052 AW629124 AI271990 CA449380 CA428726 
    AA449085 BI491327 AI459887 AA665748 AL119778 AA550807 CK820276 AA766007 
    CR619762 CN482562 BQ420545 BM704534 AU135787 BM671681 BQ428448 AA503849 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AP5M1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for AP5M1

    Expression
    for AP5M1 gene

    (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

    AP5M1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTTTTTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AP5M1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AP5M1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP5M1

    SOURCE GeneReport for Unigene cluster: Hs.597349

    UniProtKB/Swiss-Prot: AP5M1_HUMAN, Q9H0R1
    Tissue specificity: Expressed in various tumor cell lines including Jurkat, Hep-G2 and HeLa

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    In Situ
    Assay Products:     
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    Orthologs
    for AP5M1 gene

    (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 AP5M1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ap5m11 , 5 MU-2/AP1M2 domain containing, death-inducing5
    adaptor-related protein complex 5, mu 1 subunit1    		 86.3(n)1
    85.07(a)1    		   14 (25.36 cM)5
    743851  NM_144535.41  NP_653118.31 
     490664955 
    chicken
    (Gallus gallus)    		 Aves MUDENG1 MU-2/AP1M2 domain containing, death-inducing 66.39(n)
    63.41(a)    		   423548  XM_421441.2  XP_421441.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MUDENG6
    		 --
    		 70(a)
    		 1 ↔ 1
    		 GL343325.1(929627-950460)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.204182 Transcribed sequence with weak similarity to protein more 74.13(n)    BX772144.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.133302 Transcribed sequence with weak similarity to protein more 71.13(n)    AL918219.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G207906
    		 clathrin adaptor complexes medium subunit family p...
    		 21(a)
    		 1 ↔ 1
    		 2(8949928-8952744)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 adaptor complexes medium subunit family protein, e...
    		 21(a)
    		 1 ↔ 1
    		 12(20799423-20804483)


    ENSEMBL Gene Tree for AP5M1 (if available)
    TreeFam Gene Tree for AP5M1 (if available) 

    Paralogs
    for AP5M1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AP5M1 gene

    AP5M1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AP5M1
    PGOHUM00000242646


    Genomic Variants
    for AP5M1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/319 NCBI SNPs in AP5M1 are shown (see all 319)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1900564041,2
    		--57737757(+) GAGGAA/GCTCAA 2 -- int10--------
    rs1445744071,2
    		--57737844(+) ACAGTA/GCAAAT 2 -- int10--------
    rs1484537011,2
    		--57737980(+) CCTCAA/GATCTG 2 -- int10--------
    rs1166500851,2
    		C,--57738126(+) TTTTGC/GCAATA 2 -- int10--------
    rs1813020351,2
    		--57738300(+) TTAGTC/TCTATG 2 -- int10--------
    rs107139341,2
    		C,--57738350(+) TGTCAA/-TTAAC 2 -- int12Minor allele frequency- -:0.00NA 4
    rs1383736021,2
    		C,--57738388(+) CACTA-/TATTTT 2 -- int10--------
    rs11898961,2
    		C,F,A,H,--57738407(+) TCAAAC/GTAGTT 2 -- int19Minor allele frequency- G:0.29NS NA WA CSA EA 487
    rs1857716131,2
    		--57738679(+) CTCATA/GTAAAT 2 -- int10--------
    rs1905808661,2
    		--57738721(+) TTCTTG/TTACCA 2 -- int10--------

    HapMap Linkage Disequilibrium report for AP5M1 (57735606 - 57756797 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AP5M1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP5M1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP5M1

    Disorders / Diseases
    for AP5M1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AP5M1 for disorders           About MalaCards

    AP5M1 for disorders           About GeneDecksing

    OMIM gene information: 614368    OMIM disorders: --


    Export disorders for AP5M1 gene to outside databases

    Publications
    for AP5M1 gene

    (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 AP5M1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AP5M1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel protein, MUDENG, induces cell death in cytotoxic T cells. (PubMed id 18395520)1, 2, 3 Lee M.-R.... Kim T.-H. (2008)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    5. The fifth adaptor protein complex. (PubMed id 22022230)2 Hirst J.... Robinson M.S. (2011)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    External Searches for AP5M1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing AP5M1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55745 HGNC: 20192 AceView: C14orf108 Ensembl:ENSG00000053770 euGenes: HUgn55745
    ECgene: AP5M1 H-InvDB: AP5M1

    Other Databases showing AP5M1 gene

    (According to HUGE)
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    Specialized Databases showing AP5M1 gene

    (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 AP5M1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AP5M1 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for AP5M1 gene:
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