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ASH1L Gene

protein-coding   GIFtS: 62
GCID: GC01M155305

Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila)

  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)
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Aliases
Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila)1 2     ASH12 5
Absent Small And Homeotic Disks Protein 1 Homolog2 3     KIAA14203 5
Lysine N-Methyltransferase 2H2 3     ASH1L12
KMT2H2 3     Histone-Lysine N-Methyltransferase ASH1L2
ASH1-Like Protein2 3     Probable Histone-Lysine N-Methyltransferase ASH1L2
EC 2.1.1.433 8     huASH13

External Ids:    HGNC: 190881   Entrez Gene: 558702   Ensembl: ENSG000001165397   OMIM: 6079995   UniProtKB: Q9NR483   

Export aliases for ASH1L gene to outside databases

Previous GC identifers: GC01M152084 GC01M152523 GC01M152119 GC01M153571 GC01M126666


(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 ASH1L Gene:
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT
hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the
nucleus, and also to cell-cell tight junctions. (provided by RefSeq, Jul 2008)

GeneCards Summary for ASH1L Gene:
ASH1L (ash1 (absent, small, or homeotic)-like (Drosophila)) is a protein-coding gene. Diseases associated with ASH1L include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include histone-lysine N-methyltransferase activity. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: ASH1L_HUMAN, Q9NR48
Function: Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me)

Gene Wiki entry for ASH1L 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_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASH1L gene promoter:
         AML1a   NCX/Ncx   Olf-1   Ik-3   YY1   AREB6   S8   COMP1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASH1L promoter sequence
   Search Chromatin IP Primers for ASH1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASH1L


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

ASH1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASH1L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155305:  view genomic region     (about GC identifiers)

Start:
155,305,052 bp from pter      End:
155,532,598 bp from pter
Size:
227,547 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: ASH1L_HUMAN, Q9NR48 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase ASH1L  
Size: 2969 amino acids; 332790 Da
Sequence caution: Sequence=BAA92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for ASH1L:
3MQM (3D)        3OPE (3D)    
Secondary accessions: Q59GP1 Q5T714 Q5T715 Q9P2C7
Alternative splicing: 2 isoforms:  Q9NR48-1   Q9NR48-2   

Explore the universe of human proteins at neXtProt for ASH1L: NX_Q9NR48

Explore proteomics data for ASH1L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys402, Lys406
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ASH1L (Q9NR48)
     NHSCDPN  QKWSVNG 


    See ASH1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060959.2  
    ENSEMBL proteins: 
     ENSP00000357330   ENSP00000376204   ENSP00000448820   ENSP00000449283  

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    Cloud-Clone Corp. Proteins for ASH1L

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    LSBio Antibodies in human, mouse, rat for ASH1L

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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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    HGNC Gene Families:
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 11):
     IPR017956 AT_hook_DNA-bd_motif
     IPR001214 SET_dom
     IPR001965 Znf_PHD
     IPR003616 Post-SET_dom
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9NR48

    ProtoNet protein and cluster: Q9NR48

    5 Blocks protein domains:
    IPB001025 Bromo adjacent region
    IPB001214 Nuclear protein SET
    IPB001487 Bromodomain signature
    IPB001965 Zn-finger-like
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: ASH1L_HUMAN, Q9NR48
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. SET2 subfamily
    Similarity: Contains 3 A.T hook DNA-binding domains
    Similarity: Contains 1 AWS domain
    Similarity: Contains 1 BAH domain
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 SET domain


    ASH1L 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: ASH1L_HUMAN, Q9NR48
    Function: Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me)
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IEA--
         
    ASH1L for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASH1L
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    miRNA
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    miRTarBase miRNAs that target ASH1L:
    hsa-mir-361-5p (MIRT044085), hsa-mir-877-3p (MIRT037090), hsa-mir-103a-3p (MIRT027138), hsa-mir-193b-3p (MIRT041462), hsa-mir-185-5p (MIRT045370), hsa-mir-625-5p (MIRT039596), hsa-mir-16-5p (MIRT031796), hsa-mir-17-5p (MIRT050880)

    Block miRNA regulation of human, mouse, rat ASH1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASH1L (see all 127):
    hsa-miR-520e hsa-miR-520f hsa-miR-631 hsa-miR-15a hsa-miR-106a hsa-miR-1224-3p hsa-miR-1258 hsa-miR-1260b
    SwitchGear 3'UTR luciferase reporter plasmidASH1L 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ASH1L
    Predesigned siRNA for gene silencing in human, mouse, rat ASH1L

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ASH1L (NM_018489)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASH1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH1L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH1L


    (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
    ASH1L_HUMAN, Q9NR48: Nucleus. Cell junction, tight junction. Chromosome (Probable). Note=The relevance of tight
    junction localization is however unclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    ASH1L 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 ASH1L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Tight junction
    Tight junction
    2Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for ASH1L):
        Lysine degradation
    Tight junction


    ASH1L for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASH1L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Tight Junctions in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ASH1L

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

    Selected Interacting proteins for ASH1L (Q9NR482, 3 ENSP000003762044) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006323DNA packaging TAS10860993
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006366transcription from RNA polymerase II promoter TAS10860993
    GO:0007267cell-cell signaling TAS10860993

    ASH1L 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASH1L

    2 HMDB Compounds for ASH1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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 ASH1L gene: 
    NM_018489.2  

    Unigene Cluster for ASH1L:

    Ash1 (absent, small, or homeotic)-like (Drosophila)
    Hs.491060  [show with all ESTs]
    Unigene Representative Sequence: NM_018489
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368346(uc001fkt.3 uc009wqq.3) ENST00000392403(uc009wqr.1)
    ENST00000478837 ENST00000548566 ENST00000492987 ENST00000477427 ENST00000548830

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ASH1L (see all 127):
    hsa-miR-520e hsa-miR-520f hsa-miR-631 hsa-miR-15a hsa-miR-106a hsa-miR-1224-3p hsa-miR-1258 hsa-miR-1260b
    SwitchGear 3'UTR luciferase reporter plasmidASH1L 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ASH1L (NM_018489)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH1L
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ASH1L
      QuantiFast Probe-based Assays in human, mouse, rat ASH1L

    Additional mRNA sequence: 

    AB037841.1 AB209068.1 AF257305.1 AK304873.1 AK307595.1 

    10 DOTS entries:

    DT.311859  DT.121325505  DT.445679  DT.91944132  DT.100736217  DT.121325586  DT.91662732  DT.92429463 
    DT.95111078  DT.95166612 

    Selected AceView cDNA sequences (see all 204):

    BM055353 AA602746 H93054 BM272260 BM126034 AA765969 N35460 BF956319 
    BE327624 AI470100 AI640746 AA713968 NM_018489 BM055069 BE550719 N24669 
    AA258614 AI806500 BG290742 AF257305 AI868479 AI041564 BE222473 BM971692 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ASH1L (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                                                                                                        -   
    SP2:                                                  -                                                                                                         
    SP3:                                                  -                                                                                                         
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                            

    ExUns: 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29
    SP1:  -                             -                                 
    SP2:                                                                  
    SP3:                                                                  
    SP4:  -                                                               
    SP5:                                                                  


    ECgene alternative splicing isoforms for ASH1L

    (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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    ASH1L expression in normal human tissues (normalized intensities)      ASH1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTAGGCT
    ASH1L Expression
    About this image


    ASH1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Brain (Nervous System)
             Lateral Ventricle
    ASH1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASH1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491060

    UniProtKB/Swiss-Prot: ASH1L_HUMAN, Q9NR48
    Tissue specificity: Widely expressed, with highest level in brain, heart and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASH1L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Tight Junctions in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASH1L
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    QuantiFast Probe-based Assays in human, mouse, rat ASH1L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH1L

    (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 ASH1L gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ash1l1 , 5 ash1 (absent, small, or homeotic)-like (Drosophila)1, 5 89.02(n)1
    92.22(a)1
      3 (39.01 cM)5
    1921951  NM_138679.51  NP_619620.31 
     889658125 
    chicken
    (Gallus gallus)
    Aves ASH1L1 ash1 (absent, small, or homeotic)-like (Drosophila) 75.56(n)
    80.88(a)
      425064  XM_004948282.1  XP_004948339.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASH1L6
    ash1 (absent, small, or homeotic)-like (Drosophila...
    72(a)
    1 ↔ 1
    GL343519.1(282248-338913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44592 Xenopus laevis transcribed sequence with moderate similarity more 76.87(n)    BJ618203.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi34d112 Transcribed sequence with moderate similarity to protein more 75.67(n)    57065548 
    fruit fly
    (Drosophila melanogaster)
    Insecta ash16
    absent, small, or homeotic discs 1
    30(a)
    1 ↔ 1
    3L(19583873-19591855)
    worm
    (Caenorhabditis elegans)
    Secernentea set-256
    Protein SET-25 (set-25) mRNA, complete cds
    17(a)
    many ↔ many
    III(13283892-13293085) WBGene00012802
    barley
    (Hordeum vulgare)
    Liliopsida CD662465.12   -- 73.51(n)    CD662465.1 


    ENSEMBL Gene Tree for ASH1L (if available)
    TreeFam Gene Tree for ASH1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASH1L gene
    NSD12  WHSC12  WHSC1L12  SUV39H22  SETBP12  SETDB22  SUV39H12  SETD22  
    EHMT12  EHMT22  SETMAR2  SETDB12  
    4 SIMAP similar genes for ASH1L using alignment to 3 protein entries:     ASH1L_HUMAN (see all proteins):
    FAM175A    KMT2E    SETBP1    FP13812

    ASH1L 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), 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)
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    Selected SNPs for ASH1L (see all 3894)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs66773851,2
    C,F,A,H--155304581(+) aaaaaA/CCCAAC 1 -- ds500110Minor allele frequency- C:0.50NA WA CSA EA 371
    rs1470788721,2
    --155304603(+) ACTACA/GTTAGG 1 -- ds50010--------
    rs1384919441,2
    C--155304714(+) ATCATC/TTGAGT 1 -- ds50010--------
    rs1836061401,2
    --155304753(+) GATTGC/TGCCAT 1 -- ds50010--------
    rs1440475821,2
    --155304790(+) ACTCTA/GTCTCA 1 -- ds50010--------
    rs730069421,2
    C,F--155304842(+) TATTAC/TTGTGC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1901925521,2
    --155304862(+) AGGCTA/GAGTCC 1 -- ds50010--------
    rs775264941,2
    F--155304886(+) CCTAGT/CACTGA 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs66952981,2
    C,H--155305059(+) CACAGT/GTAGGA 1 -- ut316Minor allele frequency- G:0.00NS EA NA 416
    rs115522681,2
    C--155305290(+) TGCAGT/GGATGT 1 -- ut31 ese32Minor allele frequency- G:0.00NA 4

    HapMap Linkage Disequilibrium report for ASH1L (155305052 - 155532598 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ASH1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2476624CNV Deletion19546169
    esv2718418CNV Deletion23290073
    dgv3n68CNV Loss17160897
    nsv831636CNV Loss17160897
    nsv872468CNV Loss21882294
    nsv872457CNV Loss21882294
    nsv872467CNV Loss21882294
    esv33869CNV Loss17666407
    dgv132e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ASH1L
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASH1L
    DNA2.0 Custom Variant and Variant Library Synthesis for ASH1L

    (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.)
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    OMIM gene information: 607999    OMIM disorders: --

    5 diseases for ASH1L:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy    intellectual disability    lung cancer
    thyroiditis

    1 disease from the University of Copenhagen DISEASES database for ASH1L:
    Facioscapulohumeral muscular dystrophy

    ASH1L for disorders           About GeneDecksing


    Export disorders for ASH1L 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 ASH1L gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with ASH1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions. (PubMed id 10860993)1, 2, 3, 9 Nakamura T.... Canaani E. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (PubMed id 21239497)1, 2 An S.... Song J.J. (J. Biol. Chem. 2011)
    3. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. (PubMed id 17203973)1, 2 Vasilescu J.... Figeys D. (J. Proteome Res. 2007)
    4. An anthropoid-specific segmental duplication on human chromosome 1q22. (PubMed id 16545939)1, 3 Kuryshev V.Y....Wiemann S. (Genomics 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases. (PubMed id 24019522)1 Yuan G....Zhu B. (J. Biol. Chem. 2013)
    9. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. (PubMed id 22541069)1 Cabianca D.S....Gabellini D. (Cell 2012)
    10. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55870 HGNC: 19088 AceView: ASH1L Ensembl:ENSG00000116539 euGenes: HUgn55870
    ECgene: ASH1L Kegg: 55870 H-InvDB: ASH1L

    (According to HUGE)
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    HUGE: KIAA1420

    (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 ASH1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASH1L gene:
    Search GeneIP for patents involving ASH1L

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



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