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    ASH1L ASH1 like histone lysine methyltransferase [ Homo sapiens (human) ]

    Gene ID: 55870, updated on 17-Jun-2019

    Summary

    Official Symbol
    ASH1Lprovided by HGNC
    Official Full Name
    ASH1 like histone lysine methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:19088
    See related
    Ensembl:ENSG00000116539 MIM:607999
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASH1; KMT2H; MRD52; ASH1L1
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 12.4), thyroid (RPKM 10.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ASH1L in Genome Data Viewer
    Location:
    1q22
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155335263..155563160, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155305052..155532324, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RUSC1 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase Neighboring gene RUN and SH3 domain containing 1 Neighboring gene microRNA 555 Neighboring gene RNA, U6 small nuclear 106, pseudogene Neighboring gene RNA, U6 small nuclear 1297, pseudogene Neighboring gene POU class 5 homeobox 1 pseudogene 4 Neighboring gene uncharacterized LOC101929703 Neighboring gene ASH1L antisense RNA 1 Neighboring gene claudin 6 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
    MedGen: C4540478 OMIM: 617796 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2017-12-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2017-12-27)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Histone Modifications, organism-specific biosystem (from WikiPathways)
      Histone Modifications, organism-specific biosystemHistones can undergo many post-translational modifications that are involved in transcription regulation. This pathway provides an overview of various modifications for histones H3 and H4 and the en...
    • Lysine degradation, organism-specific biosystem (from KEGG)
      Lysine degradation, organism-specific biosystem
      Lysine degradation
    • Lysine degradation, conserved biosystem (from KEGG)
      Lysine degradation, conserved biosystem
      Lysine degradation
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10504, KIAA1420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone methyltransferase activity (H3-K36 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase activity (H3-K4 specific) IEA
    Inferred from Electronic Annotation
    more info
     
    histone methyltransferase activity (H3-K9 specific) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA packaging TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3-K36 dimethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3-K9 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    tarsal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    uterine gland development IEA
    Inferred from Electronic Annotation
    more info
     
    uterus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase ASH1L
    Names
    ASH1-like protein
    absent small and homeotic disks protein 1 homolog
    ash1 (absent, small, or homeotic)-like
    lysine N-methyltransferase 2H
    probable histone-lysine N-methyltransferase ASH1L
    NP_001353106.1
    NP_060959.2
    XP_005245394.1
    XP_006711513.1
    XP_006711514.1
    XP_006711515.1
    XP_011508071.1
    XP_011508072.1
    XP_016857273.1
    XP_016857274.1
    XP_016857275.1
    XP_016857276.1
    XP_016857277.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366177.2NP_001353106.1  histone-lysine N-methyltransferase ASH1L isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF257305, AL139410, AL353807
      Conserved Domains (5) summary
      cd05525
      Location:24432548
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20922143
      AWS; associated with SET domains
      smart00317
      Location:21462266
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26652799
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25862628
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    2. NM_018489.3NP_060959.2  histone-lysine N-methyltransferase ASH1L isoform 2

      See identical proteins and their annotated locations for NP_060959.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF257305, AL139410, AL353807, BQ883186, CN365042, DA236222
      Consensus CDS
      CCDS1113.2
      UniProtKB/Swiss-Prot
      Q9NR48
      Related
      ENSP00000376204.3, ENST00000392403.8
      Conserved Domains (5) summary
      cd05525
      Location:24382543
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20872138
      AWS; associated with SET domains
      smart00317
      Location:21412261
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26602794
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25812623
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      155335263..155563160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001785.1XP_016857274.1  histone-lysine N-methyltransferase ASH1L isoform X1

      UniProtKB/Swiss-Prot
      Q9NR48
      Conserved Domains (5) summary
      cd05525
      Location:24382543
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20872138
      AWS; associated with SET domains
      smart00317
      Location:21412261
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26602794
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25812623
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    2. XM_017001784.1XP_016857273.1  histone-lysine N-methyltransferase ASH1L isoform X1

      UniProtKB/Swiss-Prot
      Q9NR48
      Conserved Domains (5) summary
      cd05525
      Location:24382543
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20872138
      AWS; associated with SET domains
      smart00317
      Location:21412261
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26602794
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25812623
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    3. XM_006711450.3XP_006711513.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006711513.1

      UniProtKB/Swiss-Prot
      Q9NR48
      Conserved Domains (5) summary
      cd05525
      Location:24382543
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20872138
      AWS; associated with SET domains
      smart00317
      Location:21412261
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26602794
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25812623
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    4. XM_006711451.3XP_006711514.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006711514.1

      UniProtKB/Swiss-Prot
      Q9NR48
      Conserved Domains (5) summary
      cd05525
      Location:24382543
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20872138
      AWS; associated with SET domains
      smart00317
      Location:21412261
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26602794
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25812623
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    5. XM_006711452.4XP_006711515.1  histone-lysine N-methyltransferase ASH1L isoform X2

      Conserved Domains (5) summary
      cd05525
      Location:23782483
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20272078
      AWS; associated with SET domains
      smart00317
      Location:20812201
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26002734
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25212563
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    6. XM_011509770.3XP_011508072.1  histone-lysine N-methyltransferase ASH1L isoform X7

      Conserved Domains (5) summary
      cd05525
      Location:718823
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:367418
      AWS; associated with SET domains
      smart00317
      Location:421541
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:9401074
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:861903
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    7. XM_017001788.1XP_016857277.1  histone-lysine N-methyltransferase ASH1L isoform X7

      Conserved Domains (5) summary
      cd05525
      Location:718823
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:367418
      AWS; associated with SET domains
      smart00317
      Location:421541
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:9401074
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:861903
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    8. XM_017001786.2XP_016857275.1  histone-lysine N-methyltransferase ASH1L isoform X3

    9. XM_017001787.2XP_016857276.1  histone-lysine N-methyltransferase ASH1L isoform X4

    10. XM_005245337.5XP_005245394.1  histone-lysine N-methyltransferase ASH1L isoform X5

    11. XM_011509769.3XP_011508071.1  histone-lysine N-methyltransferase ASH1L isoform X6

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