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

    Gene ID: 55870, updated on 5-May-2024

    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; AllianceGenome:HGNC:19088
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASH1L in Genome Data Viewer
    Location:
    1q22
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155335268..155563202, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154473797..154701755, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155305059..155532594, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155291392-155292375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155295943-155296500 Neighboring gene RUSC1 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase Neighboring gene RUN and SH3 domain containing 1 Neighboring gene RNA, U6 small nuclear 106, pseudogene Neighboring gene microRNA 555 Neighboring gene MPRA-validated peak419 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155386104-155386607 Neighboring gene RNA, U6 small nuclear 1297, pseudogene Neighboring gene POU class 5 homeobox 1 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr1:155469805-155470306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155484783-155485282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155499969-155500470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155515470-155515970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1817 Neighboring gene Sharpr-MPRA regulatory region 11909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1407 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155532613-155533180 Neighboring gene Sharpr-MPRA regulatory region 7926 Neighboring gene uncharacterized LOC101929703 Neighboring gene ASH1L antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:155546798-155546935 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:155556739-155556902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155560641-155561220 Neighboring gene misato mitochondrial distribution and morphology regulator 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 52
    MedGen: C4540478 OMIM: 617796 GeneReviews: Not available
    Compare labs

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10504, KIAA1420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables histone H3K36 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K36 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K9 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H3K9 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K9me2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tarsal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterine gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    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_011508071.1
    XP_011508072.1
    XP_016857274.1
    XP_016857275.1
    XP_016857276.1
    XP_016857277.1
    XP_047281186.1
    XP_047281191.1
    XP_047281197.1
    XP_047281203.1
    XP_047281204.1
    XP_054193641.1
    XP_054193642.1
    XP_054193643.1
    XP_054193644.1
    XP_054193645.1
    XP_054193646.1
    XP_054193647.1
    XP_054193648.1
    XP_054193649.1
    XP_054193650.1
    XP_054193651.1
    XP_054193652.1
    XP_054193653.1
    XP_054193654.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS91067.1
      UniProtKB/Swiss-Prot
      Q59GP1, Q5T714, Q5T715, Q9NR48, Q9P2C7
      UniProtKB/TrEMBL
      A0A7I2V4K0
      Related
      ENSP00000357330.3, ENST00000368346.7
      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/TrEMBL
      A0A7I2V4K0
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155335268..155563202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425248.1XP_047281204.1  histone-lysine N-methyltransferase ASH1L isoform X2

      UniProtKB/TrEMBL
      A0A7I2YQU9
    2. XM_017001785.2XP_016857274.1  histone-lysine N-methyltransferase ASH1L isoform X1

      UniProtKB/TrEMBL
      A0A7I2V4K0
      Related
      ENSP00000503315.1, ENST00000677213.1
      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_006711450.4XP_006711513.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006711513.1

      UniProtKB/TrEMBL
      A0A7I2V4K0
      Related
      ENSP00000504026.1, ENST00000679133.1
      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_047425247.1XP_047281203.1  histone-lysine N-methyltransferase ASH1L isoform X2

      UniProtKB/TrEMBL
      A0A7I2YQU9
      Related
      ENSP00000504598.1, ENST00000679333.1
    5. XM_006711451.4XP_006711514.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006711514.1

      UniProtKB/TrEMBL
      A0A7I2V4K0
      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
    6. XM_047425230.1XP_047281186.1  histone-lysine N-methyltransferase ASH1L isoform X1

    7. XM_047425235.1XP_047281191.1  histone-lysine N-methyltransferase ASH1L isoform X1

    8. XM_047425241.1XP_047281197.1  histone-lysine N-methyltransferase ASH1L isoform X1

    9. XM_011509770.4XP_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
    10. XM_017001788.2XP_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
    11. XM_017001786.3XP_016857275.1  histone-lysine N-methyltransferase ASH1L isoform X3

      UniProtKB/TrEMBL
      A0A7I2V4K0
    12. XM_017001787.3XP_016857276.1  histone-lysine N-methyltransferase ASH1L isoform X4

      UniProtKB/TrEMBL
      A0A7I2V542
    13. XM_005245337.6XP_005245394.1  histone-lysine N-methyltransferase ASH1L isoform X5

      UniProtKB/TrEMBL
      A0A7I2V316, A0A7I2V542
      Related
      ENSP00000503202.1, ENST00000678699.1
    14. XM_011509769.4XP_011508071.1  histone-lysine N-methyltransferase ASH1L isoform X6

      UniProtKB/TrEMBL
      A0A7I2V3D6, A0A7I2V542
      Related
      ENSP00000503440.1, ENST00000677042.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154473797..154701755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337673.1XP_054193648.1  histone-lysine N-methyltransferase ASH1L isoform X2

    2. XM_054337668.1XP_054193643.1  histone-lysine N-methyltransferase ASH1L isoform X1

    3. XM_054337666.1XP_054193641.1  histone-lysine N-methyltransferase ASH1L isoform X1

    4. XM_054337667.1XP_054193642.1  histone-lysine N-methyltransferase ASH1L isoform X1

    5. XM_054337672.1XP_054193647.1  histone-lysine N-methyltransferase ASH1L isoform X2

    6. XM_054337671.1XP_054193646.1  histone-lysine N-methyltransferase ASH1L isoform X1

    7. XM_054337669.1XP_054193644.1  histone-lysine N-methyltransferase ASH1L isoform X1

    8. XM_054337670.1XP_054193645.1  histone-lysine N-methyltransferase ASH1L isoform X1

    9. XM_054337678.1XP_054193653.1  histone-lysine N-methyltransferase ASH1L isoform X7

    10. XM_054337679.1XP_054193654.1  histone-lysine N-methyltransferase ASH1L isoform X7

    11. XM_054337674.1XP_054193649.1  histone-lysine N-methyltransferase ASH1L isoform X3

    12. XM_054337675.1XP_054193650.1  histone-lysine N-methyltransferase ASH1L isoform X4

    13. XM_054337676.1XP_054193651.1  histone-lysine N-methyltransferase ASH1L isoform X5

      UniProtKB/TrEMBL
      A0A7I2V316
    14. XM_054337677.1XP_054193652.1  histone-lysine N-methyltransferase ASH1L isoform X6

      UniProtKB/TrEMBL
      A0A7I2V3D6