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

Gene ID: 55870, updated on 3-Nov-2018

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; Vega:OTTHUMG00000014011
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 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (155335261..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 Jun 15 11:32:44 2016

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
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 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-lysine N-methyltransferase activity TAS
Traceable Author Statement
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
 
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_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_001366177.1NP_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_018489.2NP_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, AI912552, AL139410, AL353807, BQ883186, CN365042, DA236222
    Consensus CDS
    CCDS1113.2
    UniProtKB/Swiss-Prot
    Q9NR48
    Related
    ENSP00000376204.3, OTTHUMP00000015898, ENST00000392403.7, OTTHUMT00000039401
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    155335261..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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