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

Gene ID: 55870, updated on 2-Nov-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
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Genomic context

See ASH1L in Genome Data Viewer
Location:
1q22
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155335268..155563202, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154473797..154701755, complement)
RS_2024_09 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 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_2024_08

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