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ASH2L ASH2 like, histone lysine methyltransferase complex subunit [ Homo sapiens (human) ]

Gene ID: 9070, updated on 18-May-2019

Summary

Official Symbol
ASH2Lprovided by HGNC
Official Full Name
ASH2 like, histone lysine methyltransferase complex subunitprovided by HGNC
Primary source
HGNC:HGNC:744
See related
Ensembl:ENSG00000129691 MIM:604782
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASH2; Bre2; ASH2L1; ASH2L2
Expression
Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See ASH2L in Genome Data Viewer
Location:
8p11.23
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (38104965..38140080)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37962483..37997598)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene adrenoceptor beta 3 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene RNA, U6 small nuclear 988, pseudogene Neighboring gene STAR 5' regulatory region Neighboring gene uncharacterized LOC105379382 Neighboring gene steroidogenic acute regulatory protein Neighboring gene LSM1 homolog, mRNA degradation associated

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

NHGRI GWAS Catalog

Description
A genome-wide association study of early menopause and the combined impact of identified variants.
NHGRI GWA Catalog
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
    Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
    Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
  • 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...
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
    Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
  • 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),...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
euchromatin binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to histone methyltransferase activity (H3-K4 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
hemopoiesis NAS
Non-traceable Author Statement
more info
PubMed 
histone H3-K4 methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
MLL1 complex IEA
Inferred from Electronic Annotation
more info
 
MLL3/4 complex IDA
Inferred from Direct Assay
more info
PubMed 
Set1C/COMPASS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Set1C/COMPASS complex IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase complex IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear euchromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
set1/Ash2 histone methyltransferase complex subunit ASH2
Names
ASH2-like protein
ash2 (absent, small, or homeotic)-like

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_001105214.2NP_001098684.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b

    See identical proteins and their annotated locations for NP_001098684.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC084024, BC015936, DA156139
    Consensus CDS
    CCDS47840.1
    UniProtKB/Swiss-Prot
    Q9UBL3
    Related
    ENSP00000395310.2, ENST00000428278.6
    Conserved Domains (2) summary
    cd15583
    Location:756
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:298489
    SPRY_Ash2; SPRY domain in Ash2
  2. NM_001261832.1NP_001248761.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform c

    See identical proteins and their annotated locations for NP_001248761.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC084024, AF056717, DA156139
    Consensus CDS
    CCDS59100.1
    UniProtKB/Swiss-Prot
    Q9UBL3
    Related
    ENSP00000430259.1, ENST00000521652.5
    Conserved Domains (2) summary
    cd15583
    Location:756
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:298400
    SPRY_Ash2; SPRY domain in Ash2
  3. NM_001282272.1NP_001269201.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform d

    See identical proteins and their annotated locations for NP_001269201.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC084024, AK298483, DC353644
    Consensus CDS
    CCDS64872.1
    UniProtKB/TrEMBL
    B4DPT1, F5H8F7
    Related
    ENSP00000443606.1, ENST00000545394.2
    Conserved Domains (1) summary
    cd12872
    Location:253444
    SPRY_Ash2; SPRY domain in Ash2
  4. NM_004674.5NP_004665.2  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform a

    See identical proteins and their annotated locations for NP_004665.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AB020982, AC084024, DC353644
    Consensus CDS
    CCDS6101.1
    UniProtKB/Swiss-Prot
    Q9UBL3
    Related
    ENSP00000340896.5, ENST00000343823.10
    Conserved Domains (2) summary
    cd15583
    Location:101150
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:392583
    SPRY_Ash2; SPRY domain in Ash2

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.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    38104965..38140080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273682.1XP_005273739.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

    Conserved Domains (2) summary
    cd15583
    Location:101150
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:398589
    SPRY_Ash2; SPRY domain in Ash2
  2. XM_006716412.1XP_006716475.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2

    Conserved Domains (2) summary
    cd15583
    Location:101150
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:398500
    SPRY_Ash2; SPRY domain in Ash2
  3. XM_006716413.3XP_006716476.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3

    Conserved Domains (2) summary
    cd15583
    Location:101150
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:392494
    SPRY_Ash2; SPRY domain in Ash2
  4. XM_005273683.1XP_005273740.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4

    See identical proteins and their annotated locations for XP_005273740.1

    Conserved Domains (2) summary
    cd15583
    Location:756
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:304495
    SPRY_Ash2; SPRY domain in Ash2
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