ENSG00000116539


Homo sapiens

Features
Gene ID: ENSG00000116539
  
Biological name :ASH1L
  
Synonyms : ASH1L / ASH1 like histone lysine methyltransferase / Q9NR48
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q22
Gene start: 155335268
Gene end: 155562807
  
Corresponding Affymetrix probe sets: 218554_s_at (Human Genome U133 Plus 2.0 Array)   222667_s_at (Human Genome U133 Plus 2.0 Array)   226447_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357330
Ensembl peptide - ENSP00000376204
Ensembl peptide - ENSP00000448820
Ensembl peptide - ENSP00000449283
NCBI entrez gene - 55870     See in Manteia.
OMIM - 607999
RefSeq - XM_017001788
RefSeq - XM_011509770
RefSeq - XM_017001784
RefSeq - XM_017001785
RefSeq - XM_017001786
RefSeq - NM_018489
RefSeq - XM_006711450
RefSeq - XM_006711451
RefSeq - XM_006711452
RefSeq Peptide - NP_060959
swissprot - H0YI82
swissprot - F8VWK7
swissprot - Q9NR48
Ensembl - ENSG00000116539
  
Related genetic diseases (OMIM): 617796 - Mental retardation, autosomal dominant 52, 617796
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ash1lENSDARG00000070981Danio rerio
 ASH1LENSGALG00000014638Gallus gallus
 Ash1lENSMUSG00000028053Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SETD2 / Q9BYW2 / SET domain containing 2ENSG0000018155516
NSD1 / Q96L73 / nuclear receptor binding SET domain protein 1ENSG0000016567111
NSD2 / O96028 / nuclear receptor binding SET domain protein 2ENSG000001096858
NSD3 / Q9BZ95 / nuclear receptor binding SET domain protein 3ENSG000001475487
Q9Y6X0 / SETBP1 / SET binding protein 1ENSG000001522176
EHMT2 / Q96KQ7 / euchromatic histone lysine methyltransferase 2ENSG000002043715
Q15047 / SETDB1 / SET domain bifurcated 1ENSG000001433795
EHMT1 / Q9H9B1 / euchromatic histone lysine methyltransferase 1ENSG000001810905
EZH1 / Q92800 / enhancer of zeste 1 polycomb repressive complex 2 subunitENSG000001087994
EZH2 / Q15910 / enhancer of zeste 2 polycomb repressive complex 2 subunitENSG000001064624
Q9H5I1 / SUV39H2 / suppressor of variegation 3-9 homolog 2ENSG000001524553
Q53H47 / SETMAR / SET domain and mariner transposase fusion geneENSG000001703643
O43463 / SUV39H1 / suppressor of variegation 3-9 homolog 1ENSG000001019453
Q96T68 / SETDB2 / SET domain bifurcated 2ENSG000001361692


Protein motifs (from Interpro)
Interpro ID Name
 IPR001025  Bromo adjacent homology (BAH) domain
 IPR001214  SET domain
 IPR001487  Bromodomain
 IPR001965  Zinc finger, PHD-type
 IPR003616  Post-SET domain
 IPR006560  AWS domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017956  AT hook, DNA-binding motif
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR036427  Bromodomain-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0002674 negative regulation of acute inflammatory response IEA
 biological_processGO:0006323 DNA packaging TAS
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007338 single fertilization IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0032259 methylation IEA
 biological_processGO:0032635 interleukin-6 production IEA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0043409 negative regulation of MAPK cascade IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046697 decidualization IEA
 biological_processGO:0048733 sebaceous gland development IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0051568 histone H3-K4 methylation IEA
 biological_processGO:0061038 uterus morphogenesis IEA
 biological_processGO:0097676 histone H3-K36 dimethylation IDA
 biological_processGO:0097722 sperm motility IEA
 biological_processGO:1903699 tarsal gland development IEA
 biological_processGO:1903709 uterine gland development IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005923 bicellular tight junction TAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0018024 histone-lysine N-methyltransferase activity TAS
 molecular_functionGO:0042800 histone methyltransferase activity (H3-K4 specific) IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046975 histone methyltransferase activity (H3-K36 specific) IDA


Pathways (from Reactome)
Pathway description
PKMTs methylate histone lysines


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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