Homo sapiens Protein: ASH2L
Summary
InnateDB Protein IDBP-479702.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASH2L
Protein Name ash2 (absent, small, or homeotic)-like (Drosophila)
Synonyms ASH2; ASH2L1; ASH2L2; Bre2;
Species Homo sapiens
Ensembl Protein ENSP00000430259
InnateDB Gene IDBG-17300 (ASH2L)
Protein Structure
UniProt Annotation
Function Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. {ECO:0000269PubMed:12670868, ECO:0000269PubMed:19556245}.
Subcellular Localization Nucleus {ECO:0000305PubMed:17355966}.
Disease Associations
Tissue Specificity Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes. {ECO:0000269PubMed:10393421}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 117 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 117 [view]
Protein-Protein 111 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006974 cellular response to DNA damage stimulus
GO:0008284 positive regulation of cell proliferation
GO:0030097 hemopoiesis
GO:0043627 response to estrogen
GO:0051568 histone H3-K4 methylation
Cellular Component
GO:0005634 nucleus
GO:0035097 histone methyltransferase complex
GO:0048188 Set1C/COMPASS complex
Protein Structure and Domains
PDB ID
InterPro IPR001870 B30.2/SPRY domain
IPR003877 SPRY domain
IPR008985 Concanavalin A-like lectin/glucanases superfamily
PFAM PF00622
PRINTS
PIRSF
SMART SM00449
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UBL3
PhosphoSite PhosphoSite-Q9UBL3
TrEMBL
UniProt Splice Variant
Entrez Gene 9070
UniGene Hs.608756
RefSeq NP_001248761
HUGO HGNC:744
OMIM 604782
CCDS CCDS59100
HPRD 05309
IMGT
EMBL AB020982 AB022785 AF056717 AF056718 AK291938 BC015936 CH471080
GenPept AAC13563 AAC13564 AAH15936 BAA35127 BAA74520 BAF84627 EAW63336 EAW63337 EAW63340