InnateDB Protein
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IDBP-479702.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ASH2L
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Protein Name
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ash2 (absent, small, or homeotic)-like (Drosophila)
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Synonyms
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ASH2; ASH2L1; ASH2L2; Bre2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000430259
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InnateDB Gene
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IDBG-17300 (ASH2L)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000305PubMed:17355966}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
111
[view]
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Protein-DNA |
6
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
14 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001870
B30.2/SPRY domain
IPR003877
SPRY domain
IPR008985
Concanavalin A-like lectin/glucanases superfamily
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PFAM |
PF00622
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PRINTS |
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PIRSF |
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SMART |
SM00449
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBL3
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PhosphoSite |
PhosphoSite-Q9UBL3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9070
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UniGene |
Hs.608756
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RefSeq |
NP_001248761
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HUGO |
HGNC:744
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OMIM |
604782
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CCDS |
CCDS59100
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HPRD |
05309
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IMGT |
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EMBL |
AB020982
AB022785
AF056717
AF056718
AK291938
BC015936
CH471080
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GenPept |
AAC13563
AAC13564
AAH15936
BAA35127
BAA74520
BAF84627
EAW63336
EAW63337
EAW63340
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