Version 5.4
Homo sapiens Protein: ASXL3
Summary
InnateDB Protein IDBP-2302.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASXL3
Protein Name additional sex combs like 3 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000269197
InnateDB Gene IDBG-2300 (ASXL3)
Protein Structure
UniProt Annotation
Function Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Bainbridge-Ropers syndrome (BRPS) [MIM:615485]: A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. {ECO:0000269PubMed:23383720}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor. {ECO:0000269PubMed:15138607}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR011011 Zinc finger, FYVE/PHD-type
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9C0F0
PhosphoSite PhosphoSite-Q9C0F0
TrEMBL K7EQY1
UniProt Splice Variant
Entrez Gene 80816
UniGene Hs.608090
RefSeq NP_085135
HUGO HGNC:29357
OMIM 615115
CCDS CCDS45847
HPRD
IMGT
EMBL AB051500 AC010798 AC023192 AC090989 AK056450 AK131454 AL133050
GenPept BAB21804 BAB71186 BAD18599 CAB61377

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca