Version 5.4
Homo sapiens Protein: WHSC1
Summary
InnateDB Protein IDBP-7102.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WHSC1
Protein Name Wolf-Hirschhorn syndrome candidate 1
Synonyms MMSET; NSD2; REIIBP; TRX5; WHS;
Species Homo sapiens
Ensembl Protein ENSP00000329167
InnateDB Gene IDBG-7100 (WHSC1)
Protein Structure
UniProt Annotation
Function Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. {ECO:0000269PubMed:11152655, ECO:0000269PubMed:16115125, ECO:0000269PubMed:18172012}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00267, ECO:0000269PubMed:15677557, ECO:0000269PubMed:16197452}. Chromosome {ECO:0000305}.Isoform 4: Cytoplasm.
Disease Associations Note=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.Note=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:9618163}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 25 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0009653 anatomical structure morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0031965 nuclear membrane
Protein Structure and Domains
PDB ID
InterPro IPR000313 PWWP domain
IPR009071 High mobility group box domain
PFAM PF00855
PF00505
PF09011
PRINTS
PIRSF
SMART SM00293
SM00398
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O96028
PhosphoSite PhosphoSite-O96028
TrEMBL D6RIS1
UniProt Splice Variant
Entrez Gene 7468
UniGene Hs.113876
RefSeq
HUGO HGNC:12766
OMIM 602952
CCDS CCDS3356
HPRD 04259
IMGT
EMBL AB029013 AC105448 AF071593 AF071594 AF083386 AF083387 AF083388 AF083389 AF083390 AF083391 AF178198 AF178199 AF178200 AF178201 AF178202 AF178203 AF178204 AF178205 AF178206 AF178207 AF178208 AF178209 AF178210 AF178211 AF178212 AF178213 AF178214 AF178215 AF178216 AF178217 AF178218 AF178219 AF330040 AJ007042 AK289697 AL132868 AY694128 BC052254 BC070176 BC094825 BC141815 BC152412 CH471131
GenPept AAC24150 AAC24151 AAD19343 AAD19344 AAD19345 AAD19346 AAD21770 AAD21771 AAF23369 AAF23370 AAH52254 AAH70176 AAH94825 AAI41816 AAI52413 AAK00344 AAU09264 BAA83042 BAF82386 CAB45386 CAM15220 CAM15221 CAM15222 EAW82548 EAW82552 EAW82553 EAW82556 EAW82557

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