Version 5.4
Homo sapiens Gene: WHSC1
Summary
InnateDB Gene IDBG-7100.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WHSC1
Gene Name Wolf-Hirschhorn syndrome candidate 1
Synonyms MMSET; NSD2; REIIBP; TRX5; WHS
Species Homo sapiens
Ensembl Gene ENSG00000109685
Encoded Proteins
IDBP-7102
Wolf-Hirschhorn syndrome candidate 1
IDBP-7106
Wolf-Hirschhorn syndrome candidate 1
IDBP-7108
Wolf-Hirschhorn syndrome candidate 1
IDBP-7110
Wolf-Hirschhorn syndrome candidate 1
IDBP-7112
Wolf-Hirschhorn syndrome candidate 1
IDBP-7116
Wolf-Hirschhorn syndrome candidate 1
IDBP-233384
Wolf-Hirschhorn syndrome candidate 1
IDBP-360899
Wolf-Hirschhorn syndrome candidate 1
IDBP-360900
Wolf-Hirschhorn syndrome candidate 1
IDBP-480691
Wolf-Hirschhorn syndrome candidate 1
IDBP-475317
Wolf-Hirschhorn syndrome candidate 1
IDBP-476059
Wolf-Hirschhorn syndrome candidate 1
IDBP-475549
Wolf-Hirschhorn syndrome candidate 1
IDBP-474326
Wolf-Hirschhorn syndrome candidate 1
IDBP-480016
Wolf-Hirschhorn syndrome candidate 1
IDBP-483394
Wolf-Hirschhorn syndrome candidate 1
IDBP-479439
Wolf-Hirschhorn syndrome candidate 1
IDBP-476380
Wolf-Hirschhorn syndrome candidate 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:1871424-1982207
Strand Forward strand
Band p16.3
Transcripts
ENST00000353275 ENSP00000329167
ENST00000382895 ENSP00000372351
ENST00000382892 ENSP00000372348
ENST00000312087 ENSP00000308780
ENST00000382891 ENSP00000372347
ENST00000382888 ENSP00000372344
ENST00000398261 ENSP00000381311
ENST00000420906 ENSP00000399251
ENST00000436793 ENSP00000416725
ENST00000508803 ENSP00000423972
ENST00000507820 ENSP00000421551
ENST00000508355
ENST00000514045 ENSP00000421681
ENST00000515806 ENSP00000427434
ENST00000503128 ENSP00000425761
ENST00000509115 ENSP00000422878
ENST00000512700 ENSP00000427516
ENST00000511904 ENSP00000424482
ENST00000513726
ENST00000482415
ENST00000514329 ENSP00000425094
ENST00000502425
ENST00000505643
ENST00000503207
ENST00000507094
ENST00000515695
ENST00000508299
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:0003682 chromatin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0003149 membranous septum morphogenesis
GO:0003289 atrial septum primum morphogenesis
GO:0003290 atrial septum secundum morphogenesis
GO:0006351 transcription, DNA-templated
GO:0009653 anatomical structure morphogenesis
GO:0016568 chromatin modification
GO:0034968 histone lysine methylation
GO:0060348 bone development
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0031965 nuclear membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000057406
View Gene Order
ENSBTAG00000007986
Not yet available
Pathways
NETPATH
NetPath_2
AndrogenReceptor pathway
REACTOME
KEGG
hsa00310
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.113876
RefSeq NM_001042424 NM_007331 NM_133330 NM_133331 NM_133334 NM_133335 XM_005248001 XM_005248005 XM_006713914 XM_006713915
HUGO
OMIM
CCDS CCDS3356 CCDS33940 CCDS46999
HPRD 04259
IMGT
EMBL
GenPept
RNA Seq Atlas

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