InnateDB Protein
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IDBP-360900.5
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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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WHSC1
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Protein Name
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Wolf-Hirschhorn syndrome candidate 1
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Synonyms
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MMSET; NSD2; REIIBP; TRX5; WHS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000416725
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InnateDB Gene
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IDBG-7100 (WHSC1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00267, ECO:0000269PubMed:15677557, ECO:0000269PubMed:16197452}. Chromosome {ECO:0000305}.Isoform 4: Cytoplasm.
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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.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:9618163}.
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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 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]
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Protein-DNA |
1
[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 |
10 [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 |
IPR000313
PWWP domain
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PFAM |
PF00855
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PRINTS |
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PIRSF |
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SMART |
SM00293
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TIGRFAMs |
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Modification |
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SwissProt |
O96028
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PhosphoSite |
PhosphoSite-O96028
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TrEMBL |
D6RIS1
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UniProt Splice Variant |
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Entrez Gene |
7468
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UniGene |
Hs.113876
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RefSeq |
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HUGO |
HGNC:12766
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OMIM |
602952
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CCDS |
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HPRD |
04259
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IMGT |
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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
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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
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