InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NSD1

Summary

InnateDB Protein

IDBP-381971.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NSD1

Protein Name

nuclear receptor binding SET domain protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000395929

InnateDB Gene

IDBG-59534 (NSD1)

Protein Structure

UniProt Annotation

Function

Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. {ECO:0000269PubMed:21196496}.

Subcellular Localization

Nucleus. Chromosome {ECO:0000305}.

Disease Associations

Sotos syndrome 1 (SOTOS1) [MIM:117550]: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. {ECO:0000269PubMed:11896389, ECO:0000269PubMed:12464997, ECO:0000269PubMed:12807965}. Note=The disease is caused by mutations affecting the gene represented in this entry.Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. {ECO:0000269PubMed:14997421}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.Note=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product. {ECO:0000269PubMed:15382262}.

Tissue Specificity

Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003712	transcription cofactor activity
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0018024	histone-lysine N-methyltransferase activity
GO:0030331	estrogen receptor binding
GO:0042054	histone methyltransferase activity
GO:0042799	histone methyltransferase activity (H4-K20 specific)
GO:0042974	retinoic acid receptor binding
GO:0046965	retinoid X receptor binding
GO:0046966	thyroid hormone receptor binding
GO:0046975	histone methyltransferase activity (H3-K36 specific)
GO:0050681	androgen receptor binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001702	gastrulation with mouth forming second
GO:0006351	transcription, DNA-templated
GO:0010452	histone H3-K36 methylation
GO:0016571	histone methylation
GO:0034770	histone H4-K20 methylation
GO:0045893	positive regulation of transcription, DNA-templated

Cellular Component

GO:0005634	nucleus
GO:0005694	chromosome

Protein Structure and Domains

PDB ID

InterPro

IPR000313 PWWP domain
IPR001214 SET domain
IPR001965 Zinc finger, PHD-type
IPR003616 Post-SET domain
IPR006560 AWS domain
IPR011011 Zinc finger, FYVE/PHD-type
IPR019787 Zinc finger, PHD-finger

PFAM

PF00855
PF00856
PF00628

PRINTS

PIRSF

SMART

SM00293
SM00317
SM00249
SM00508
SM00570

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96L73