• Gene id: 54904

Gene Summary

• Gene Symbol: NSD3   Gene   UCSC   Ensembl
• Aliases: KMT3F, KMT3G, WHISTLE, WHSC1L1, pp14328
• Gene name: nuclear receptor binding SET domain protein 3
• Alternate names: histone-lysine N-methyltransferase NSD3, WHSC1-like 1 isoform 9 with methyltransferase activity to lysine, Wolf-Hirschhorn syndrome candidate 1-like 1, nuclear SET domain-containing protein 3, protein whistle,
• Gene location: 8p11.23 (38382271: 38269703)     Exons: 25     NC_000008.11
• Gene summary(Entrez): This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two
• OMIM: 607083

Protein Summary

• Protein general information: Q9BZ95  
  • Name: Histone lysine N methyltransferase NSD3 (EC 2.1.1. ) (Nuclear SET domain containing protein 3) (Protein whistle) (WHSC1 like 1 isoform 9 with methyltransferase activity to lysine) (Wolf Hirschhorn syndrome candidate 1 like protein 1) (WHSC1 like protein 1
  • Length: 1437  
  • Mass: 161613
  • Tissue specificity: Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. {ECO
• Sequence:

  MDFSFSFMQGIMGNTIQQPPQLIDSANIRQEDAFDNNSDIAEDGGQTPYEATLQQGFQYPATTEDLPPLTNGYPS
  SISVYETQTKYQSYNQYPNGSANGFGAVRNFSPTDYYHSEIPNTRPHEILEKPSPPQPPPPPSVPQTVIPKKTGS
  PEIKLKITKTIQNGRELFESSLCGDLLNEVQASEHTKSKHESRKEKRKKSNKHDSSRSEERKSHKIPKLEPEEQN
  RPNERVDTVSEKPREEPVLKEEAPVQPILSSVPTTEVSTGVKFQVGDLVWSKVGTYPWWPCMVSSDPQLEVHTKI
  NTRGAREYHVQFFSNQPERAWVHEKRVREYKGHKQYEELLAEATKQASNHSEKQKIRKPRPQRERAQWDIGIAHA
  EKALKMTREERIEQYTFIYIDKQPEEALSQAKKSVASKTEVKKTRRPRSVLNTQPEQTNAGEVASSLSSTEIRRH
  SQRRHTSAEEEEPPPVKIAWKTAAARKSLPASITMHKGSLDLQKCNMSPVVKIEQVFALQNATGDGKFIDQFVYS
  TKGIGNKTEISVRGQDRLIISTPNQRNEKPTQSVSSPEATSGSTGSVEKKQQRRSIRTRSESEKSTEVVPKKKIK
  KEQVETVPQATVKTGLQKGASEISDSCKPLKKRSRASTDVEMTSSAYRDTSDSDSRGLSDLQVGFGKQVDSPSAT
  ADADVSDVQSMDSSLSRRGTGMSKKDTVCQICESSGDSLIPCEGECCKHFHLECLGLASLPDSKFICMECKTGQH
  PCFSCKVSGKDVKRCSVGACGKFYHEACVRKFPTAIFESKGFRCPQHCCSACSMEKDIHKASKGRMMRCLRCPVA
  YHSGDACIAAGSMLVSSYILICSNHSKRSSNSSAVNVGFCFVCARGLIVQDHSDPMFSSYAYKSHYLLNESNRAE
  LMKLPMIPSSSASKKKCEKGGRLLCCESCPASFHPECLSIEMPEGCWNCNDCKAGKKLHYKQIVWVKLGNYRWWP
  AEICNPRSVPLNIQGLKHDLGDFPVFFFGSHDYYWVHQGRVFPYVEGDKSFAEGQTSINKTFKKALEEAAKRFQE
  LKAQRESKEALEIEKNSRKPPPYKHIKANKVIGKVQIQVADLSEIPRCNCKPADENPCGLESECLNRMLQYECHP
  QVCPAGDRCQNQCFTKRLYPDAEIIKTERRGWGLRTKRSIKKGEFVNEYVGELIDEEECRLRIKRAHENSVTNFY
  MLTVTKDRIIDAGPKGNYSRFMNHSCNPNCETQKWTVNGDVRVGLFALCDIPAGMELTFNYNLDCLGNGRTECHC
  GADNCSGFLGVRPKSACASTNEEKAKNAKLKQKRRKIKTEPKQMHEDYCFQCGDGGELVMCDKKDCPKAYHLLCL
  NLTQPPYGKWECPWHQCDECSSAAVSFCEFCPHSFCKDHEKGALVPSALEGRLCCSEHDPMAPVSPEYWSKIKCK
  WESQDHGEEVKE

• Structural information:
  • Protein Domains: (270..33-)
    (/note="PWWP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (960..102-)
    (/note="PWWP-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (1093..114-)
    (/note="AWS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00562-)
    (-)
  • Interpro: IPR006560  IPR041306  IPR003616  IPR000313  IPR001214   IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51215 PS50868 PS50812 PS50280 PS01359 PS50016
  • PDB: 2DAQ 2NCZ 2ND1 4GND 4GNE 4GNF 4GNG 4RXJ 5UPD 6CEN 6G24 6G25 6G27 6G29 6G2B 6G2C 6G2E 6G2F 6G2O 6G3P 6G3T
  • PDBsum: 2DAQ 2NCZ 2ND1 4GND 4GNE 4GNF 4GNG 4RXJ 5UPD 6CEN 6G24 6G25 6G27 6G29 6G2B 6G2C 6G2E 6G2F 6G2O 6G3P 6G3T
  • DIP: 62074
  • STRING: ENSP00000313983
• Other Databases: GeneCards:  NSD3  Malacards:  NSD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IBA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032259	methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0010452	histone H3-K36 methylation	IEA	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0016571	histone methylation	IDA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:2001255	positive regulation of histone H3-K36 trimethylation	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
myeloid leukemia	PMID:11986249
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq