• Gene id: 64324

Gene Summary

• Gene Symbol: NSD1   Gene   UCSC   Ensembl
• Aliases: ARA267, KMT3B, SOTOS, SOTOS1, STO
• Gene name: nuclear receptor binding SET domain protein 1
• Alternate names: histone-lysine N-methyltransferase, H3 lysine-36 specific, histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, H3-K36-HMTase, H4-K20-HMTase, NR-binding SET domain-containing protein, androgen receptor coactivator 267 kDa protein, androge,
• Gene location: 5q35.3 (177131834: 177300212)     Exons: 31     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this
• OMIM: 606681

Protein Summary

• Protein general information: Q96L73  
  • Name: Histone lysine N methyltransferase, H3 lysine 36 specific (EC 2.1.1.357) (Androgen receptor coactivator 267 kDa protein) (Androgen receptor associated protein of 267 kDa) (H3 K36 HMTase) (Lysine N methyltransferase 3B) (Nuclear receptor binding SET domain
  • Length: 2696  
  • Mass: 296652
  • Tissue specificity: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
• Sequence:

  MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYIPLRRL
  QDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQVKVTKTIKNGF
  LHFENFTCVDDADVDSEMDPEQPVTEDESIEEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSP
  FLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSS
  SSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRPYRQYYVEAFGDPSER
  AWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSKWEASVGLAEQYDVPKGSKNRKCIPGSIKLD
  SEEDMPFEDCTNDPESEHDLLLNGCLKSLAFDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDER
  RGKIPENLGLNFISGDISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALIS
  KCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEIPDAFDRTENM
  LSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAEPGTETSQVNLSDLKASTLVHKPQSDFTNDA
  LSPKFNLSSSISSENSLIKGGAANQALLHSKSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLA
  SISKSGKVDGLKLLNNMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIP
  IEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGGSTHNSEKKGDGTQNS
  ANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRNCGRSKPSSKLRDAFSAQMVKNTVNRKALKT
  ERKRKLNQLPSVTLDAVLQGDRERGGSLRGGAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEK
  GLSFENGKGPELDSVMNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGR
  DEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQAELPEPAVRSEKKRLR
  KPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLARGRSSAQNKQVDENSLISTKEEPPVLEREAP
  FLEGPLAQSELGGGHAELPQLTLSVPVAPEVSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPK
  KGDLGLSKKCYEAGHLENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEG
  ELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEAQCCGAFHLECLGLTE
  MPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECVQKYPPTVMQNKGFRCSLHICITCHAANPAN
  VSASKGRLMRCVRCPVAYHANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSC
  PAAFHRECLNIDIPEGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFG
  SNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKV
  NRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTL
  QRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQP
  NCETQKWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFK
  KKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDICGKEAASFC
  EMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPPVPLPPGPSTHLAEQSTGMAAQAPKM
  SDKPPADTNQMLSLSKKALAGTCQRPLLPERPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGP
  RPQLSDKPSPVTSPSSSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKP
  QTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLIDLTPRQKERAASPHQV
  TPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAAAPSEDPWQAVKSLTQARLLSQPPAKAFLYE
  PTTQASGRASAGAEQTPGPLSQSPGLVKQAKQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPW
  ALGKASSRAGLWPIVAGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK

• Structural information:
  • Protein Domains: (323..38-)
    (/note="PWWP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (1756..181-)
    (/note="PWWP-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (1890..194-)
    (/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: 3OOI
  • PDBsum: 3OOI
  • DIP: 58517
  • STRING: ENSP00000395929
• Other Databases: GeneCards:  NSD1  Malacards:  NSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IBA	molecular function
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1903025	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP	biological process
GO:0033135	regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0000414	regulation of histone H3-K36 methylation	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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:0010452	histone H3-K36 methylation	IEA	biological process
GO:0010452	histone H3-K36 methylation	IEA	biological process
GO:0010452	histone H3-K36 methylation	IEA	biological process
GO:0034770	histone H4-K20 methylation	IEA	biological process
GO:0003712	transcription coregulator activity	IDA	molecular function
GO:0050681	androgen receptor binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0042974	retinoic acid receptor binding	ISS	molecular function
GO:0030331	estrogen receptor binding	ISS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0046975	histone methyltransferase activity (H3-K36 specific)	ISS	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	ISS	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0046966	thyroid hormone receptor binding	ISS	molecular function
GO:0046965	retinoid X receptor binding	ISS	molecular function
GO:0003714	transcription corepressor activity	ISS	molecular function
GO:0016571	histone methylation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Beckwith-Wiedemann syndrome	KEGG:H00713
Sotos syndrome	KEGG:H00718
Beckwith-Wiedemann syndrome	KEGG:H00713
Sotos syndrome	KEGG:H00718
Microcephaly	PMID:23599694
Sotos syndrome	PMID:14571271
neuroblastoma	PMID:20018718
acute myeloid leukemia	PMID:23630019
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray