Gene/Proteome Database (LMPD)

LMPD ID
LMP004502
Gene ID
64324
Species
Homo sapiens (Human)
Gene Name
nuclear receptor binding SET domain protein 1
Gene Symbol
NSD1
Synonyms
ARA267; KMT3B; SOTOS; SOTOS1; STO
Alternate Names
histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; H3-K36-HMTase; H4-K20-HMTase; lysine N-methyltransferase 3B; NR-binding SET domain-containing protein; androgen receptor-associated coregulator 267; androgen receptor coactivator 267 kDa protein; androgen receptor-associated protein of 267 kDa; nuclear receptor-binding SET domain-containing protein 1
Chromosome
5
Map Location
5q35
EC Number
2.1.1.43
Summary
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 enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for NSD1

Proteins

histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform a
Refseq ID NP_758859
Protein GI 27477095
UniProt ID Q96L73
mRNA ID NM_172349
Length 2427
RefSeq Status REVIEWED
MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRPYRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSKWEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLAFDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISGDISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALISKCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAEPGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKGGAANQALLHSKSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLNNMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIPIEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGGSTHNSEKKGDGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRNCGRSKPSSKLRDAFSAQMVKNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRGGAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSVMNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGRDEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQAELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLARGRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPEVSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGHLENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEGELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECVQKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPEGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFGSNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFKKKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPPVPLPPGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPERPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKPQTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLIDLTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAAAPSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQAKQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIVAGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK
histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform b
Refseq ID NP_071900
Protein GI 19923586
UniProt ID Q96L73
mRNA ID NM_022455
Length 2696
RefSeq Status REVIEWED
MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESIEEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRPYRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSKWEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLAFDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISGDISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALISKCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAEPGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKGGAANQALLHSKSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLNNMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIPIEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGGSTHNSEKKGDGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRNCGRSKPSSKLRDAFSAQMVKNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRGGAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSVMNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGRDEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQAELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLARGRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPEVSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGHLENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEGELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECVQKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPEGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFGSNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFKKKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPPVPLPPGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPERPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKPQTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLIDLTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAAAPSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQAKQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIVAGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK

Gene Information

Entrez Gene ID
64324
Gene Name
nuclear receptor binding SET domain protein 1
Gene Symbol
NSD1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005694 IEA:UniProtKB-KW C chromosome
GO:0005634 IEA:UniProtKB-KW C nucleus
GO:0050681 IDA:UniProtKB F androgen receptor binding
GO:0003682 ISS:UniProtKB F chromatin binding
GO:0030331 ISS:UniProtKB F estrogen receptor binding
GO:0046975 IDA:UniProtKB F histone methyltransferase activity (H3-K36 specific)
GO:0042799 ISS:UniProtKB F histone methyltransferase activity (H4-K20 specific)
GO:0042974 ISS:UniProtKB F retinoic acid receptor binding
GO:0046965 ISS:UniProtKB F retinoid X receptor binding
GO:0046966 ISS:UniProtKB F thyroid hormone receptor binding
GO:0003712 IDA:UniProtKB F transcription cofactor activity
GO:0003714 ISS:UniProtKB F transcription corepressor activity
GO:0008270 IDA:UniProtKB F zinc ion binding
GO:0001702 IEA:Ensembl P gastrulation with mouth forming second
GO:0010452 IDA:GOC P histone H3-K36 methylation
GO:0034770 ISS:GOC P histone H4-K20 methylation
GO:0016571 ISS:UniProtKB P histone methylation
GO:0000122 ISS:UniProtKB P negative regulation of transcription from RNA polymerase II promoter
GO:0045893 IDA:UniProtKB P positive regulation of transcription, DNA-templated
GO:0006351 IEA:UniProtKB-KW P transcription, DNA-templated

KEGG Pathway Links

KEGG Pathway ID Description
hsa00310 Lysine degradation
ko00310 Lysine degradation

Domain Information

InterPro Annotations

Accession Description
IPR006560 AWS domain
IPR000313 PWWP domain
IPR003616 Post-SET domain
IPR001214 SET domain
IPR011011 Zinc finger, FYVE/PHD-type
IPR019787 Zinc finger, PHD-finger
IPR001965 Zinc finger, PHD-type
IPR019786 Zinc finger, PHD-type, conserved site
IPR001841 Zinc finger, RING-type
IPR013083 Zinc finger, RING/FYVE/PHD-type

UniProt Annotations

Entry Information

Gene Name
nuclear receptor binding SET domain protein 1
Protein Entry
NSD1_HUMAN
UniProt ID
Q96L73
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ARA267-beta; IsoId=Q96L73-1; Sequence=Displayed; Name=2; Synonyms=ARA267-alpha; IsoId=Q96L73-2; Sequence=VSP_007682, VSP_007683; Name=3; IsoId=Q96L73-3; Sequence=VSP_007684;
Catalytic Activity S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Disease Beckwith-Wiedemann syndrome (BWS) [MIM
Disease 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.
Disease Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
Disease Sotos syndrome 1 (SOTOS1) [MIM
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.
Similarity Belongs to the class V-like SAM-binding methyltransferase superfamily. {ECO
Similarity Contains 1 AWS domain. {ECO
Similarity Contains 1 SET domain. {ECO
Similarity Contains 1 post-SET domain. {ECO
Similarity Contains 2 PWWP domains. {ECO
Similarity Contains 4 PHD-type zinc fingers.
Subcellular Location Nucleus. Chromosome .
Subunit Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- and ligand-binding domains. {ECO
Tissue Specificity Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
Web Resource Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NSD1ID356.html";

Identical and Related Proteins

Unique RefSeq proteins for LMP004502 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
27477095 RefSeq NP_758859 2427 histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform a
19923586 RefSeq NP_071900 2696 histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform b

Identical Sequences to LMP004502 proteins

Reference Database Accession Length Protein Name
GI:27477095 GenBank AAL27991.1 2427 androgen receptor-associated coregulator 267-a [Homo sapiens]
GI:27477095 GenBank EAW85031.1 2427 nuclear receptor binding SET domain protein 1, isoform CRA_a [Homo sapiens]
GI:19923586 GenBank EAW85032.1 2696 nuclear receptor binding SET domain protein 1, isoform CRA_b [Homo sapiens]
GI:19923586 GenBank ABZ63004.1 2696 Sequence 4 from patent US 7323301
GI:19923586 GenBank AHD78576.1 2696 Sequence 26574 from patent US 8586006
GI:27477095 GenBank AHD78577.1 2427 Sequence 26575 from patent US 8586006
GI:19923586 RefSeq XP_005266016.1 2696 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X1 [Homo sapiens]
GI:27477095 RefSeq XP_005266017.1 2427 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X2 [Homo sapiens]
GI:27477095 RefSeq XP_005266018.1 2427 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X3 [Homo sapiens]
GI:19923586 RefSeq XP_006714964.1 2696 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X5 [Homo sapiens]
GI:27477095 RefSeq XP_006714965.1 2427 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X6 [Homo sapiens]
GI:19923586 SwissProt Q96L73.1 2696 RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; AltName: Full=Androgen receptor coactivator 267 kDa protein; AltName: Full=Androgen receptor-associated protein of 267 kDa; AltName: Full=H3-K36-HMTase; AltName: Full=H4-K20-HMTase; AltName: Full=Lysine N-methyltransferase 3B; AltName: Full=Nuclear receptor-binding SET domain-containing protein 1; Short=NR-binding SET domain-containing protein [Homo sapiens]

Related Sequences to LMP004502 proteins

Reference Database Accession Length Protein Name
GI:27477095 GenBank AAL06645.1 2696 androgen receptor associated coregulator 267-b [Homo sapiens]
GI:27477095 GenBank EAW85032.1 2696 nuclear receptor binding SET domain protein 1, isoform CRA_b [Homo sapiens]
GI:27477095 GenBank AAI50629.1 2427 Nuclear receptor binding SET domain protein 1 [Homo sapiens]
GI:19923586 GenBank JAA18026.1 2697 nuclear receptor binding SET domain protein 1 [Pan troglodytes]
GI:19923586 GenBank JAA30528.1 2697 nuclear receptor binding SET domain protein 1 [Pan troglodytes]
GI:19923586 GenBank JAA39913.1 2697 nuclear receptor binding SET domain protein 1 [Pan troglodytes]
GI:19923586 RefSeq XP_527132.2 2697 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific [Pan troglodytes]
GI:19923586 RefSeq XP_003806901.1 2697 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X1 [Pan paniscus]
GI:27477095 RefSeq XP_005266016.1 2696 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X1 [Homo sapiens]
GI:27477095 RefSeq XP_006714964.1 2696 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X5 [Homo sapiens]
GI:19923586 RefSeq XP_008956458.1 2697 PREDICTED: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform X1 [Pan paniscus]
GI:27477095 SwissProt Q96L73.1 2696 RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; AltName: Full=Androgen receptor coactivator 267 kDa protein; AltName: Full=Androgen receptor-associated protein of 267 kDa; AltName: Full=H3-K36-HMTase; AltName: Full=H4-K20-HMTase; AltName: Full=Lysine N-methyltransferase 3B; AltName: Full=Nuclear receptor-binding SET domain-containing protein 1; Short=NR-binding SET domain-containing protein [Homo sapiens]