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Q96L73

- NSD1_HUMAN

UniProt

Q96L73 - NSD1_HUMAN

Protein

Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Gene

NSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Catalytic activityi

    S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei2065 – 20651S-adenosyl-L-methionine1 PublicationPROSITE-ProRule annotation
    Binding sitei2071 – 20711S-adenosyl-L-methionine1 PublicationPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri1543 – 158947PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1590 – 164657PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1707 – 175145PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri2118 – 216548PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. androgen receptor binding Source: UniProtKB
    2. chromatin binding Source: UniProtKB
    3. estrogen receptor binding Source: UniProtKB
    4. histone methyltransferase activity (H3-K36 specific) Source: UniProtKB
    5. histone methyltransferase activity (H4-K20 specific) Source: UniProtKB
    6. retinoic acid receptor binding Source: UniProtKB
    7. retinoid X receptor binding Source: UniProtKB
    8. thyroid hormone receptor binding Source: UniProtKB
    9. transcription cofactor activity Source: UniProtKB
    10. transcription corepressor activity Source: UniProtKB
    11. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. gastrulation with mouth forming second Source: Ensembl
    2. histone H3-K36 methylation Source: GOC
    3. histone H4-K20 methylation Source: GOC
    4. histone methylation Source: UniProtKB
    5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    6. positive regulation of transcription, DNA-templated Source: UniProtKB
    7. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Chromatin regulator, Methyltransferase, Repressor, Transferase

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    Metal-binding, S-adenosyl-L-methionine, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific (EC:2.1.1.43)
    Alternative name(s):
    Androgen receptor coactivator 267 kDa protein
    Androgen receptor-associated protein of 267 kDa
    H3-K36-HMTase
    H4-K20-HMTase
    Lysine N-methyltransferase 3B
    Nuclear receptor-binding SET domain-containing protein 1
    Short name:
    NR-binding SET domain-containing protein
    Gene namesi
    Name:NSD1
    Synonyms:ARA267, KMT3B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:14234. NSD1.

    Subcellular locationi

    GO - Cellular componenti

    1. chromosome Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Chromosome, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1616 – 16161H → L in SOTOS1. 1 Publication
    VAR_015780
    Natural varianti1637 – 16371L → P in SOTOS1. 1 Publication
    VAR_015781
    Natural varianti1674 – 16741C → W in SOTOS1. 1 Publication
    VAR_015782
    Natural varianti1687 – 16871I → N in SOTOS1. 1 Publication
    VAR_015783
    Natural varianti1792 – 17921G → V in SOTOS1. 1 Publication
    VAR_015784
    Natural varianti1925 – 19251C → R in SOTOS1. 1 Publication
    VAR_015785
    Natural varianti1955 – 19551G → D in SOTOS1. 1 Publication
    VAR_015786
    Natural varianti1984 – 19841R → Q in SOTOS1; loss of enzyme activity. 1 Publication
    VAR_015787
    Natural varianti1997 – 19971Y → C in SOTOS1. 1 Publication
    VAR_015788
    Natural varianti2005 – 20051R → Q in SOTOS1; strongly reduced enzyme activity. 1 Publication
    VAR_015789
    Natural varianti2017 – 20171R → Q in SOTOS1; loss of enzyme activity. 1 Publication
    VAR_015790
    Natural varianti2017 – 20171R → W in SOTOS1. 1 Publication
    VAR_015791
    Natural varianti2143 – 21431H → Q in SOTOS1. 1 Publication
    VAR_015792
    Natural varianti2183 – 21831C → S in SOTOS1. 1 Publication
    VAR_015793
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
    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.1 Publication

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi1914 – 19141R → C: Reduced enzyme activity. 1 Publication
    Mutagenesisi1952 – 19521R → W: Nearly abolished enzyme activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi117550. phenotype.
    130650. phenotype.
    Orphaneti228415. 5q35 microduplication syndrome.
    238613. Beckwith-Wiedemann syndrome due to NSD1 mutation.
    821. Sotos syndrome.
    3447. Weaver syndrome.
    PharmGKBiPA31790.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 26962696Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificPRO_0000186070Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei483 – 4831Phosphoserine1 Publication
    Modified residuei486 – 4861Phosphoserine1 Publication
    Modified residuei766 – 7661Phosphoserine1 Publication
    Modified residuei2462 – 24621Phosphothreonine1 Publication
    Modified residuei2471 – 24711Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96L73.
    PaxDbiQ96L73.
    PRIDEiQ96L73.

    PTM databases

    PhosphoSiteiQ96L73.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ96L73.
    BgeeiQ96L73.
    CleanExiHS_NSD1.
    GenevestigatoriQ96L73.

    Interactioni

    Subunit structurei

    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.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi122135. 8 interactions.
    DIPiDIP-58517N.
    IntActiQ96L73. 2 interactions.
    STRINGi9606.ENSP00000348031.

    Structurei

    Secondary structure

    1
    2696
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1852 – 186312
    Helixi1889 – 18913
    Beta strandi1901 – 19033
    Helixi1912 – 19154
    Turni1922 – 19243
    Helixi1928 – 19303
    Helixi1935 – 19384
    Beta strandi1944 – 19485
    Beta strandi1950 – 196011
    Beta strandi1967 – 19704
    Beta strandi1973 – 19764
    Helixi1978 – 199013
    Beta strandi1998 – 20025
    Beta strandi2005 – 20139
    Helixi2015 – 20184
    Beta strandi2026 – 20349
    Beta strandi2037 – 204610

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3OOIX-ray1.75A1852-2082[»]
    ProteinModelPortaliQ96L73.
    SMRiQ96L73. Positions 324-389, 1542-1589, 1591-1637, 1706-1748, 1753-1850, 1852-2082, 2118-2210.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini323 – 38866PWWP 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1756 – 181863PWWP 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1890 – 194051AWSPROSITE-ProRule annotationAdd
    BLAST
    Domaini1942 – 2059118SETPROSITE-ProRule annotationAdd
    BLAST
    Domaini2066 – 208217Post-SETPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1952 – 19543S-adenosyl-L-methionine binding
    Regioni1994 – 19974S-adenosyl-L-methionine binding
    Regioni2020 – 20212S-adenosyl-L-methionine binding
    Regioni2060 – 20667Inhibits enzyme activity in the absence of bound histone

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2207 – 2421215Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation
    Contains 1 AWS domain.PROSITE-ProRule annotation
    Contains 4 PHD-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 post-SET domain.PROSITE-ProRule annotation
    Contains 2 PWWP domains.PROSITE-ProRule annotation
    Contains 1 SET domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri1543 – 158947PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1590 – 164657PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1707 – 175145PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri2118 – 216548PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG2940.
    HOGENOMiHOG000113857.
    HOVERGENiHBG007518.
    InParanoidiQ96L73.
    KOiK15588.
    OMAiECRTGIH.
    OrthoDBiEOG7Z69BG.
    PhylomeDBiQ96L73.
    TreeFamiTF329088.

    Family and domain databases

    Gene3Di3.30.40.10. 3 hits.
    InterProiIPR006560. AWS.
    IPR003616. Post-SET_dom.
    IPR000313. PWWP_dom.
    IPR001214. SET_dom.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF00628. PHD. 1 hit.
    PF00855. PWWP. 2 hits.
    PF00856. SET. 1 hit.
    [Graphical view]
    SMARTiSM00570. AWS. 1 hit.
    SM00249. PHD. 5 hits.
    SM00508. PostSET. 1 hit.
    SM00293. PWWP. 2 hits.
    SM00184. RING. 1 hit.
    SM00317. SET. 1 hit.
    [Graphical view]
    SUPFAMiSSF57903. SSF57903. 3 hits.
    PROSITEiPS51215. AWS. 1 hit.
    PS50868. POST_SET. 1 hit.
    PS50812. PWWP. 2 hits.
    PS50280. SET. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96L73-1) [UniParc]FASTAAdd to Basket

    Also known as: ARA267-beta

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDQTCELPRR NCLLPFSNPV NLDAPEDKDS PFGNGQSNFS EPLNGCTMQL     50
    STVSGTSQNA YGQDSPSCYI PLRRLQDLAS MINVEYLNGS ADGSESFQDP 100
    EKSDSRAQTP IVCTSLSPGG PTALAMKQEP SCNNSPELQV KVTKTIKNGF 150
    LHFENFTCVD DADVDSEMDP EQPVTEDESI EEIFEETQTN ATCNYETKSE 200
    NGVKVAMGSE QDSTPESRHG AVKSPFLPLA PQTETQKNKQ RNEVDGSNEK 250
    AALLPAPFSL GDTNITIEEQ LNSINLSFQD DPDSSTSTLG NMLELPGTSS 300
    SSTSQELPFC QPKKKSTPLK YEVGDLIWAK FKRRPWWPCR ICSDPLINTH 350
    SKMKVSNRRP YRQYYVEAFG DPSERAWVAG KAIVMFEGRH QFEELPVLRR 400
    RGKQKEKGYR HKVPQKILSK WEASVGLAEQ YDVPKGSKNR KCIPGSIKLD 450
    SEEDMPFEDC TNDPESEHDL LLNGCLKSLA FDSEHSADEK EKPCAKSRAR 500
    KSSDNPKRTS VKKGHIQFEA HKDERRGKIP ENLGLNFISG DISDTQASNE 550
    LSRIANSLTG SNTAPGSFLF SSCGKNTAKK EFETSNGDSL LGLPEGALIS 600
    KCSREKNKPQ RSLVCGSKVK LCYIGAGDEE KRSDSISICT TSDDGSSDLD 650
    PIEHSSESDN SVLEIPDAFD RTENMLSMQK NEKIKYSRFA ATNTRVKAKQ 700
    KPLISNSHTD HLMGCTKSAE PGTETSQVNL SDLKASTLVH KPQSDFTNDA 750
    LSPKFNLSSS ISSENSLIKG GAANQALLHS KSKQPKFRSI KCKHKENPVM 800
    AEPPVINEEC SLKCCSSDTK GSPLASISKS GKVDGLKLLN NMHEKTRDSS 850
    DIETAVVKHV LSELKELSYR SLGEDVSDSG TSKPSKPLLF SSASSQNHIP 900
    IEPDYKFSTL LMMLKDMHDS KTKEQRLMTA QNLVSYRSPG RGDCSTNSPV 950
    GVSKVLVSGG STHNSEKKGD GTQNSANPSP SGGDSALSGE LSASLPGLLS 1000
    DKRDLPASGK SRSDCVTRRN CGRSKPSSKL RDAFSAQMVK NTVNRKALKT 1050
    ERKRKLNQLP SVTLDAVLQG DRERGGSLRG GAEDPSKEDP LQIMGHLTSE 1100
    DGDHFSDVHF DSKVKQSDPG KISEKGLSFE NGKGPELDSV MNSENDELNG 1150
    VNQVVPKKRW QRLNQRRTKP RKRMNRFKEK ENSECAFRVL LPSDPVQEGR 1200
    DEFPEHRTPS ASILEEPLTE QNHADCLDSA GPRLNVCDKS SASIGDMEKE 1250
    PGIPSLTPQA ELPEPAVRSE KKRLRKPSKW LLEYTEEYDQ IFAPKKKQKK 1300
    VQEQVHKVSS RCEEESLLAR GRSSAQNKQV DENSLISTKE EPPVLEREAP 1350
    FLEGPLAQSE LGGGHAELPQ LTLSVPVAPE VSPRPALESE ELLVKTPGNY 1400
    ESKRQRKPTK KLLESNDLDP GFMPKKGDLG LSKKCYEAGH LENGITESCA 1450
    TSYSKDFGGG TTKIFDKPRK RKRQRHAAAK MQCKKVKNDD SSKEIPGSEG 1500
    ELMPHRTATS PKETVEEGVE HDPGMPASKK MQGERGGGAA LKENVCQNCE 1550
    KLGELLLCEA QCCGAFHLEC LGLTEMPRGK FICNECRTGI HTCFVCKQSG 1600
    EDVKRCLLPL CGKFYHEECV QKYPPTVMQN KGFRCSLHIC ITCHAANPAN 1650
    VSASKGRLMR CVRCPVAYHA NDFCLAAGSK ILASNSIICP NHFTPRRGCR 1700
    NHEHVNVSWC FVCSEGGSLL CCDSCPAAFH RECLNIDIPE GNWYCNDCKA 1750
    GKKPHYREIV WVKVGRYRWW PAEICHPRAV PSNIDKMRHD VGEFPVLFFG 1800
    SNDYLWTHQA RVFPYMEGDV SSKDKMGKGV DGTYKKALQE AAARFEELKA 1850
    QKELRQLQED RKNDKKPPPY KHIKVNRPIG RVQIFTADLS EIPRCNCKAT 1900
    DENPCGIDSE CINRMLLYEC HPTVCPAGGR CQNQCFSKRQ YPEVEIFRTL 1950
    QRGWGLRTKT DIKKGEFVNE YVGELIDEEE CRARIRYAQE HDITNFYMLT 2000
    LDKDRIIDAG PKGNYARFMN HCCQPNCETQ KWSVNGDTRV GLFALSDIKA 2050
    GTELTFNYNL ECLGNGKTVC KCGAPNCSGF LGVRPKNQPI ATEEKSKKFK 2100
    KKQQGKRRTQ GEITKEREDE CFSCGDAGQL VSCKKPGCPK VYHADCLNLT 2150
    KRPAGKWECP WHQCDICGKE AASFCEMCPS SFCKQHREGM LFISKLDGRL 2200
    SCTEHDPCGP NPLEPGEIRE YVPPPVPLPP GPSTHLAEQS TGMAAQAPKM 2250
    SDKPPADTNQ MLSLSKKALA GTCQRPLLPE RPLERTDSRP QPLDKVRDLA 2300
    GSGTKSQSLV SSQRPLDRPP AVAGPRPQLS DKPSPVTSPS SSPSVRSQPL 2350
    ERPLGTADPR LDKSIGAASP RPQSLEKTSV PTGLRLPPPD RLLITSSPKP 2400
    QTSDRPTDKP HASLSQRLPP PEKVLSAVVQ TLVAKEKALR PVDQNTQSKN 2450
    RAALVMDLID LTPRQKERAA SPHQVTPQAD EKMPVLESSS WPASKGLGHM 2500
    PRAVEKGCVS DPLQTSGKAA APSEDPWQAV KSLTQARLLS QPPAKAFLYE 2550
    PTTQASGRAS AGAEQTPGPL SQSPGLVKQA KQMVGGQQLP ALAAKSGQSF 2600
    RSLGKAPASL PTEEKKLVTT EQSPWALGKA SSRAGLWPIV AGQTLAQSCW 2650
    SAGSTQTLAQ TCWSLGRGQD PKPEQNTLPA LNQAPSSHKC AESEQK 2696
    Length:2,696
    Mass (Da):296,652
    Last modified:December 1, 2001 - v1
    Checksum:i4E80E6DCD9A24C81
    GO
    Isoform 2 (identifier: Q96L73-2) [UniParc]FASTAAdd to Basket

    Also known as: ARA267-alpha

    The sequence of this isoform differs from the canonical sequence as follows:
         1-269: Missing.
         270-279: QLNSINLSFQ → MPLKTRTALS

    Show »
    Length:2,427
    Mass (Da):267,340
    Checksum:i396219A152666E8E
    GO
    Isoform 3 (identifier: Q96L73-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         310-412: Missing.

    Show »
    Length:2,593
    Mass (Da):284,264
    Checksum:iC8B8A25ECD80728A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1306 – 13061H → D in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1397 – 13971P → Q in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1478 – 14781A → V in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1959 – 19602KT → QE in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1963 – 19631K → R in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1982 – 19821R → M in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1986 – 19916RYAQEH → KHAHEN in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti1995 – 19951N → H in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2001 – 20011L → I in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2016 – 20161A → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2022 – 20221C → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2030 – 20301Q → L in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2033 – 20331S → T in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2045 – 20462LS → VC in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2049 – 20491K → P in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2061 – 20611E → D in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2066 – 20661G → E in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2071 – 20711K → R in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2075 – 20751P → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2304 – 23052TK → AQ in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2352 – 23521R → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2539 – 25391L → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2543 – 25431P → S in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2567 – 259125PGPLS…QQLPA → QGFFTKSPALVENKGKTKWV GRPTNYLH in AAK92049. (PubMed:11493482)CuratedAdd
    BLAST
    Sequence conflicti2597 – 25971G → W in AAK92049. (PubMed:11493482)Curated
    Sequence conflicti2608 – 26125ASLPT → PSSPN in AAK92049. (PubMed:11493482)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti614 – 6141V → L.1 Publication
    Corresponds to variant rs3733875 [ dbSNP | Ensembl ].
    VAR_015775
    Natural varianti691 – 6911A → T.1 Publication
    Corresponds to variant rs28932177 [ dbSNP | Ensembl ].
    VAR_015776
    Natural varianti726 – 7261S → P.2 Publications
    Corresponds to variant rs28932178 [ dbSNP | Ensembl ].
    VAR_015777
    Natural varianti1036 – 10361A → P.1 Publication
    Corresponds to variant rs28932179 [ dbSNP | Ensembl ].
    VAR_015778
    Natural varianti1091 – 10911L → I.1 Publication
    Corresponds to variant rs35597015 [ dbSNP | Ensembl ].
    VAR_015779
    Natural varianti1616 – 16161H → L in SOTOS1. 1 Publication
    VAR_015780
    Natural varianti1637 – 16371L → P in SOTOS1. 1 Publication
    VAR_015781
    Natural varianti1674 – 16741C → W in SOTOS1. 1 Publication
    VAR_015782
    Natural varianti1687 – 16871I → N in SOTOS1. 1 Publication
    VAR_015783
    Natural varianti1792 – 17921G → V in SOTOS1. 1 Publication
    VAR_015784
    Natural varianti1925 – 19251C → R in SOTOS1. 1 Publication
    VAR_015785
    Natural varianti1955 – 19551G → D in SOTOS1. 1 Publication
    VAR_015786
    Natural varianti1984 – 19841R → Q in SOTOS1; loss of enzyme activity. 1 Publication
    VAR_015787
    Natural varianti1997 – 19971Y → C in SOTOS1. 1 Publication
    VAR_015788
    Natural varianti2005 – 20051R → Q in SOTOS1; strongly reduced enzyme activity. 1 Publication
    VAR_015789
    Natural varianti2017 – 20171R → Q in SOTOS1; loss of enzyme activity. 1 Publication
    VAR_015790
    Natural varianti2017 – 20171R → W in SOTOS1. 1 Publication
    VAR_015791
    Natural varianti2143 – 21431H → Q in SOTOS1. 1 Publication
    VAR_015792
    Natural varianti2183 – 21831C → S in SOTOS1. 1 Publication
    VAR_015793
    Natural varianti2250 – 22501M → I.1 Publication
    Corresponds to variant rs35848863 [ dbSNP | Ensembl ].
    VAR_015794
    Natural varianti2261 – 22611M → T.1 Publication
    Corresponds to variant rs34165241 [ dbSNP | Ensembl ].
    VAR_015795

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 269269Missing in isoform 2. 1 PublicationVSP_007682Add
    BLAST
    Alternative sequencei270 – 27910QLNSINLSFQ → MPLKTRTALS in isoform 2. 1 PublicationVSP_007683
    Alternative sequencei310 – 412103Missing in isoform 3. 1 PublicationVSP_007684Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF380302 mRNA. Translation: AAL27991.1.
    AY049721 mRNA. Translation: AAL06645.1.
    AF395588 mRNA. Translation: AAL40694.1.
    AF322907 mRNA. Translation: AAK92049.1.
    CCDSiCCDS4412.1. [Q96L73-1]
    CCDS4413.1. [Q96L73-2]
    RefSeqiNP_071900.2. NM_022455.4. [Q96L73-1]
    NP_758859.1. NM_172349.2. [Q96L73-2]
    XP_005266016.1. XM_005265959.1. [Q96L73-1]
    XP_005266017.1. XM_005265960.1. [Q96L73-2]
    XP_005266018.1. XM_005265961.1. [Q96L73-2]
    XP_006714964.1. XM_006714901.1. [Q96L73-1]
    XP_006714965.1. XM_006714902.1. [Q96L73-2]
    UniGeneiHs.106861.

    Genome annotation databases

    EnsembliENST00000347982; ENSP00000343209; ENSG00000165671. [Q96L73-2]
    ENST00000354179; ENSP00000346111; ENSG00000165671. [Q96L73-2]
    ENST00000439151; ENSP00000395929; ENSG00000165671. [Q96L73-1]
    GeneIDi64324.
    KEGGihsa:64324.
    UCSCiuc003mfr.4. human. [Q96L73-1]
    uc003mfs.1. human. [Q96L73-3]
    uc003mft.4. human. [Q96L73-2]

    Polymorphism databases

    DMDMi32469769.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF380302 mRNA. Translation: AAL27991.1 .
    AY049721 mRNA. Translation: AAL06645.1 .
    AF395588 mRNA. Translation: AAL40694.1 .
    AF322907 mRNA. Translation: AAK92049.1 .
    CCDSi CCDS4412.1. [Q96L73-1 ]
    CCDS4413.1. [Q96L73-2 ]
    RefSeqi NP_071900.2. NM_022455.4. [Q96L73-1 ]
    NP_758859.1. NM_172349.2. [Q96L73-2 ]
    XP_005266016.1. XM_005265959.1. [Q96L73-1 ]
    XP_005266017.1. XM_005265960.1. [Q96L73-2 ]
    XP_005266018.1. XM_005265961.1. [Q96L73-2 ]
    XP_006714964.1. XM_006714901.1. [Q96L73-1 ]
    XP_006714965.1. XM_006714902.1. [Q96L73-2 ]
    UniGenei Hs.106861.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3OOI X-ray 1.75 A 1852-2082 [» ]
    ProteinModelPortali Q96L73.
    SMRi Q96L73. Positions 324-389, 1542-1589, 1591-1637, 1706-1748, 1753-1850, 1852-2082, 2118-2210.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122135. 8 interactions.
    DIPi DIP-58517N.
    IntActi Q96L73. 2 interactions.
    STRINGi 9606.ENSP00000348031.

    PTM databases

    PhosphoSitei Q96L73.

    Polymorphism databases

    DMDMi 32469769.

    Proteomic databases

    MaxQBi Q96L73.
    PaxDbi Q96L73.
    PRIDEi Q96L73.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000347982 ; ENSP00000343209 ; ENSG00000165671 . [Q96L73-2 ]
    ENST00000354179 ; ENSP00000346111 ; ENSG00000165671 . [Q96L73-2 ]
    ENST00000439151 ; ENSP00000395929 ; ENSG00000165671 . [Q96L73-1 ]
    GeneIDi 64324.
    KEGGi hsa:64324.
    UCSCi uc003mfr.4. human. [Q96L73-1 ]
    uc003mfs.1. human. [Q96L73-3 ]
    uc003mft.4. human. [Q96L73-2 ]

    Organism-specific databases

    CTDi 64324.
    GeneCardsi GC05P176560.
    GeneReviewsi NSD1.
    HGNCi HGNC:14234. NSD1.
    MIMi 117550. phenotype.
    130650. phenotype.
    606681. gene.
    neXtProti NX_Q96L73.
    Orphaneti 228415. 5q35 microduplication syndrome.
    238613. Beckwith-Wiedemann syndrome due to NSD1 mutation.
    821. Sotos syndrome.
    3447. Weaver syndrome.
    PharmGKBi PA31790.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2940.
    HOGENOMi HOG000113857.
    HOVERGENi HBG007518.
    InParanoidi Q96L73.
    KOi K15588.
    OMAi ECRTGIH.
    OrthoDBi EOG7Z69BG.
    PhylomeDBi Q96L73.
    TreeFami TF329088.

    Miscellaneous databases

    ChiTaRSi NSD1. human.
    GenomeRNAii 64324.
    NextBioi 66241.
    PROi Q96L73.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96L73.
    Bgeei Q96L73.
    CleanExi HS_NSD1.
    Genevestigatori Q96L73.

    Family and domain databases

    Gene3Di 3.30.40.10. 3 hits.
    InterProi IPR006560. AWS.
    IPR003616. Post-SET_dom.
    IPR000313. PWWP_dom.
    IPR001214. SET_dom.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF00628. PHD. 1 hit.
    PF00855. PWWP. 2 hits.
    PF00856. SET. 1 hit.
    [Graphical view ]
    SMARTi SM00570. AWS. 1 hit.
    SM00249. PHD. 5 hits.
    SM00508. PostSET. 1 hit.
    SM00293. PWWP. 2 hits.
    SM00184. RING. 1 hit.
    SM00317. SET. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57903. SSF57903. 3 hits.
    PROSITEi PS51215. AWS. 1 hit.
    PS50868. POST_SET. 1 hit.
    PS50812. PWWP. 2 hits.
    PS50280. SET. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells."
      Wang X., Yeh S., Wu G., Hsu C.-L., Wang L., Chang T., Yang Y., Guo Y., Chang C.
      J. Biol. Chem. 276:40417-40423(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH AR.
    2. "Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene."
      Kurotaki N., Harada N., Yoshiura K., Sugano S., Niikawa N., Matsumoto N.
      Gene 279:197-204(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia."
      Jaju R.J., Fidler C., Haas O.A., Strickson A.J., Watkins F., Clark K., Cross N.C., Cheng J.F., Aplan P.D., Kearney L., Boultwood J., Wainscoat J.S.
      Blood 98:1264-1267(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), CHROMOSOMAL TRANSLOCATION WITH NUP98.
    4. Cited for: INVOLVEMENT IN SOTOS1.
    5. "Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome."
      Baujat G., Rio M., Rossignol S., Sanlaville D., Lyonnet S., Le Merrer M., Munnich A., Gicquel C., Cormier-Daire V., Colleaux L.
      Am. J. Hum. Genet. 74:715-720(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SOTOS1 AND BWS.
    6. "Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts."
      La Starza R., Gorello P., Rosati R., Riezzo A., Veronese A., Ferrazzi E., Martelli M.F., Negrini M., Mecucci C.
      Genes Chromosomes Cancer 41:395-399(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MYELODYSPLASTIC SYNDROME.
    7. "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
      Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.
      Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Prostate cancer.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2471, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2462, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483 AND SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation."
      Qiao Q., Li Y., Chen Z., Wang M., Reinberg D., Xu R.M.
      J. Biol. Chem. 286:8361-8368(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 1852-2082 IN COMPLEX WITH S-ADENOSYL-L-METHIONINE AND ZINC IONS, FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF ARG-1914 AND ARG-1952, CHARACTERIZATION OF SOTOS1 VARIANTS GLN-1984; GLN-2005 AND GLN-2017.
    14. "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes."
      Douglas J., Hanks S., Temple I.K., Davies S., Murray A., Upadhyaya M., Tomkins S., Hughes H.E., Cole T.R.P., Rahman N.
      Am. J. Hum. Genet. 72:132-143(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SOTOS1 LEU-1616; PRO-1637; TRP-1674; VAL-1792; ARG-1925; GLN-2005; GLN-2017; GLN-2143 AND SER-2183, VARIANTS LEU-614; THR-691; PRO-726; PRO-1036; ILE-1091; ILE-2250 AND THR-2261.
    15. Cited for: VARIANTS SOTOS1 ASN-1687; ASP-1955; GLN-1984; CYS-1997 AND TRP-2017.
    16. Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-726.

    Entry informationi

    Entry nameiNSD1_HUMAN
    AccessioniPrimary (citable) accession number: Q96L73
    Secondary accession number(s): Q96PD8, Q96RN7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 3, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3