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O96028

- NSD2_HUMAN

UniProt

O96028 - NSD2_HUMAN

Protein

Histone-lysine N-methyltransferase NSD2

Gene

WHSC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.3 Publications

    Catalytic activityi

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi453 – 52169HMG boxPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri667 – 71347PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri714 – 77057PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri831 – 87545PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1239 – 128648PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. DNA binding Source: UniProtKB-KW
    3. histone-lysine N-methyltransferase activity Source: UniProtKB-EC
    4. protein binding Source: IntAct
    5. zinc ion binding Source: InterPro

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. atrial septum primum morphogenesis Source: Ensembl
    3. atrial septum secundum morphogenesis Source: Ensembl
    4. bone development Source: Ensembl
    5. membranous septum morphogenesis Source: Ensembl
    6. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    7. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chromatin regulator, Methyltransferase, Transferase

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Histone-lysine N-methyltransferase NSD2 (EC:2.1.1.43)
    Alternative name(s):
    Multiple myeloma SET domain-containing protein
    Short name:
    MMSET
    Nuclear SET domain-containing protein 2
    Short name:
    NSD2
    Protein trithorax-5
    Wolf-Hirschhorn syndrome candidate 1 protein
    Short name:
    WHSC1
    Gene namesi
    Name:WHSC1
    Synonyms:KIAA1090, MMSET, NSD2, TRX5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:12766. WHSC1.

    Subcellular locationi

    Nucleus 2 PublicationsPROSITE-ProRule annotation. Chromosome Curated

    GO - Cellular componenti

    1. chromosome Source: UniProtKB-SubCell
    2. cytoplasm Source: UniProtKB-SubCell
    3. nuclear membrane Source: HPA
    4. nucleolus Source: HPA
    5. nucleus Source: HPA

    Keywords - Cellular componenti

    Chromosome, Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.
    WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    Orphaneti280. Wolf-Hirschhorn syndrome.
    PharmGKBiPA37369.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13651365Histone-lysine N-methyltransferase NSD2PRO_0000259519Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei110 – 1101Phosphothreonine1 Publication
    Modified residuei114 – 1141Phosphothreonine1 Publication
    Modified residuei121 – 1211Phosphoserine2 Publications
    Modified residuei376 – 3761Phosphoserine1 Publication
    Modified residuei544 – 5441Phosphothreonine4 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO96028.
    PaxDbiO96028.
    PRIDEiO96028.

    PTM databases

    PhosphoSiteiO96028.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    ArrayExpressiO96028.
    BgeeiO96028.
    GenevestigatoriO96028.

    Organism-specific databases

    HPAiHPA015315.
    HPA015801.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARP102755EBI-2693298,EBI-608057

    Protein-protein interaction databases

    BioGridi113306. 134 interactions.
    DIPiDIP-57224N.
    IntActiO96028. 2 interactions.
    MINTiMINT-7103764.

    Structurei

    3D structure databases

    ProteinModelPortaliO96028.
    SMRiO96028. Positions 216-286, 667-714, 716-748, 763-799, 833-873, 877-973, 976-1203, 1239-1327.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini222 – 28665PWWP 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini880 – 94263PWWP 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1011 – 106151AWSPROSITE-ProRule annotationAdd
    BLAST
    Domaini1063 – 1180118SETPROSITE-ProRule annotationAdd
    BLAST
    Domaini1187 – 120317Post-SETPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation
    Contains 1 AWS domain.PROSITE-ProRule annotation
    Contains 1 HMG box DNA-binding 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 fingeri667 – 71347PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri714 – 77057PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri831 – 87545PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1239 – 128648PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG2940.
    HOVERGENiHBG053345.
    InParanoidiO96028.
    KOiK11424.
    OMAiPSKGKMM.
    OrthoDBiEOG7Z69BG.
    PhylomeDBiO96028.
    TreeFamiTF329088.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    3.30.40.10. 3 hits.
    InterProiIPR006560. AWS.
    IPR009071. HMG_box_dom.
    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]
    PfamiPF00505. HMG_box. 1 hit.
    PF00628. PHD. 1 hit.
    PF00855. PWWP. 2 hits.
    PF00856. SET. 1 hit.
    [Graphical view]
    SMARTiSM00570. AWS. 1 hit.
    SM00398. HMG. 1 hit.
    SM00249. PHD. 4 hits.
    SM00508. PostSET. 1 hit.
    SM00293. PWWP. 2 hits.
    SM00184. RING. 2 hits.
    SM00317. SET. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    SSF57903. SSF57903. 3 hits.
    PROSITEiPS51215. AWS. 1 hit.
    PS50118. HMG_BOX_2. 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 (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O96028-1) [UniParc]FASTAAdd to Basket

    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

    MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK     50
    AQLSSSLQEG VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF 100
    ESQEMKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDSAAD 150
    VSQSEENGQK PENKARRNRK RSIKYDSLLE QGLVEAALVS KISSPSDKKI 200
    PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV SADPLLHSYT 250
    KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 300
    APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG 350
    DQLHLNPQVA KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR 400
    RRAKLCSSAE TLESHPDIGK STPQKTAEAD PRRGVGSPPG RKKTTVSMPR 450
    SRKGDAASQF LVFCQKHRDE VVAEHPDASG EEIEELLRSQ WSLLSEKQRA 500
    RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE AEDTPRKRLR 550
    TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 600
    NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE 650
    VSVSSKKSER GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR 700
    PEGRFTCSEC ASGIHSCFVC KESKTDVKRC VVTQCGKFYH EACVKKYPLT 750
    VFESRGFRCP LHSCVSCHAS NPSNPRPSKG KMMRCVRCPV AYHSGDACLA 800
    AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG GSLLCCESCP 850
    AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 900
    PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG 950
    VRGIGRVFKN ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY 1000
    GKVQIYTADI SEIPKCNCKP TDENPCGFDS ECLNRMLMFE CHPQVCPAGE 1050
    FCQNQCFTKR QYPETKIIKT DGKGWGLVAK RDIRKGEFVN EYVGELIDEE 1100
    ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM NHSCQPNCET 1150
    LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 1200
    FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ 1250
    LVLCDRKFCT KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP 1300
    NSFCKEHQDG TAFSCTPDGR SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG 1350
    KRRRRRGWRR VTEGK 1365
    Length:1,365
    Mass (Da):152,258
    Last modified:May 1, 1999 - v1
    Checksum:i7B3128E1FA893AAA
    GO
    Isoform 2 (identifier: O96028-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-652: Missing.
         653-712: VSSKKSERGV...GRFTCSECAS → MAGSFCWRML...SLHPFFNFLL

    Show »
    Length:713
    Mass (Da):80,777
    Checksum:iA48D9FB6E1D06EB3
    GO
    Isoform 3 (identifier: O96028-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         628-647: VSDSPGDEPSESPYESADET → LLWEPTPVKLDLNPAALYCT
         648-1365: Missing.

    Show »
    Length:647
    Mass (Da):71,410
    Checksum:i84D0A99908BD7674
    GO
    Isoform 4 (identifier: O96028-4) [UniParc]FASTAAdd to Basket

    Also known as: REII-BP, IL-5 promoter REII-region-binding protein

    The sequence of this isoform differs from the canonical sequence as follows:
         1-781: Missing.

    Show »
    Length:584
    Mass (Da):66,387
    Checksum:iDEA3DCB455993E56
    GO
    Isoform 5 (identifier: O96028-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         629-629: S → K
         630-1365: Missing.

    Show »
    Length:629
    Mass (Da):69,398
    Checksum:iEC79BB4E13F1FA93
    GO
    Isoform 6 (identifier: O96028-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         472-484: VAEHPDASGEEIE → STKLCFMLASFRI
         485-1365: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:484
    Mass (Da):53,484
    Checksum:i80778F7E2CFB5C35
    GO
    Isoform 7 (identifier: O96028-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         255-273: QKKSARQYHVQFFGDAPER → IFKSKKFEHLKTSQIVLKD
         274-1365: Missing.

    Show »
    Length:273
    Mass (Da):30,199
    Checksum:iB8091D5246B40A60
    GO

    Sequence cautioni

    The sequence BAA83042.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti210 – 2101T → A in AAU09264. (PubMed:15677557)Curated
    Isoform 2 (identifier: O96028-2)
    Sequence conflicti26 – 261M → V in BAA83042. (PubMed:10470851)Curated
    Sequence conflicti26 – 261M → V in AAI52413. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 781781Missing in isoform 4. 2 PublicationsVSP_021413Add
    BLAST
    Alternative sequencei1 – 652652Missing in isoform 2. 2 PublicationsVSP_021414Add
    BLAST
    Alternative sequencei255 – 27319QKKSA…DAPER → IFKSKKFEHLKTSQIVLKD in isoform 7. 1 PublicationVSP_021415Add
    BLAST
    Alternative sequencei274 – 13651092Missing in isoform 7. 1 PublicationVSP_021416Add
    BLAST
    Alternative sequencei472 – 48413VAEHP…GEEIE → STKLCFMLASFRI in isoform 6. 1 PublicationVSP_021417Add
    BLAST
    Alternative sequencei485 – 1365881Missing in isoform 6. 1 PublicationVSP_021418Add
    BLAST
    Alternative sequencei628 – 64720VSDSP…SADET → LLWEPTPVKLDLNPAALYCT in isoform 3. 4 PublicationsVSP_021419Add
    BLAST
    Alternative sequencei629 – 6291S → K in isoform 5. 1 PublicationVSP_021420
    Alternative sequencei630 – 1365736Missing in isoform 5. 1 PublicationVSP_021421Add
    BLAST
    Alternative sequencei648 – 1365718Missing in isoform 3. 4 PublicationsVSP_021422Add
    BLAST
    Alternative sequencei653 – 71260VSSKK…SECAS → MAGSFCWRMLGLVSKVGNRA RCFSSMAASEEELLDFSGSE LQFNSCSLHLSLHPFFNFLL in isoform 2. 2 PublicationsVSP_021423Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071593 mRNA. Translation: AAC24150.1.
    AF071594 mRNA. Translation: AAC24151.1.
    AF083386 mRNA. Translation: AAD19343.1.
    AF083387 mRNA. Translation: AAD21770.1.
    AF083388 mRNA. Translation: AAD21771.1.
    AF083389 mRNA. Translation: AAD19344.1.
    AF083390 mRNA. Translation: AAD19345.1.
    AF083391 mRNA. Translation: AAD19346.1.
    AF178206
    , AF178199, AF178198, AF178202, AF178204, AF178205, AF178203, AF178201, AF178200 Genomic DNA. Translation: AAF23369.1.
    AF178219
    , AF178198, AF178199, AF178200, AF178202, AF178204, AF178207, AF178216, AF178215, AF178214, AF178213, AF178212, AF178211, AF178210, AF178209, AF178208, AF178218, AF178217, AF178205, AF178203, AF178201 Genomic DNA. Translation: AAF23370.1.
    AF330040 mRNA. Translation: AAK00344.1.
    AY694128 mRNA. Translation: AAU09264.1.
    AJ007042 mRNA. Translation: CAB45386.1.
    AB029013 mRNA. Translation: BAA83042.2. Different initiation.
    AK289697 mRNA. Translation: BAF82386.1.
    AC105448 Genomic DNA. No translation available.
    AL132868 Genomic DNA. Translation: CAM15220.1.
    AL132868 Genomic DNA. Translation: CAM15221.1.
    AL132868 Genomic DNA. Translation: CAM15222.1.
    CH471131 Genomic DNA. Translation: EAW82548.1.
    CH471131 Genomic DNA. Translation: EAW82552.1.
    CH471131 Genomic DNA. Translation: EAW82557.1.
    CH471131 Genomic DNA. Translation: EAW82553.1.
    CH471131 Genomic DNA. Translation: EAW82556.1.
    BC052254 mRNA. Translation: AAH52254.1.
    BC070176 mRNA. Translation: AAH70176.1.
    BC094825 mRNA. Translation: AAH94825.2.
    BC141815 mRNA. Translation: AAI41816.1.
    BC152412 mRNA. Translation: AAI52413.1.
    CCDSiCCDS3356.1. [O96028-3]
    CCDS33940.1. [O96028-1]
    CCDS46999.1. [O96028-5]
    RefSeqiNP_001035889.1. NM_001042424.2. [O96028-1]
    NP_015627.1. NM_007331.1. [O96028-5]
    NP_579877.1. NM_133330.2. [O96028-1]
    NP_579878.1. NM_133331.2. [O96028-1]
    NP_579889.1. NM_133334.2. [O96028-3]
    NP_579890.1. NM_133335.3. [O96028-1]
    XP_005248058.1. XM_005248001.2. [O96028-1]
    XP_005248062.1. XM_005248005.1. [O96028-3]
    XP_006713977.1. XM_006713914.1. [O96028-3]
    XP_006713978.1. XM_006713915.1. [O96028-4]
    UniGeneiHs.113876.

    Genome annotation databases

    EnsembliENST00000312087; ENSP00000308780; ENSG00000109685. [O96028-3]
    ENST00000353275; ENSP00000329167; ENSG00000109685. [O96028-3]
    ENST00000382888; ENSP00000372344; ENSG00000109685. [O96028-2]
    ENST00000382891; ENSP00000372347; ENSG00000109685. [O96028-1]
    ENST00000382892; ENSP00000372348; ENSG00000109685. [O96028-1]
    ENST00000382895; ENSP00000372351; ENSG00000109685. [O96028-1]
    ENST00000398261; ENSP00000381311; ENSG00000109685. [O96028-3]
    ENST00000420906; ENSP00000399251; ENSG00000109685. [O96028-5]
    ENST00000436793; ENSP00000416725; ENSG00000109685. [O96028-7]
    ENST00000503128; ENSP00000425761; ENSG00000109685. [O96028-3]
    ENST00000508803; ENSP00000423972; ENSG00000109685. [O96028-1]
    ENST00000512700; ENSP00000427516; ENSG00000109685. [O96028-7]
    ENST00000514045; ENSP00000421681; ENSG00000109685. [O96028-5]
    GeneIDi7468.
    KEGGihsa:7468.
    UCSCiuc003gdx.3. human. [O96028-6]
    uc003gdy.1. human. [O96028-5]
    uc003gdz.4. human. [O96028-1]
    uc003geg.1. human. [O96028-7]
    uc003geh.1. human. [O96028-3]
    uc003gei.4. human. [O96028-4]
    uc010icf.3. human. [O96028-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071593 mRNA. Translation: AAC24150.1 .
    AF071594 mRNA. Translation: AAC24151.1 .
    AF083386 mRNA. Translation: AAD19343.1 .
    AF083387 mRNA. Translation: AAD21770.1 .
    AF083388 mRNA. Translation: AAD21771.1 .
    AF083389 mRNA. Translation: AAD19344.1 .
    AF083390 mRNA. Translation: AAD19345.1 .
    AF083391 mRNA. Translation: AAD19346.1 .
    AF178206
    , AF178199 , AF178198 , AF178202 , AF178204 , AF178205 , AF178203 , AF178201 , AF178200 Genomic DNA. Translation: AAF23369.1 .
    AF178219
    , AF178198 , AF178199 , AF178200 , AF178202 , AF178204 , AF178207 , AF178216 , AF178215 , AF178214 , AF178213 , AF178212 , AF178211 , AF178210 , AF178209 , AF178208 , AF178218 , AF178217 , AF178205 , AF178203 , AF178201 Genomic DNA. Translation: AAF23370.1 .
    AF330040 mRNA. Translation: AAK00344.1 .
    AY694128 mRNA. Translation: AAU09264.1 .
    AJ007042 mRNA. Translation: CAB45386.1 .
    AB029013 mRNA. Translation: BAA83042.2 . Different initiation.
    AK289697 mRNA. Translation: BAF82386.1 .
    AC105448 Genomic DNA. No translation available.
    AL132868 Genomic DNA. Translation: CAM15220.1 .
    AL132868 Genomic DNA. Translation: CAM15221.1 .
    AL132868 Genomic DNA. Translation: CAM15222.1 .
    CH471131 Genomic DNA. Translation: EAW82548.1 .
    CH471131 Genomic DNA. Translation: EAW82552.1 .
    CH471131 Genomic DNA. Translation: EAW82557.1 .
    CH471131 Genomic DNA. Translation: EAW82553.1 .
    CH471131 Genomic DNA. Translation: EAW82556.1 .
    BC052254 mRNA. Translation: AAH52254.1 .
    BC070176 mRNA. Translation: AAH70176.1 .
    BC094825 mRNA. Translation: AAH94825.2 .
    BC141815 mRNA. Translation: AAI41816.1 .
    BC152412 mRNA. Translation: AAI52413.1 .
    CCDSi CCDS3356.1. [O96028-3 ]
    CCDS33940.1. [O96028-1 ]
    CCDS46999.1. [O96028-5 ]
    RefSeqi NP_001035889.1. NM_001042424.2. [O96028-1 ]
    NP_015627.1. NM_007331.1. [O96028-5 ]
    NP_579877.1. NM_133330.2. [O96028-1 ]
    NP_579878.1. NM_133331.2. [O96028-1 ]
    NP_579889.1. NM_133334.2. [O96028-3 ]
    NP_579890.1. NM_133335.3. [O96028-1 ]
    XP_005248058.1. XM_005248001.2. [O96028-1 ]
    XP_005248062.1. XM_005248005.1. [O96028-3 ]
    XP_006713977.1. XM_006713914.1. [O96028-3 ]
    XP_006713978.1. XM_006713915.1. [O96028-4 ]
    UniGenei Hs.113876.

    3D structure databases

    ProteinModelPortali O96028.
    SMRi O96028. Positions 216-286, 667-714, 716-748, 763-799, 833-873, 877-973, 976-1203, 1239-1327.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113306. 134 interactions.
    DIPi DIP-57224N.
    IntActi O96028. 2 interactions.
    MINTi MINT-7103764.

    PTM databases

    PhosphoSitei O96028.

    Proteomic databases

    MaxQBi O96028.
    PaxDbi O96028.
    PRIDEi O96028.

    Protocols and materials databases

    DNASUi 7468.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312087 ; ENSP00000308780 ; ENSG00000109685 . [O96028-3 ]
    ENST00000353275 ; ENSP00000329167 ; ENSG00000109685 . [O96028-3 ]
    ENST00000382888 ; ENSP00000372344 ; ENSG00000109685 . [O96028-2 ]
    ENST00000382891 ; ENSP00000372347 ; ENSG00000109685 . [O96028-1 ]
    ENST00000382892 ; ENSP00000372348 ; ENSG00000109685 . [O96028-1 ]
    ENST00000382895 ; ENSP00000372351 ; ENSG00000109685 . [O96028-1 ]
    ENST00000398261 ; ENSP00000381311 ; ENSG00000109685 . [O96028-3 ]
    ENST00000420906 ; ENSP00000399251 ; ENSG00000109685 . [O96028-5 ]
    ENST00000436793 ; ENSP00000416725 ; ENSG00000109685 . [O96028-7 ]
    ENST00000503128 ; ENSP00000425761 ; ENSG00000109685 . [O96028-3 ]
    ENST00000508803 ; ENSP00000423972 ; ENSG00000109685 . [O96028-1 ]
    ENST00000512700 ; ENSP00000427516 ; ENSG00000109685 . [O96028-7 ]
    ENST00000514045 ; ENSP00000421681 ; ENSG00000109685 . [O96028-5 ]
    GeneIDi 7468.
    KEGGi hsa:7468.
    UCSCi uc003gdx.3. human. [O96028-6 ]
    uc003gdy.1. human. [O96028-5 ]
    uc003gdz.4. human. [O96028-1 ]
    uc003geg.1. human. [O96028-7 ]
    uc003geh.1. human. [O96028-3 ]
    uc003gei.4. human. [O96028-4 ]
    uc010icf.3. human. [O96028-2 ]

    Organism-specific databases

    CTDi 7468.
    GeneCardsi GC04P001840.
    GeneReviewsi WHSC1.
    HGNCi HGNC:12766. WHSC1.
    HPAi HPA015315.
    HPA015801.
    MIMi 602952. gene.
    neXtProti NX_O96028.
    Orphaneti 280. Wolf-Hirschhorn syndrome.
    PharmGKBi PA37369.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2940.
    HOVERGENi HBG053345.
    InParanoidi O96028.
    KOi K11424.
    OMAi PSKGKMM.
    OrthoDBi EOG7Z69BG.
    PhylomeDBi O96028.
    TreeFami TF329088.

    Miscellaneous databases

    ChiTaRSi WHSC1. human.
    GeneWikii WHSC1.
    GenomeRNAii 7468.
    NextBioi 29246.
    PROi O96028.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O96028.
    Bgeei O96028.
    Genevestigatori O96028.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    3.30.40.10. 3 hits.
    InterProi IPR006560. AWS.
    IPR009071. HMG_box_dom.
    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 PF00505. HMG_box. 1 hit.
    PF00628. PHD. 1 hit.
    PF00855. PWWP. 2 hits.
    PF00856. SET. 1 hit.
    [Graphical view ]
    SMARTi SM00570. AWS. 1 hit.
    SM00398. HMG. 1 hit.
    SM00249. PHD. 4 hits.
    SM00508. PostSET. 1 hit.
    SM00293. PWWP. 2 hits.
    SM00184. RING. 2 hits.
    SM00317. SET. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    SSF57903. SSF57903. 3 hits.
    PROSITEi PS51215. AWS. 1 hit.
    PS50118. HMG_BOX_2. 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. "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts."
      Chesi M., Nardini E., Lim R.S.C., Smith K.D., Kuehl W.M., Bergsagel P.L.
      Blood 92:3025-3034(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), CHROMOSOMAL TRANSLOCATION WITH IGH.
      Tissue: Myeloma.
    2. "WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma."
      Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A., van Haeringen A., Moorman A.F.M., Altherr M.R., den Dunnen J.T.
      Hum. Mol. Genet. 7:1071-1082(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3 AND 5), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH IGH.
    3. "A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription."
      Garlisi C.G., Uss A.S., Xiao H., Tian F., Sheridan K.E., Wang L., Motasim Billah M., Egan R.W., Stranick K.S., Umland S.P.
      Am. J. Respir. Cell Mol. Biol. 24:90-98(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, DNA-BINDING.
    4. "Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients."
      Keats J.J., Maxwell C.A., Taylor B.J., Hendzel M.J., Chesi M., Bergsagel P.L., Larratt L.M., Mant M.J., Reiman T., Belch A.R., Pilarski L.M.
      Blood 105:4060-4069(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), SUBCELLULAR LOCATION.
    5. "Mammalian trithorax- and ASH1-like proteins: putative chromatin regulators which contain PHD fingers and SET domains."
      Angrand P.-O., Valvatne H., Jeanmougin F., Adamson A., van der Hoeven F., Olsen L., Tekotte H., Huang N., Poch O., Lamerdin J., Chambon P., Losson R., Stewart A., Aasland R.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Amygdala.
    8. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 6).
      Tissue: Ovary and Spleen.
    11. "Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts."
      Malgeri U., Baldini L., Perfetti V., Fabris S., Vignarelli M.C., Colombo G., Lotti V., Compasso S., Bogni S., Lombardi L., Maiolo A.T., Neri A.
      Cancer Res. 60:4058-4061(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
    12. "Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis."
      Perfetti V., Coluccia A.M., Intini D., Malgeri U., Vignarelli M.C., Casarini S., Merlini G., Neri A.
      Am. J. Pathol. 158:1599-1603(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
    13. "A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript."
      Santra M., Zhan F., Tian E., Barlogie B., Shaughnessy J. Jr.
      Blood 101:2374-2376(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
    14. "Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation."
      Intini D., Fabris S., Storlazzi T., Otsuki T., Ciceri G., Verdelli D., Lombardi L., Rocchi M., Neri A.
      Br. J. Haematol. 126:437-439(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
    15. "Identification of ID-1 as a potential target gene of MMSET in multiple myeloma."
      Hudlebusch H.R., Theilgaard-Moench K., Lodahl M., Johnsen H.E., Rasmussen T.
      Br. J. Haematol. 130:700-708(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    16. "Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma."
      Todoerti K., Ronchetti D., Agnelli L., Castellani S., Marelli S., Deliliers G.L., Zanella A., Lombardi L., Neri A.
      Br. J. Haematol. 131:214-218(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    17. Cited for: INVOLVEMENT IN WHS.
    18. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    19. "Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity."
      Kim J.Y., Kee H.J., Choe N.W., Kim S.M., Eom G.H., Baek H.J., Kook H., Kook H., Seo S.B.
      Mol. Cell. Biol. 28:2023-2034(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY.
    20. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-121 AND THR-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    21. "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].
    22. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-110; THR-114; SER-121; SER-376 AND THR-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    23. "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-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiNSD2_HUMAN
    AccessioniPrimary (citable) accession number: O96028
    Secondary accession number(s): A2A2T2
    , A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 130 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3