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Q9BZ95

- NSD3_HUMAN

UniProt

Q9BZ95 - NSD3_HUMAN

Protein

Histone-lysine N-methyltransferase NSD3

Gene

WHSC1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.1 Publication

    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
    Zinc fingeri701 – 74848PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri749 – 80557PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri862 – 95594PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1321 – 136848PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. histone-lysine N-methyltransferase activity Source: UniProtKB
    2. protein binding Source: IntAct
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. histone lysine methylation Source: GOC
    2. histone methylation Source: UniProtKB
    3. regulation of transcription, DNA-templated Source: UniProtKB-KW
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chromatin regulator, Methyltransferase, 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 NSD3 (EC:2.1.1.43)
    Alternative name(s):
    Nuclear SET domain-containing protein 3
    Protein whistle
    WHSC1-like 1 isoform 9 with methyltransferase activity to lysine
    Wolf-Hirschhorn syndrome candidate 1-like protein 1
    Short name:
    WHSC1-like protein 1
    Gene namesi
    Name:WHSC1L1
    Synonyms:NSD3
    ORF Names:DC28
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:12767. WHSC1L1.

    Subcellular locationi

    Nucleus By similarity. Chromosome By similarity

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Chromosome, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Defects in WHSC1L1 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC.
    A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    PharmGKBiPA37370.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14371437Histone-lysine N-methyltransferase NSD3PRO_0000259521Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei150 – 1501Phosphoserine1 Publication
    Modified residuei790 – 7901N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9BZ95.
    PaxDbiQ9BZ95.
    PRIDEiQ9BZ95.

    PTM databases

    PhosphoSiteiQ9BZ95.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung.1 Publication

    Gene expression databases

    ArrayExpressiQ9BZ95.
    BgeeiQ9BZ95.
    GenevestigatoriQ9BZ95.

    Organism-specific databases

    HPAiCAB013721.
    HPA005659.
    HPA018893.

    Interactioni

    Subunit structurei

    Interacts with BRD4.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DAXXQ9UER72EBI-3390132,EBI-77321
    HOXC4P090172EBI-3390132,EBI-3923226
    MNDAP412182EBI-3390132,EBI-2829677
    SLU7O953912EBI-3390132,EBI-750559

    Protein-protein interaction databases

    BioGridi120250. 19 interactions.
    IntActiQ9BZ95. 16 interactions.
    MINTiMINT-4830664.

    Structurei

    Secondary structure

    1
    1437
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi960 – 9678
    Beta strandi969 – 9713
    Beta strandi973 – 9786
    Turni981 – 9833
    Helixi986 – 9894
    Beta strandi998 – 10025
    Turni1003 – 10064
    Beta strandi1007 – 10115
    Beta strandi1013 – 10186
    Beta strandi1025 – 10273
    Helixi1036 – 105217
    Turni1325 – 13273
    Beta strandi1331 – 13355
    Helixi1348 – 13503
    Beta strandi1357 – 13593
    Helixi1363 – 13653
    Turni1368 – 13703
    Beta strandi1375 – 13773
    Beta strandi1379 – 13824
    Turni1387 – 13893
    Turni1391 – 13933
    Turni1398 – 14014

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DAQNMR-A957-1053[»]
    4GNDX-ray2.27A/C1310-1413[»]
    4GNEX-ray1.47A1310-1413[»]
    4GNFX-ray1.55A1310-1413[»]
    4GNGX-ray1.73A/D1310-1413[»]
    ProteinModelPortaliQ9BZ95.
    SMRiQ9BZ95. Positions 266-332, 700-834, 919-1285, 1316-1413.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9BZ95.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini270 – 33364PWWP 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini960 – 102263PWWP 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1093 – 114351AWSPROSITE-ProRule annotationAdd
    BLAST
    Domaini1145 – 1262118SETPROSITE-ProRule annotationAdd
    BLAST
    Domaini1269 – 128517Post-SETPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1033 – 106937Sequence AnalysisAdd
    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 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 fingeri701 – 74848PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri749 – 80557PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri862 – 95594PHD-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1321 – 136848PHD-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG2940.
    HOVERGENiHBG079979.
    InParanoidiQ9BZ95.
    KOiK11425.
    OMAiMEKDIHK.
    OrthoDBiEOG7Z69BG.
    PhylomeDBiQ9BZ95.
    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]
    PfamiPF00855. 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. 2 hits.
    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. 1 hit.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BZ95-1) [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

    MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE     50
    ATLQQGFQYP ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF 100
    GAVRNFSPTD YYHSEIPNTR PHEILEKPSP PQPPPPPSVP QTVIPKKTGS 150
    PEIKLKITKT IQNGRELFES SLCGDLLNEV QASEHTKSKH ESRKEKRKKS 200
    NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE EPVLKEEAPV 250
    QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI 300
    NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH 350
    SEKQKIRKPR PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE 400
    EALSQAKKSV ASKTEVKKTR RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH 450
    SQRRHTSAEE EEPPPVKIAW KTAAARKSLP ASITMHKGSL DLQKCNMSPV 500
    VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ DRLIISTPNQ 550
    RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK 600
    KEQVETVPQA TVKTGLQKGA SEISDSCKPL KKRSRASTDV EMTSSAYRDT 650
    SDSDSRGLSD LQVGFGKQVD SPSATADADV SDVQSMDSSL SRRGTGMSKK 700
    DTVCQICESS GDSLIPCEGE CCKHFHLECL GLASLPDSKF ICMECKTGQH 750
    PCFSCKVSGK DVKRCSVGAC GKFYHEACVR KFPTAIFESK GFRCPQHCCS 800
    ACSMEKDIHK ASKGRMMRCL RCPVAYHSGD ACIAAGSMLV SSYILICSNH 850
    SKRSSNSSAV NVGFCFVCAR GLIVQDHSDP MFSSYAYKSH YLLNESNRAE 900
    LMKLPMIPSS SASKKKCEKG GRLLCCESCP ASFHPECLSI EMPEGCWNCN 950
    DCKAGKKLHY KQIVWVKLGN YRWWPAEICN PRSVPLNIQG LKHDLGDFPV 1000
    FFFGSHDYYW VHQGRVFPYV EGDKSFAEGQ TSINKTFKKA LEEAAKRFQE 1050
    LKAQRESKEA LEIEKNSRKP PPYKHIKANK VIGKVQIQVA DLSEIPRCNC 1100
    KPADENPCGL ESECLNRMLQ YECHPQVCPA GDRCQNQCFT KRLYPDAEII 1150
    KTERRGWGLR TKRSIKKGEF VNEYVGELID EEECRLRIKR AHENSVTNFY 1200
    MLTVTKDRII DAGPKGNYSR FMNHSCNPNC ETQKWTVNGD VRVGLFALCD 1250
    IPAGMELTFN YNLDCLGNGR TECHCGADNC SGFLGVRPKS ACASTNEEKA 1300
    KNAKLKQKRR KIKTEPKQMH EDYCFQCGDG GELVMCDKKD CPKAYHLLCL 1350
    NLTQPPYGKW ECPWHQCDEC SSAAVSFCEF CPHSFCKDHE KGALVPSALE 1400
    GRLCCSEHDP MAPVSPEYWS KIKCKWESQD HGEEVKE 1437
    Length:1,437
    Mass (Da):161,613
    Last modified:June 1, 2001 - v1
    Checksum:i87E54997A996F7CC
    GO
    Isoform 2 (identifier: Q9BZ95-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         871-919: Missing.

    Show »
    Length:1,388
    Mass (Da):156,070
    Checksum:i0832BD51DAB0DCFF
    GO
    Isoform 3 (identifier: Q9BZ95-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         620-645: ASEISDSCKPLKKRSRASTDVEMTSS → SADRGVQGSVRFSDSSVSAAIEETVD
         646-1437: Missing.

    Show »
    Length:645
    Mass (Da):72,621
    Checksum:iDE98E24AB088AC91
    GO
    Isoform 4 (identifier: Q9BZ95-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         67-129: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,374
    Mass (Da):154,519
    Checksum:i3013E618C16E19E0
    GO
    Isoform 5 (identifier: Q9BZ95-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1196-1206: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,426
    Mass (Da):160,314
    Checksum:i9CB22AD6F0A765A7
    GO

    Sequence cautioni

    The sequence AAI07735.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAG44637.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence BAA91110.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti436 – 4361G → R in AAI15007. (PubMed:15489334)Curated
    Sequence conflicti578 – 5781R → G in AAI15007. (PubMed:15489334)Curated
    Sequence conflicti829 – 8291G → E in CAC28350. (PubMed:11374904)Curated
    Sequence conflicti829 – 8291G → E in CAC28351. (PubMed:11374904)Curated
    Sequence conflicti926 – 9261C → R in AAI15007. (PubMed:15489334)Curated
    Sequence conflicti1308 – 13081K → R in AAI15007. (PubMed:15489334)Curated
    Sequence conflicti1430 – 14301D → G in AAI15007. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861T → M.
    Corresponds to variant rs13034 [ dbSNP | Ensembl ].
    VAR_061215
    Natural varianti383 – 3831R → P.
    Corresponds to variant rs2234552 [ dbSNP | Ensembl ].
    VAR_028950

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei67 – 12963Missing in isoform 4. 1 PublicationVSP_021427Add
    BLAST
    Alternative sequencei620 – 64526ASEIS…EMTSS → SADRGVQGSVRFSDSSVSAA IEETVD in isoform 3. 5 PublicationsVSP_021428Add
    BLAST
    Alternative sequencei646 – 1437792Missing in isoform 3. 5 PublicationsVSP_021429Add
    BLAST
    Alternative sequencei871 – 91949Missing in isoform 2. 1 PublicationVSP_021430Add
    BLAST
    Alternative sequencei1196 – 120611Missing in isoform 5. 1 PublicationVSP_054489Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF332468 mRNA. Translation: AAK00354.1.
    AF332469 mRNA. Translation: AAK00355.1.
    AJ295990 mRNA. Translation: CAC28350.1.
    AJ295991 mRNA. Translation: CAC28351.1.
    AJ295992 mRNA. Translation: CAC28352.1.
    AF255649 mRNA. Translation: AAG44637.1. Frameshift.
    AK000360 mRNA. Translation: BAA91110.1. Different initiation.
    AK022560 mRNA. Translation: BAB14099.1.
    AK127594 mRNA. No translation available.
    CH471080 Genomic DNA. Translation: EAW63320.1.
    CH471080 Genomic DNA. Translation: EAW63321.1.
    BC012059 mRNA. Translation: AAH12059.1.
    BC062631 mRNA. Translation: AAH62631.1.
    BC101717 mRNA. Translation: AAI01718.1.
    BC107734 mRNA. Translation: AAI07735.1. Sequence problems.
    BC113469 mRNA. Translation: AAI13470.1.
    BC115006 mRNA. Translation: AAI15007.1.
    BC143510 mRNA. Translation: AAI43511.1.
    AC087362 Genomic DNA. No translation available.
    AC087623 Genomic DNA. No translation available.
    CCDSiCCDS43729.1. [Q9BZ95-1]
    CCDS6105.1. [Q9BZ95-3]
    RefSeqiNP_060248.2. NM_017778.2. [Q9BZ95-3]
    NP_075447.1. NM_023034.1. [Q9BZ95-1]
    XP_005273604.1. XM_005273547.1. [Q9BZ95-5]
    XP_005273605.1. XM_005273548.1. [Q9BZ95-2]
    UniGeneiHs.434966.
    Hs.608111.
    Hs.655314.

    Genome annotation databases

    EnsembliENST00000316985; ENSP00000313410; ENSG00000147548. [Q9BZ95-3]
    ENST00000317025; ENSP00000313983; ENSG00000147548. [Q9BZ95-1]
    ENST00000433384; ENSP00000393284; ENSG00000147548. [Q9BZ95-2]
    ENST00000527502; ENSP00000434730; ENSG00000147548. [Q9BZ95-5]
    GeneIDi54904.
    KEGGihsa:54904.
    UCSCiuc003xli.3. human. [Q9BZ95-1]
    uc003xlj.3. human. [Q9BZ95-3]
    uc010lwe.3. human. [Q9BZ95-2]

    Polymorphism databases

    DMDMi74761342.

    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
    AF332468 mRNA. Translation: AAK00354.1 .
    AF332469 mRNA. Translation: AAK00355.1 .
    AJ295990 mRNA. Translation: CAC28350.1 .
    AJ295991 mRNA. Translation: CAC28351.1 .
    AJ295992 mRNA. Translation: CAC28352.1 .
    AF255649 mRNA. Translation: AAG44637.1 . Frameshift.
    AK000360 mRNA. Translation: BAA91110.1 . Different initiation.
    AK022560 mRNA. Translation: BAB14099.1 .
    AK127594 mRNA. No translation available.
    CH471080 Genomic DNA. Translation: EAW63320.1 .
    CH471080 Genomic DNA. Translation: EAW63321.1 .
    BC012059 mRNA. Translation: AAH12059.1 .
    BC062631 mRNA. Translation: AAH62631.1 .
    BC101717 mRNA. Translation: AAI01718.1 .
    BC107734 mRNA. Translation: AAI07735.1 . Sequence problems.
    BC113469 mRNA. Translation: AAI13470.1 .
    BC115006 mRNA. Translation: AAI15007.1 .
    BC143510 mRNA. Translation: AAI43511.1 .
    AC087362 Genomic DNA. No translation available.
    AC087623 Genomic DNA. No translation available.
    CCDSi CCDS43729.1. [Q9BZ95-1 ]
    CCDS6105.1. [Q9BZ95-3 ]
    RefSeqi NP_060248.2. NM_017778.2. [Q9BZ95-3 ]
    NP_075447.1. NM_023034.1. [Q9BZ95-1 ]
    XP_005273604.1. XM_005273547.1. [Q9BZ95-5 ]
    XP_005273605.1. XM_005273548.1. [Q9BZ95-2 ]
    UniGenei Hs.434966.
    Hs.608111.
    Hs.655314.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DAQ NMR - A 957-1053 [» ]
    4GND X-ray 2.27 A/C 1310-1413 [» ]
    4GNE X-ray 1.47 A 1310-1413 [» ]
    4GNF X-ray 1.55 A 1310-1413 [» ]
    4GNG X-ray 1.73 A/D 1310-1413 [» ]
    ProteinModelPortali Q9BZ95.
    SMRi Q9BZ95. Positions 266-332, 700-834, 919-1285, 1316-1413.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120250. 19 interactions.
    IntActi Q9BZ95. 16 interactions.
    MINTi MINT-4830664.

    PTM databases

    PhosphoSitei Q9BZ95.

    Polymorphism databases

    DMDMi 74761342.

    Proteomic databases

    MaxQBi Q9BZ95.
    PaxDbi Q9BZ95.
    PRIDEi Q9BZ95.

    Protocols and materials databases

    DNASUi 54904.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316985 ; ENSP00000313410 ; ENSG00000147548 . [Q9BZ95-3 ]
    ENST00000317025 ; ENSP00000313983 ; ENSG00000147548 . [Q9BZ95-1 ]
    ENST00000433384 ; ENSP00000393284 ; ENSG00000147548 . [Q9BZ95-2 ]
    ENST00000527502 ; ENSP00000434730 ; ENSG00000147548 . [Q9BZ95-5 ]
    GeneIDi 54904.
    KEGGi hsa:54904.
    UCSCi uc003xli.3. human. [Q9BZ95-1 ]
    uc003xlj.3. human. [Q9BZ95-3 ]
    uc010lwe.3. human. [Q9BZ95-2 ]

    Organism-specific databases

    CTDi 54904.
    GeneCardsi GC08M038151.
    HGNCi HGNC:12767. WHSC1L1.
    HPAi CAB013721.
    HPA005659.
    HPA018893.
    MIMi 607083. gene.
    neXtProti NX_Q9BZ95.
    PharmGKBi PA37370.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2940.
    HOVERGENi HBG079979.
    InParanoidi Q9BZ95.
    KOi K11425.
    OMAi MEKDIHK.
    OrthoDBi EOG7Z69BG.
    PhylomeDBi Q9BZ95.
    TreeFami TF329088.

    Miscellaneous databases

    ChiTaRSi WHSC1L1. human.
    EvolutionaryTracei Q9BZ95.
    GeneWikii WHSC1L1.
    GenomeRNAii 54904.
    NextBioi 35481221.
    PROi Q9BZ95.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZ95.
    Bgeei Q9BZ95.
    Genevestigatori Q9BZ95.

    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 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. 2 hits.
    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. 1 hit.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3."
      Stec I., van Ommen G.-J.B., den Dunnen J.T.
      Genomics 76:5-8(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
    2. "NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines."
      Angrand P.-O., Apiou F., Stewart F., Dutrillaux B., Losson R., Chambon P.
      Genomics 74:79-88(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY.
    3. "A novel gene from human dendritic cells."
      Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Dendritic cell.
    4. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-383 (ISOFORM 4).
      Tissue: Brain and Teratocarcinoma.
    5. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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 1; 3 AND 5).
      Tissue: Brain and Placenta.
    8. "NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15)."
      Rosati R., La Starza R., Veronese A., Aventin A., Schwienbacher C., Vallespi T., Negrini M., Martelli M.F., Mecucci C.
      Blood 99:3857-3860(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH NUP98.
    9. Cited for: INVOLVEMENT IN NSCLC.
    10. "Characterization of a novel WHSC1-associated SET domain protein with H3K4 and H3K27 methyltransferase activity."
      Kim S.M., Kee H.J., Eom G.H., Choe N.W., Kim J.Y., Kim Y.S., Kim S.K., Kook H., Kook H., Seo S.B.
      Biochem. Biophys. Res. Commun. 345:318-323(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME ACTIVITY, FUNCTION.
    11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-790, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3."
      Rahman S., Sowa M.E., Ottinger M., Smith J.A., Shi Y., Harper J.W., Howley P.M.
      Mol. Cell. Biol. 31:2641-2652(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BRD4.
    13. "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-150, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Solution structure of second PWWP domain of WHSC1L1 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (DEC-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 957-1053.

    Entry informationi

    Entry nameiNSD3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZ95
    Secondary accession number(s): B7ZL11
    , D3DSX1, Q1RMD3, Q3B796, Q6ZSA5, Q9BYU8, Q9BYU9, Q9H2M8, Q9H9W9, Q9NXA6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 127 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 8
      Human chromosome 8: 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