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UniProtKB/Swiss-Prot entry Q8BVE8


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name NSD2_MOUSE
Primary accession number Q8BVE8
Secondary accession numbers Q6ZPY1 Q7TSF5 Q811F0
Integrated into Swiss-Prot on October 31, 2006
Sequence was last modified on October 31, 2006 (Sequence version 2)
Annotations were last modified on    November 25, 2008 (Entry version 47)
Name and origin of the protein
Protein name Probable histone-lysine N-methyltransferase NSD2
Synonyms EC 2.1.1.43
Nuclear SET domain-containing protein 2
Wolf-Hirschhorn syndrome candidate 1 protein homolog
Gene name
Name: Whsc1
Synonyms: Kiaa1090, Nsd2
From
Mus musculus (Mouse) [TaxID: 10090] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Embryonic tail;
DOI=10.1093/dnares/10.4.167; PubMed=14621295 [NCBI, ExPASy, EBI, Israel, Japan]
Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H.;
"Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.";
DNA Res. 10:167-180(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
The mouse genome sequencing consortium;
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 446-1365 (ISOFORM 1).
STRAIN=C57BL/6J;
TISSUE=Adrenal gland;
DOI=10.1126/science.1112014; PubMed=16141072 [NCBI, ExPASy, EBI, Israel, Japan]
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J., Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 516-1365 (ISOFORM 2).
STRAIN=FVB/N;
TISSUE=Limb, and Mammary tumor;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
DOI=10.1093/hmg/7.7.1071; PubMed=9618163 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"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.";
Hum. Mol. Genet. 7:1071-1082(1998).
[6]
ERRATUM.
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. 7:1527-1527(1998).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AK129287; BAC98097.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC163329; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AK078622; BAC37342.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC046473; AAH46473.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC053454; AAH53454.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
UniGene Mm.19892
3D structure databases
HSSP Q9UIG0; 1F62. [HSSP ENTRY / PDB]
ModBase Q8BVE8.
PTM databases
PhosphoSite Q8BVE8; -.
Organism-specific databases
MGI MGI:1276574; Whsc1.
Gene expression databases
ArrayExpress Q8BVE8; -.
CleanEx MM_WHSC1; -.
GermOnline ENSMUSG00000057406; Mus musculus.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from InterPro).
GO:0003677; Molecular function: DNA binding (inferred from electronic annotation from InterPro).
GO:0018024; Molecular function: histone-lysine N-methyltransferase activity (inferred from electronic annotation from InterPro).
GO:0005515; Molecular function: protein binding (inferred from electronic annotation from InterPro).
GO:0008270; Molecular function: zinc ion binding (inferred from electronic annotation from InterPro).
GO:0016568; Biological process: chromatin modification (inferred from electronic annotation from UniProtKB-KW).
GO:0006355; Biological process: regulation of transcription, DNA-dependent (inferred from electronic annotation from InterPro).
QuickGo view.
Family and domain databases
InterPro IPR006560; AWS.
IPR000910; HMG_1/2_box.
IPR003616; Post-SET_Zn_bd.
IPR000313; PWWP.
IPR001214; SET.
IPR001965; Znf_PHD.
IPR001841; Znf_RING.
IPR013083; Znf_RING/FYVE/PHD.
Graphical view of domain structure.
Gene3D G3DSA:1.10.30.10; HMG-box; 1.
G3DSA:3.30.40.10; Znf_RING/FYVE/PHD; 2.
Pfam PF00505; HMG_box; 1.
PF00628; PHD; 3.
PF00855; PWWP; 2.
PF00856; SET; 1.
Pfam graphical view of domain structure.
SMART SM00570; AWS; 1.
SM00398; HMG; 1.
SM00249; PHD; 4.
SM00508; PostSET; 1.
SM00293; PWWP; 2.
SM00184; RING; 2.
SM00317; SET; 1.
SMART graphical view of domain structure.
PROSITE PS51215; AWS; 1.
PS50118; HMG_BOX_2; 1.
PS50868; POST_SET; 1.
PS50812; PWWP; 2.
PS50280; SET; 1.
PS01359; ZF_PHD_1; 2.
PS50016; ZF_PHD_2; 2.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q8BVE8.
ProtoNet Q8BVE8.
Genome annotation databases
Ensembl ENSMUSG00000057406; Mus musculus. [Contig view]
Phylogenomic databases
HOVERGEN Q8BVE8; -.
Other
SOURCE Whsc1; Mus musculus.
ROUGE KIAA1090.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Chromatin regulator; DNA-binding; Metal-binding; Methyltransferase; Nucleus; Repeat; Transcription; Transcription regulation; Transferase; Zinc; Zinc-finger.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1365  1365     Probable histone-lysine N-methyltransferase NSD2. PRO_0000259520
DOMAIN   222    286  65     PWWP 1. 
DOMAIN   880    942  63     PWWP 2. 
DOMAIN   1011   1061  51     AWS. 
DOMAIN   1062   1184  123     SET. 
DOMAIN   1187   1203  17     Post-SET. 
DNA_BIND   453    521  69     HMG box. 
ZN_FING   667    713  47     PHD-type 1. 
ZN_FING   714    770  57     PHD-type 2. 
ZN_FING   831    875  45     PHD-type 3. 
ZN_FING   1239   1286  48     PHD-type 4; atypical. 
VAR_SEQ   1    519        Missing (in isoform 3). VSP_021424
VAR_SEQ   520    522        NGN -> MGM (in isoform 3). VSP_021425
VAR_SEQ   558    558        K -> KQ (in isoform 2 and isoform 3). VSP_021426
CONFLICT   757    757        F -> L (in Ref. 3; BAC37342). 
CONFLICT   1345   1345        S -> L (in Ref. 4; AAH53454). 
Sequence information
Length: 1365 AA [This is the length of the unprocessed precursor] Molecular weight: 152253 Da [This is the MW of the unprocessed precursor] CRC64: D8DC3F687D3EA2C2 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MEFSIRKSPL SVQKVVKCMK MKQTPEILGS ANGKTQNCEV NHECSVFLSK AQLSNSLQEG 

        70         80         90        100        110        120 
VMQKFNGHDA LPFLPAEKLK DLTSCVFNGE PGAHDTKLCF EAQEVKGIGT PPNTTPIKNG 

       130        140        150        160        170        180 
SPEIKLKITK TYMNGKPLFE SSICGDGAAD VSQSEENEQK SDNKTRRNRK RSIKYDSLLE 

       190        200        210        220        230        240 
QGLVEAALVS KISSPADKKI PVKKESCPNT GRDRDLLLKY NVGDLVWSKV SGYPWWPCMV 

       250        260        270        280        290        300 
SADPLLHNHT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEEQF EKLCQESAKQ 

       310        320        330        340        350        360 
APTKAEKIKL LKPISGRLRA QWEMGIVQAE EAASMSIEER KAKFTFLYVG DQLHLNPQVA 

       370        380        390        400        410        420 
KEAGIVTEPL GEMVDSSGAS EEAAVDPGSV REEDIPTKRR RRTKRSSSAE NQEGDPGTDK 

       430        440        450        460        470        480 
STPPKMAEAE PKRGVGSPAG RKKSTGSAPR SRKGDSAAQF LVFCQKHRDE VVAEHPDASG 

       490        500        510        520        530        540 
EEIEELLGSQ WSMLNEKQKA RYNTKFSLMI SAQSEEDSGN GNGKKRSHTK RADDPAEDVD 

       550        560        570        580        590        600 
VEDAPRKRLR ADKHSLRKRE TITDKTARTS SYKAIEAASS LKSQAATKNL SDACKPLKKR 

       610        620        630        640        650        660 
NRASATASSA LGFNKSSSPS ASLTEHEVSD SPGDEPSESP YESADETQTE ASVSSKKSER 

       670        680        690        700        710        720 
GMAAKKEYVC QLCEKTGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCTEC ASGIHSCFVC 

       730        740        750        760        770        780 
KESKMEVKRC VVNQCGKFYH EACVKKYPLT VFESRGFRCP LHSCMSCHAS NPSNPRPSKG 

       790        800        810        820        830        840 
KMMRCVRCPV AYHGGDACLA AGCSVIASNS IICTGHFTAR KGKRHHTHVN VSWCFVCSKG 

       850        860        870        880        890        900 
GSLLCCEACP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 

       910        920        930        940        950        960 
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 

       970        980        990       1000       1010       1020 
ALQEAEARFN EVKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 

      1030       1040       1050       1060       1070       1080 
TDENPCGSDS ECLNRMLMFE CHPQVCPAGE YCQNQCFTKR QYPETKIIKT DGKGWGLVAK 

      1090       1100       1110       1120       1130       1140 
RDIRKGEFVN EYVGELIDEE ECMARIKYAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 

      1150       1160       1170       1180       1190       1200 
NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 

      1210       1220       1230       1240       1250       1260 
FLGDRPKTSA SLSSEEKGKK AKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 

      1270       1280       1290       1300       1310       1320 
KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFRSTQDGQ 

      1330       1340       1350       1360 
SYCCEHDLRA DSSSSTKTEK PFPESLKSKG KRKKRRCWRR VTDGK 

Q8BVE8 in FASTA format

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