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O96028

- NSD2_HUMAN

UniProt

O96028 - NSD2_HUMAN

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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

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. 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
Complete GO annotation...

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-KW
  2. cytoplasm Source: UniProtKB-KW
  3. nuclear membrane Source: HPA
  4. nucleolus Source: HPA
  5. nucleus Source: HPA
Complete GO annotation...

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

BgeeiO96028.
ExpressionAtlasiO96028. baseline and differential.
GenevestigatoriO96028.

Organism-specific databases

HPAiHPA015315.
HPA015801.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi113306. 141 interactions.
DIPiDIP-57224N.
IntActiO96028. 2 interactions.
MINTiMINT-7103764.

Structurei

3D structure databases

ProteinModelPortaliO96028.
SMRiO96028. Positions 216-286, 668-712, 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.
GeneTreeiENSGT00760000118855.
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_dom.
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

        10         20         30         40         50
MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK
60 70 80 90 100
AQLSSSLQEG VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF
110 120 130 140 150
ESQEMKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDSAAD
160 170 180 190 200
VSQSEENGQK PENKARRNRK RSIKYDSLLE QGLVEAALVS KISSPSDKKI
210 220 230 240 250
PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV SADPLLHSYT
260 270 280 290 300
KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ
310 320 330 340 350
APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG
360 370 380 390 400
DQLHLNPQVA KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR
410 420 430 440 450
RRAKLCSSAE TLESHPDIGK STPQKTAEAD PRRGVGSPPG RKKTTVSMPR
460 470 480 490 500
SRKGDAASQF LVFCQKHRDE VVAEHPDASG EEIEELLRSQ WSLLSEKQRA
510 520 530 540 550
RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE AEDTPRKRLR
560 570 580 590 600
TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR
610 620 630 640 650
NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE
660 670 680 690 700
VSVSSKKSER GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR
710 720 730 740 750
PEGRFTCSEC ASGIHSCFVC KESKTDVKRC VVTQCGKFYH EACVKKYPLT
760 770 780 790 800
VFESRGFRCP LHSCVSCHAS NPSNPRPSKG KMMRCVRCPV AYHSGDACLA
810 820 830 840 850
AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG GSLLCCESCP
860 870 880 890 900
AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH
910 920 930 940 950
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG
960 970 980 990 1000
VRGIGRVFKN ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY
1010 1020 1030 1040 1050
GKVQIYTADI SEIPKCNCKP TDENPCGFDS ECLNRMLMFE CHPQVCPAGE
1060 1070 1080 1090 1100
FCQNQCFTKR QYPETKIIKT DGKGWGLVAK RDIRKGEFVN EYVGELIDEE
1110 1120 1130 1140 1150
ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM NHSCQPNCET
1160 1170 1180 1190 1200
LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG
1210 1220 1230 1240 1250
FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ
1260 1270 1280 1290 1300
LVLCDRKFCT KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP
1310 1320 1330 1340 1350
NSFCKEHQDG TAFSCTPDGR SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG
1360
KRRRRRGWRR VTEGK
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, 668-712, 833-873, 877-973, 976-1203, 1239-1327.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113306. 141 interactions.
DIPi DIP-57224N.
IntActi O96028. 2 interactions.
MINTi MINT-7103764.

Chemistry

ChEMBLi CHEMBL3108645.

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.
GeneTreei ENSGT00760000118855.
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

Bgeei O96028.
ExpressionAtlasi O96028. baseline and differential.
Genevestigatori O96028.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
3.30.40.10. 3 hits.
InterProi IPR006560. AWS_dom.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 131 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