Q9BZ95 (NSD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	WHSC1L1
Synonyms:	NSD3
ORF Names:	DC28

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1437 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.9
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Ref.9
Subcellular location	Nucleus By similarity. Chromosome By similarity.
Tissue specificity	Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. Ref.2
Involvement in disease	Defects in WHSC1L1 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC. Ref.8 A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.
Sequence similarities	Belongs to the histone-lysine methyltransferase family. SET2 subfamily. Contains 1 AWS domain. Contains 4 PHD-type zinc fingers. Contains 1 post-SET domain. Contains 2 PWWP domains. Contains 1 SET domain.
Sequence caution	The sequence AAG44637.1 differs from that shown. Reason: Frameshift at several positions. The sequence AAI07735.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA91110.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Chromosome Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
Domain	Coiled coil Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Chromatin regulator Methyltransferase Transferase
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Non-traceable author statement. Source: UniProtKB cell growth Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred by curator Ref.9. Source: UniProtKB
Molecular_function	histone-lysine N-methyltransferase activity Inferred from direct assay Ref.9. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BZ95-1)

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.

Isoform 2 (identifier: Q9BZ95-2)

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

Isoform 3 (identifier: Q9BZ95-3)

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

Isoform 4 (identifier: Q9BZ95-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1437

1437

Histone-lysine N-methyltransferase NSD3

PRO_0000259521

Regions

Domain

270 – 333

64

PWWP 1

Domain

960 – 1022

63

PWWP 2

Domain

1093 – 1143

51

AWS

Domain

1144 – 1266

123

SET

Domain

1269 – 1285

17

Post-SET

Zinc finger

701 – 748

48

PHD-type 1

Zinc finger

749 – 805

57

PHD-type 2

Zinc finger

862 – 955

94

PHD-type 3

Zinc finger

1321 – 1368

48

PHD-type 4; atypical

Coiled coil

1033 – 1069

37

Potential

Amino acid modifications

Modified residue

150

1

Phosphoserine Ref.11

Modified residue

790

1

N6-acetyllysine Ref.10

Natural variations

Alternative sequence

67 – 129

63

Missing in isoform 4.

VSP_021427

Alternative sequence

620 – 645

26

ASEIS…EMTSS → SADRGVQGSVRFSDSSVSAA IEETVD in isoform 3.

VSP_021428

Alternative sequence

646 – 1437

792

Missing in isoform 3.

VSP_021429

Alternative sequence

871 – 919

49

Missing in isoform 2.

VSP_021430

Natural variant

186

1

T → M.
Corresponds to variant rs13034 [ dbSNP | Ensembl ].

VAR_061215

Natural variant

383

1

R → P.
Corresponds to variant rs2234552 [ dbSNP | Ensembl ].

VAR_028950

Experimental info

Sequence conflict

436

1

G → R in AAI15007. Ref.6

Sequence conflict

578

1

R → G in AAI15007. Ref.6

Sequence conflict

829

1

G → E in CAC28350. Ref.2

Sequence conflict

829

1

G → E in CAC28351. Ref.2

Sequence conflict

926

1

C → R in AAI15007. Ref.6

Sequence conflict

1308

1

K → R in AAI15007. Ref.6

Sequence conflict

1430

1

D → G in AAI15007. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1437

Helix Strand Turn

Details...

Beta strand

960 – 967

8

Beta strand

969 – 971

3

Beta strand

973 – 978

6

Turn

981 – 983

3

Helix

986 – 989

4

Beta strand

998 – 1002

5

Turn

1003 – 1006

4

Beta strand

1007 – 1011

5

Beta strand

1013 – 1018

6

Beta strand

1025 – 1027

3

Helix

1036 – 1052

17

Turn

1325 – 1327

3

Beta strand

1331 – 1335

5

Helix

1348 – 1350

3

Beta strand

1357 – 1359

3

Helix

1363 – 1365

3

Turn

1368 – 1370

3

Beta strand

1375 – 1377

3

Beta strand

1379 – 1382

4

Turn

1387 – 1389

3

Turn

1391 – 1393

3

Turn

1398 – 1401

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 87E54997A996F7CC	FASTA	1,437	161,613
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE ATLQQGFQYP 70 80 90 100 110 120 ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES SLCGDLLNEV 190 200 210 220 230 240 QASEHTKSKH ESRKEKRKKS NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE 250 260 270 280 290 300 EPVLKEEAPV QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI 310 320 330 340 350 360 NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH SEKQKIRKPR 370 380 390 400 410 420 PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE EALSQAKKSV ASKTEVKKTR 430 440 450 460 470 480 RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH SQRRHTSAEE EEPPPVKIAW KTAAARKSLP 490 500 510 520 530 540 ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ 550 560 570 580 590 600 DRLIISTPNQ RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK 610 620 630 640 650 660 KEQVETVPQA TVKTGLQKGA SEISDSCKPL KKRSRASTDV EMTSSAYRDT SDSDSRGLSD 670 680 690 700 710 720 LQVGFGKQVD SPSATADADV SDVQSMDSSL SRRGTGMSKK DTVCQICESS GDSLIPCEGE 730 740 750 760 770 780 CCKHFHLECL GLASLPDSKF ICMECKTGQH PCFSCKVSGK DVKRCSVGAC GKFYHEACVR 790 800 810 820 830 840 KFPTAIFESK GFRCPQHCCS ACSMEKDIHK ASKGRMMRCL RCPVAYHSGD ACIAAGSMLV 850 860 870 880 890 900 SSYILICSNH SKRSSNSSAV NVGFCFVCAR GLIVQDHSDP MFSSYAYKSH YLLNESNRAE 910 920 930 940 950 960 LMKLPMIPSS SASKKKCEKG GRLLCCESCP ASFHPECLSI EMPEGCWNCN DCKAGKKLHY 970 980 990 1000 1010 1020 KQIVWVKLGN YRWWPAEICN PRSVPLNIQG LKHDLGDFPV FFFGSHDYYW VHQGRVFPYV 1030 1040 1050 1060 1070 1080 EGDKSFAEGQ TSINKTFKKA LEEAAKRFQE LKAQRESKEA LEIEKNSRKP PPYKHIKANK 1090 1100 1110 1120 1130 1140 VIGKVQIQVA DLSEIPRCNC KPADENPCGL ESECLNRMLQ YECHPQVCPA GDRCQNQCFT 1150 1160 1170 1180 1190 1200 KRLYPDAEII KTERRGWGLR TKRSIKKGEF VNEYVGELID EEECRLRIKR AHENSVTNFY 1210 1220 1230 1240 1250 1260 MLTVTKDRII DAGPKGNYSR FMNHSCNPNC ETQKWTVNGD VRVGLFALCD IPAGMELTFN 1270 1280 1290 1300 1310 1320 YNLDCLGNGR TECHCGADNC SGFLGVRPKS ACASTNEEKA KNAKLKQKRR KIKTEPKQMH 1330 1340 1350 1360 1370 1380 EDYCFQCGDG GELVMCDKKD CPKAYHLLCL NLTQPPYGKW ECPWHQCDEC SSAAVSFCEF 1390 1400 1410 1420 1430 CPHSFCKDHE KGALVPSALE GRLCCSEHDP MAPVSPEYWS KIKCKWESQD HGEEVKE
	Isoform 2 [UniParc]. Checksum: 0832BD51DAB0DCFF	FASTA	1,388	156,070
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE ATLQQGFQYP 70 80 90 100 110 120 ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES SLCGDLLNEV 190 200 210 220 230 240 QASEHTKSKH ESRKEKRKKS NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE 250 260 270 280 290 300 EPVLKEEAPV QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI 310 320 330 340 350 360 NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH SEKQKIRKPR 370 380 390 400 410 420 PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE EALSQAKKSV ASKTEVKKTR 430 440 450 460 470 480 RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH SQRRHTSAEE EEPPPVKIAW KTAAARKSLP 490 500 510 520 530 540 ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ 550 560 570 580 590 600 DRLIISTPNQ RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK 610 620 630 640 650 660 KEQVETVPQA TVKTGLQKGA SEISDSCKPL KKRSRASTDV EMTSSAYRDT SDSDSRGLSD 670 680 690 700 710 720 LQVGFGKQVD SPSATADADV SDVQSMDSSL SRRGTGMSKK DTVCQICESS GDSLIPCEGE 730 740 750 760 770 780 CCKHFHLECL GLASLPDSKF ICMECKTGQH PCFSCKVSGK DVKRCSVGAC GKFYHEACVR 790 800 810 820 830 840 KFPTAIFESK GFRCPQHCCS ACSMEKDIHK ASKGRMMRCL RCPVAYHSGD ACIAAGSMLV 850 860 870 880 890 900 SSYILICSNH SKRSSNSSAV NVGFCFVCAR GGRLLCCESC PASFHPECLS IEMPEGCWNC 910 920 930 940 950 960 NDCKAGKKLH YKQIVWVKLG NYRWWPAEIC NPRSVPLNIQ GLKHDLGDFP VFFFGSHDYY 970 980 990 1000 1010 1020 WVHQGRVFPY VEGDKSFAEG QTSINKTFKK ALEEAAKRFQ ELKAQRESKE ALEIEKNSRK 1030 1040 1050 1060 1070 1080 PPPYKHIKAN KVIGKVQIQV ADLSEIPRCN CKPADENPCG LESECLNRML QYECHPQVCP 1090 1100 1110 1120 1130 1140 AGDRCQNQCF TKRLYPDAEI IKTERRGWGL RTKRSIKKGE FVNEYVGELI DEEECRLRIK 1150 1160 1170 1180 1190 1200 RAHENSVTNF YMLTVTKDRI IDAGPKGNYS RFMNHSCNPN CETQKWTVNG DVRVGLFALC 1210 1220 1230 1240 1250 1260 DIPAGMELTF NYNLDCLGNG RTECHCGADN CSGFLGVRPK SACASTNEEK AKNAKLKQKR 1270 1280 1290 1300 1310 1320 RKIKTEPKQM HEDYCFQCGD GGELVMCDKK DCPKAYHLLC LNLTQPPYGK WECPWHQCDE 1330 1340 1350 1360 1370 1380 CSSAAVSFCE FCPHSFCKDH EKGALVPSAL EGRLCCSEHD PMAPVSPEYW SKIKCKWESQ DHGEEVKE
	Isoform 3 [UniParc]. Checksum: DE98E24AB088AC91	FASTA	645	72,621
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE ATLQQGFQYP 70 80 90 100 110 120 ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES SLCGDLLNEV 190 200 210 220 230 240 QASEHTKSKH ESRKEKRKKS NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE 250 260 270 280 290 300 EPVLKEEAPV QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI 310 320 330 340 350 360 NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH SEKQKIRKPR 370 380 390 400 410 420 PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE EALSQAKKSV ASKTEVKKTR 430 440 450 460 470 480 RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH SQRRHTSAEE EEPPPVKIAW KTAAARKSLP 490 500 510 520 530 540 ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ 550 560 570 580 590 600 DRLIISTPNQ RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK 610 620 630 640 KEQVETVPQA TVKTGLQKGS ADRGVQGSVR FSDSSVSAAI EETVD
	Isoform 4 [UniParc]. Checksum: 3013E618C16E19E0	FASTA	1,374	154,519
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE ATLQQGFQYP 70 80 90 100 110 120 ATTEDLPPQP PPPPSVPQTV IPKKTGSPEI KLKITKTIQN GRELFESSLC GDLLNEVQAS 130 140 150 160 170 180 EHTKSKHESR KEKRKKSNKH DSSRSEERKS HKIPKLEPEE QNRPNERVDT VSEKPREEPV 190 200 210 220 230 240 LKEEAPVQPI LSSVPTTEVS TGVKFQVGDL VWSKVGTYPW WPCMVSSDPQ LEVHTKINTR 250 260 270 280 290 300 GAREYHVQFF SNQPERAWVH EKRVREYKGH KQYEELLAEA TKQASNHSEK QKIRKPRPQR 310 320 330 340 350 360 ERAQWDIGIA HAEKALKMTR EERIEQYTFI YIDKQPEEAL SQAKKSVASK TEVKKTRRPR 370 380 390 400 410 420 SVLNTQPEQT NAGEVASSLS STEIRRHSQR RHTSAEEEEP PPVKIAWKTA AARKSLPASI 430 440 450 460 470 480 TMHKGSLDLQ KCNMSPVVKI EQVFALQNAT GDGKFIDQFV YSTKGIGNKT EISVRGQDRL 490 500 510 520 530 540 IISTPNQRNE KPTQSVSSPE ATSGSTGSVE KKQQRRSIRT RSESEKSTEV VPKKKIKKEQ 550 560 570 580 590 600 VETVPQATVK TGLQKGASEI SDSCKPLKKR SRASTDVEMT SSAYRDTSDS DSRGLSDLQV 610 620 630 640 650 660 GFGKQVDSPS ATADADVSDV QSMDSSLSRR GTGMSKKDTV CQICESSGDS LIPCEGECCK 670 680 690 700 710 720 HFHLECLGLA SLPDSKFICM ECKTGQHPCF SCKVSGKDVK RCSVGACGKF YHEACVRKFP 730 740 750 760 770 780 TAIFESKGFR CPQHCCSACS MEKDIHKASK GRMMRCLRCP VAYHSGDACI AAGSMLVSSY 790 800 810 820 830 840 ILICSNHSKR SSNSSAVNVG FCFVCARGLI VQDHSDPMFS SYAYKSHYLL NESNRAELMK 850 860 870 880 890 900 LPMIPSSSAS KKKCEKGGRL LCCESCPASF HPECLSIEMP EGCWNCNDCK AGKKLHYKQI 910 920 930 940 950 960 VWVKLGNYRW WPAEICNPRS VPLNIQGLKH DLGDFPVFFF GSHDYYWVHQ GRVFPYVEGD 970 980 990 1000 1010 1020 KSFAEGQTSI NKTFKKALEE AAKRFQELKA QRESKEALEI EKNSRKPPPY KHIKANKVIG 1030 1040 1050 1060 1070 1080 KVQIQVADLS EIPRCNCKPA DENPCGLESE CLNRMLQYEC HPQVCPAGDR CQNQCFTKRL 1090 1100 1110 1120 1130 1140 YPDAEIIKTE RRGWGLRTKR SIKKGEFVNE YVGELIDEEE CRLRIKRAHE NSVTNFYMLT 1150 1160 1170 1180 1190 1200 VTKDRIIDAG PKGNYSRFMN HSCNPNCETQ KWTVNGDVRV GLFALCDIPA GMELTFNYNL 1210 1220 1230 1240 1250 1260 DCLGNGRTEC HCGADNCSGF LGVRPKSACA STNEEKAKNA KLKQKRRKIK TEPKQMHEDY 1270 1280 1290 1300 1310 1320 CFQCGDGGEL VMCDKKDCPK AYHLLCLNLT QPPYGKWECP WHQCDECSSA AVSFCEFCPH 1330 1340 1350 1360 1370 SFCKDHEKGA LVPSALEGRL CCSEHDPMAP VSPEYWSKIK CKWESQDHGE EVKE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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 AND 3). Tissue: Brain and Placenta.
[7]	"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.
[8]	"High-resolution genomic profiles of human lung cancer." Tonon G., Wong K.-K., Maulik G., Brennan C., Feng B., Zhang Y., Khatry D.B., Protopopov A., You M.J., Aguirre A.J., Martin E.S., Yang Z., Ji H., Chin L., Depinho R.A. Proc. Natl. Acad. Sci. U.S.A. 102:9625-9630(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN NSCLC.
[9]	"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.
[10]	"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, MASS SPECTROMETRY.
[11]	"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, MASS SPECTROMETRY.
[12]	"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.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00307783.
IPI00444331.
IPI00743157.
IPI00792713.

RefSeq

NP_060248.2. NM_017778.2.
NP_075447.1. NM_023034.1.

UniGene

Hs.608111.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q9BZ95.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9BZ95. 1 interaction.

PTM databases

PhosphoSite

Q9BZ95.

Polymorphism databases

DMDM

74761342.

Proteomic databases

PaxDb

Q9BZ95.

PRIDE

Q9BZ95.

Protocols and materials databases

DNASU

54904.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000316985; ENSP00000313410; ENSG00000147548.
ENST00000317025; ENSP00000313983; ENSG00000147548.
ENST00000433384; ENSP00000393284; ENSG00000147548.

GeneID

54904.

KEGG

hsa:54904.

UCSC

uc003xli.3. human.
uc003xlj.3. human.
uc010lwe.3. human.

Organism-specific databases

CTD

54904.

GeneCards

GC08M038151.

HGNC

HGNC:12767. WHSC1L1.

HPA

CAB013721.
HPA005659.
HPA018893.

MIM

607083. gene.

neXtProt

NX_Q9BZ95.

PharmGKB

PA37370.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG2940.

HOVERGEN

HBG079979.

InParanoid

Q9BZ95.

KO

K11425.

OMA

MEKDIHK.

Gene expression databases

ArrayExpress

Q9BZ95.

Bgee

Q9BZ95.

Genevestigator

Q9BZ95.

GermOnline

ENSG00000147548. Homo sapiens.

Family and domain databases

Gene3D

3.30.40.10. 3 hits.

InterPro

IPR006560. AWS.
IPR003616. Post-SET_dom.
IPR000313. PWWP.
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]

Pfam

PF00855. PWWP. 2 hits.
PF00856. SET. 1 hit.
[Graphical view]

SMART

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]

SUPFAM

SSF57903. FYVE_PHD_ZnF. 3 hits.

PROSITE

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]

ProtoNet

Search...

Other

ChiTaRS

WHSC1L1. human.

EvolutionaryTrace

Q9BZ95.

GenomeRNAi

54904.

NextBio

57940.

SOURCE

Search...

Entry information

Entry name

NSD3_HUMAN

Accession

Primary (citable) accession number: Q9BZ95
Secondary accession number(s): D3DSX1 , Q1RMD3, Q3B796, Q6ZSA5, Q9BYU8, Q9BYU9, Q9H2M8, Q9H9W9, Q9NXA6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 114 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.