Q6P2L6 (NSD3_MOUSE) 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
Wolf-Hirschhorn syndrome candidate 1-like protein 1 homolog
Short name=WHSC1-like protein 1

Gene names

Name:	Whsc1l1
Synonyms:	Nsd3

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1439 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 By similarity.
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Subcellular location	Nucleus By similarity. Chromosome By similarity.
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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Chromosome Nucleus
Coding sequence diversity	Alternative splicing
Domain	Coiled coil Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Chromatin regulator Methyltransferase Transferase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	histone lysine methylation Inferred from electronic annotation. Source: GOC 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 from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC 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: Q6P2L6-1)

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: Q6P2L6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     135-135: P → PLPPPPPPPPP
     620-645: ASEISDSCKPLKKRSRASTDVETASC → SADRGAQGSVRFSDSSVSAAKEETVD
     646-1439: Missing.

Isoform 3 (identifier: Q6P2L6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-941: Missing.
     973-975: Missing.
     1199-1209: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q6P2L6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     135-135: P → PLPPPPPPPPP
     603-611: QVETAPQAS → QVGFLHVES
     612-1439: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1439	1439	Histone-lysine N-methyltransferase NSD3		PRO_0000259522
Regions
	Domain	270 – 333	64	PWWP 1
	Domain	960 – 1025	66	PWWP 2
	Domain	1096 – 1146	51	AWS
	Domain	1147 – 1269	123	SET
	Domain	1272 – 1288	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	1323 – 1370	48	PHD-type 4; atypical
	Coiled coil	1036 – 1065	30	Potential
Amino acid modifications
	Modified residue	150	1	Phosphoserine By similarity
	Modified residue	790	1	N6-acetyllysine By similarity
Natural variations
	Alternative sequence	1 – 941	941	Missing in isoform 3.		VSP_021431
	Alternative sequence	135	1	P → PLPPPPPPPPP in isoform 2 and isoform 4.		VSP_021432
	Alternative sequence	603 – 611	9	QVETAPQAS → QVGFLHVES in isoform 4.		VSP_021433
	Alternative sequence	612 – 1439	828	Missing in isoform 4.		VSP_021434
	Alternative sequence	620 – 645	26	ASEIS…ETASC → SADRGAQGSVRFSDSSVSAA KEETVD in isoform 2.		VSP_021435
	Alternative sequence	646 – 1439	794	Missing in isoform 2.		VSP_021436
	Alternative sequence	973 – 975	3	Missing in isoform 3.		VSP_021437
	Alternative sequence	1199 – 1209	11	Missing in isoform 3.		VSP_021438
Experimental info
	Sequence conflict	122	1	H → R in BAE33834. Ref.1
	Sequence conflict	950	1	N → K in BAE21322. Ref.1
	Sequence conflict	1149	1	D → N in BAE21322. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2006. Version 2. Checksum: 917C7ADCD1248525	FASTA	1,439	161,002
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNHSDI VEDGGPTPFE ATLQQGFQYP 70 80 90 100 110 120 PTTEDLPPLT NGYPPSISLY ETQTKYPPYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES SLCGDLLNEV 190 200 210 220 230 240 QASEHTKSKH ESRKEKRKKS NRHESSRSEE RRSHKIPKLE PEGQNRPNER VDTAPEKPRE 250 260 270 280 290 300 EPVLKEAIPV QPILSSVPTT ETSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHSKI 310 320 330 340 350 360 NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHEQYEELL AEAAKQASNH SEKQKIRKPR 370 380 390 400 410 420 PQRERAQWDI GIAHAEKALK MTREERVEQY TFIYIDKQPE EASSQAKKNV TSKTEVKKPR 430 440 450 460 470 480 RPRSVLNSQP EQTNAGEVAS SQSSTDLRRQ SQRRHTSLEE EEPPPVKIAW KTAAARKSLP 490 500 510 520 530 540 ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ 550 560 570 580 590 600 DRLIISSPSQ RSEKPAQSAS SPEATSGSAG PVEKKQQRRS IRTRSESEKS AEVVPKKKIK 610 620 630 640 650 660 KEQVETAPQA SLKTGLQKGA SEISDSCKPL KKRSRASTDV ETASCTYRDT SDSDSRGLSD 670 680 690 700 710 720 GQVGFGKQVD SPSATADADA SDAQSVDSSL SRRGVGTSKK DTVCQVCEKA GDCLVACEGE 730 740 750 760 770 780 CCRHFHVECL GLTAVPEGHF TCEECETGQH PCFSCKVSGK DVKRCSVSVC GKFYHEACVR 790 800 810 820 830 840 KFPTAIFESK GFRCPQHCCS SCSMEKDIHK ASKGRMMRCL RCPVAYHVGD ACVAAGSVSV 850 860 870 880 890 900 SSHILICSNH SKRSSQSAAI NVGFCFVCAR GLIVQDHSDP MFSSYAYKSH YLLSESNRAE 910 920 930 940 950 960 LMKLPMIPSS SASKKRCEKG GRLLCCESCP ASFHPECLSI DMPEGCWNCN DCKAGKKLHY 970 980 990 1000 1010 1020 KQIVWVKLGN YRQVLWWPAE ICSPRSVPLN IQGLKHDLGD FPVFFFGSHD YYWVHQGRVF 1030 1040 1050 1060 1070 1080 PYVEGDKHFA EGQTSINKTF KKALEEAAKR FQELKAQRES KEALEMERTS RKPPPYKHIK 1090 1100 1110 1120 1130 1140 ANKVIGKVQV QVADLSEIPR CNCKPGDENP CGLESQCLNR MSQYECHPQV CPAGDRCQNQ 1150 1160 1170 1180 1190 1200 CFTKRLYPDA EVIKTERRGW GLRTKRSIKK GEFVNEYVGE LIDEEECRLR IKRAHENSVT 1210 1220 1230 1240 1250 1260 NFYMLTVTKD RIIDAGPKGN YSRFMNHSCN PNCETQKWTV NGDVRVGLFA LCDIPAGMEL 1270 1280 1290 1300 1310 1320 TFNYNLDCLG NGRTVCHCGA DNCSGFLGVR PKSACTSAVD EKTKNAKLKK RRKVKAEAKP 1330 1340 1350 1360 1370 1380 IHEDYCFQCG DGGELVMCDK KDCPKAYHLL CLNLTQPPHG KWECPWHRCD ECGSVAVSFC 1390 1400 1410 1420 1430 EFCPHSFCKA HGKGALVPSA LEGRLCCSSH DPASPVSPEY WSKIRCKWES QDSGEEVKE
	Isoform 2 [UniParc]. Checksum: 358CBD840A5A47C6	FASTA	655	73,380
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNHSDI VEDGGPTPFE ATLQQGFQYP 70 80 90 100 110 120 PTTEDLPPLT NGYPPSISLY ETQTKYPPYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPLPPPP PPPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES 190 200 210 220 230 240 SLCGDLLNEV QASEHTKSKH ESRKEKRKKS NRHESSRSEE RRSHKIPKLE PEGQNRPNER 250 260 270 280 290 300 VDTAPEKPRE EPVLKEAIPV QPILSSVPTT ETSTGVKFQV GDLVWSKVGT YPWWPCMVSS 310 320 330 340 350 360 DPQLEVHSKI NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHEQYEELL AEAAKQASNH 370 380 390 400 410 420 SEKQKIRKPR PQRERAQWDI GIAHAEKALK MTREERVEQY TFIYIDKQPE EASSQAKKNV 430 440 450 460 470 480 TSKTEVKKPR RPRSVLNSQP EQTNAGEVAS SQSSTDLRRQ SQRRHTSLEE EEPPPVKIAW 490 500 510 520 530 540 KTAAARKSLP ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG 550 560 570 580 590 600 NKTEISVRGQ DRLIISSPSQ RSEKPAQSAS SPEATSGSAG PVEKKQQRRS IRTRSESEKS 610 620 630 640 650 AEVVPKKKIK KEQVETAPQA SLKTGLQKGS ADRGAQGSVR FSDSSVSAAK EETVD
	Isoform 3 [UniParc]. Checksum: 562572C7B3100FD4	FASTA	484	54,977
	10 20 30 40 50 60 MPEGCWNCND CKAGKKLHYK QIVWVKLGNY RWWPAEICSP RSVPLNIQGL KHDLGDFPVF 70 80 90 100 110 120 FFGSHDYYWV HQGRVFPYVE GDKHFAEGQT SINKTFKKAL EEAAKRFQEL KAQRESKEAL 130 140 150 160 170 180 EMERTSRKPP PYKHIKANKV IGKVQVQVAD LSEIPRCNCK PGDENPCGLE SQCLNRMSQY 190 200 210 220 230 240 ECHPQVCPAG DRCQNQCFTK RLYPDAEVIK TERRGWGLRT KRSIKKGEFV NEYVGELIDE 250 260 270 280 290 300 EECRLRIKRA HENSDRIIDA GPKGNYSRFM NHSCNPNCET QKWTVNGDVR VGLFALCDIP 310 320 330 340 350 360 AGMELTFNYN LDCLGNGRTV CHCGADNCSG FLGVRPKSAC TSAVDEKTKN AKLKKRRKVK 370 380 390 400 410 420 AEAKPIHEDY CFQCGDGGEL VMCDKKDCPK AYHLLCLNLT QPPHGKWECP WHRCDECGSV 430 440 450 460 470 480 AVSFCEFCPH SFCKAHGKGA LVPSALEGRL CCSSHDPASP VSPEYWSKIR CKWESQDSGE EVKE
	Isoform 4 [UniParc]. Checksum: 5553A83F48BF9B16	FASTA	621	70,000
	10 20 30 40 50 60 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNHSDI VEDGGPTPFE ATLQQGFQYP 70 80 90 100 110 120 PTTEDLPPLT NGYPPSISLY ETQTKYPPYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR 130 140 150 160 170 180 PHEILEKPSP PQPPPLPPPP PPPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES 190 200 210 220 230 240 SLCGDLLNEV QASEHTKSKH ESRKEKRKKS NRHESSRSEE RRSHKIPKLE PEGQNRPNER 250 260 270 280 290 300 VDTAPEKPRE EPVLKEAIPV QPILSSVPTT ETSTGVKFQV GDLVWSKVGT YPWWPCMVSS 310 320 330 340 350 360 DPQLEVHSKI NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHEQYEELL AEAAKQASNH 370 380 390 400 410 420 SEKQKIRKPR PQRERAQWDI GIAHAEKALK MTREERVEQY TFIYIDKQPE EASSQAKKNV 430 440 450 460 470 480 TSKTEVKKPR RPRSVLNSQP EQTNAGEVAS SQSSTDLRRQ SQRRHTSLEE EEPPPVKIAW 490 500 510 520 530 540 KTAAARKSLP ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG 550 560 570 580 590 600 NKTEISVRGQ DRLIISSPSQ RSEKPAQSAS SPEATSGSAG PVEKKQQRRS IRTRSESEKS 610 620 AEVVPKKKIK KEQVGFLHVE S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The transcriptional landscape of the mammalian genome." 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. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Strain: C57BL/6J and NOD. Tissue: Aorta, Spleen, Testis and Vein.
[2]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[3]	"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] (ISOFORM 2). Strain: C57BL/6. Tissue: Brain.
[4]	Lubec G., Sunyer B., Chen W.-Q. Submitted (JAN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 899-914, MASS SPECTROMETRY. Strain: OF1. Tissue: Hippocampus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK079952 mRNA. Translation: BAC37792.1. AK132725 mRNA. Translation: BAE21322.1. AK156746 mRNA. Translation: BAE33834.1. AK170040 mRNA. Translation: BAE41526.1. AC156990 Genomic DNA. No translation available. AC162367 Genomic DNA. No translation available. BC064447 mRNA. Translation: AAH64447.1.
IPI	IPI00353681. IPI00625887. IPI00974621. IPI00987793.
RefSeq	NP_001001735.1. NM_001001735.1.
UniGene	Mm.217337.
3D structure databases
ProteinModelPortal	Q6P2L6.
SMR	Q6P2L6. Positions 262-332, 699-851, 919-953, 957-1288, 1321-1415.
ModBase	Search...
PTM databases
PhosphoSite	Q6P2L6.
Proteomic databases
PaxDb	Q6P2L6.
PRIDE	Q6P2L6.
Protocols and materials databases
DNASU	234135.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000146919; ENSMUSP00000115470; ENSMUSG00000054823. ENSMUST00000155861; ENSMUSP00000117596; ENSMUSG00000054823.
GeneID	234135.
KEGG	mmu:234135.
UCSC	uc009lgk.1. mouse. uc009lgm.1. mouse. uc009lgp.1. mouse.
Organism-specific databases
CTD	54904.
MGI	MGI:2142581. Whsc1l1.
Phylogenomic databases
eggNOG	COG2940.
GeneTree	ENSGT00700000104009.
HOGENOM	HOG000230893.
HOVERGEN	HBG079979.
InParanoid	Q6P2L6.
KO	K11425.
Gene expression databases
ArrayExpress	Q6P2L6.
Bgee	Q6P2L6.
Genevestigator	Q6P2L6.
GermOnline	ENSMUSG00000054823. Mus musculus.
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. 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. 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. mouse.
NextBio	382034.
SOURCE	Search...

Entry information

Entry name

NSD3_MOUSE

Accession

Primary (citable) accession number: Q6P2L6
Secondary accession number(s): Q3TDS4 , Q3U0L8, Q3V131, Q8BJT3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	May 1, 2013
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program