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Protein

Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Gene

NSD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.1 Publication

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei2065S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Binding sitei2071S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1543 – 1589PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri1590 – 1646PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri1707 – 1751PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri2118 – 2165PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

  • histone methylation Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of histone H3-K36 methylation Source: MGI
  • regulation of peptidyl-serine phosphorylation Source: MGI
  • regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Methyltransferase, Repressor, Transferase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS09264-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
SIGNORiQ96L73.

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific (EC:2.1.1.43)
Alternative name(s):
Androgen receptor coactivator 267 kDa protein
Androgen receptor-associated protein of 267 kDa
H3-K36-HMTase
H4-K20-HMTase
Lysine N-methyltransferase 3B
Nuclear receptor-binding SET domain-containing protein 1
Short name:
NR-binding SET domain-containing protein
Gene namesi
Name:NSD1
Synonyms:ARA267, KMT3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:14234. NSD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Sotos syndrome 1 (SOTOS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
See also OMIM:117550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0157801616H → L in SOTOS1. 1 Publication1
Natural variantiVAR_0157811637L → P in SOTOS1. 1 Publication1
Natural variantiVAR_0157821674C → W in SOTOS1. 1 Publication1
Natural variantiVAR_0157831687I → N in SOTOS1. 1 Publication1
Natural variantiVAR_0157841792G → V in SOTOS1. 1 Publication1
Natural variantiVAR_0157851925C → R in SOTOS1. 1 Publication1
Natural variantiVAR_0157861955G → D in SOTOS1. 1 Publication1
Natural variantiVAR_0157871984R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant rs587784169dbSNPEnsembl.1
Natural variantiVAR_0157881997Y → C in SOTOS1. 1 Publication1
Natural variantiVAR_0157892005R → Q in SOTOS1; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant rs587784174dbSNPEnsembl.1
Natural variantiVAR_0157902017R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant rs587784177dbSNPEnsembl.1
Natural variantiVAR_0157912017R → W in SOTOS1. 1 PublicationCorresponds to variant rs587784176dbSNPEnsembl.1
Natural variantiVAR_0157922143H → Q in SOTOS1. 1 PublicationCorresponds to variant rs121908068dbSNPEnsembl.1
Natural variantiVAR_0157932183C → S in SOTOS1. 1 PublicationCorresponds to variant rs121908069dbSNPEnsembl.1
Beckwith-Wiedemann syndrome (BWS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
See also OMIM:130650

A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.

A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1914R → C: Reduced enzyme activity. 1 Publication1
Mutagenesisi1952R → W: Nearly abolished enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi64324.
MalaCardsiNSD1.
MIMi117550. phenotype.
130650. phenotype.
OpenTargetsiENSG00000165671.
Orphaneti228415. 5q35 microduplication syndrome.
238613. Beckwith-Wiedemann syndrome due to NSD1 mutation.
821. Sotos syndrome.
3447. Weaver syndrome.
PharmGKBiPA31790.

Chemistry databases

ChEMBLiCHEMBL3588738.

Polymorphism and mutation databases

BioMutaiNSD1.
DMDMi32469769.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001860701 – 2696Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificAdd BLAST2696

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei117PhosphoserineBy similarity1
Modified residuei483PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei766PhosphoserineCombined sources1
Modified residuei1510PhosphoserineBy similarity1
Modified residuei2369PhosphoserineCombined sources1
Modified residuei2462PhosphothreonineCombined sources1
Modified residuei2471PhosphoserineCombined sources1
Cross-linki2616Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96L73.
MaxQBiQ96L73.
PaxDbiQ96L73.
PeptideAtlasiQ96L73.
PRIDEiQ96L73.

PTM databases

iPTMnetiQ96L73.
PhosphoSitePlusiQ96L73.

Expressioni

Tissue specificityi

Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.

Gene expression databases

BgeeiENSG00000165671.
CleanExiHS_NSD1.
ExpressionAtlasiQ96L73. baseline and differential.
GenevisibleiQ96L73. HS.

Organism-specific databases

HPAiCAB017491.

Interactioni

Subunit structurei

Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- and ligand-binding domains.By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122135. 38 interactors.
DIPiDIP-58517N.
IntActiQ96L73. 7 interactors.
STRINGi9606.ENSP00000395929.

Structurei

Secondary structure

12696
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1852 – 1863Combined sources12
Helixi1889 – 1891Combined sources3
Beta strandi1901 – 1903Combined sources3
Helixi1912 – 1915Combined sources4
Turni1922 – 1924Combined sources3
Helixi1928 – 1930Combined sources3
Helixi1935 – 1938Combined sources4
Beta strandi1944 – 1948Combined sources5
Beta strandi1950 – 1960Combined sources11
Beta strandi1967 – 1970Combined sources4
Beta strandi1973 – 1976Combined sources4
Helixi1978 – 1990Combined sources13
Beta strandi1998 – 2002Combined sources5
Beta strandi2005 – 2013Combined sources9
Helixi2015 – 2018Combined sources4
Beta strandi2026 – 2034Combined sources9
Beta strandi2037 – 2046Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OOIX-ray1.75A1852-2082[»]
ProteinModelPortaliQ96L73.
SMRiQ96L73.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini323 – 388PWWP 1PROSITE-ProRule annotationAdd BLAST66
Domaini1756 – 1818PWWP 2PROSITE-ProRule annotationAdd BLAST63
Domaini1890 – 1940AWSPROSITE-ProRule annotationAdd BLAST51
Domaini1942 – 2059SETPROSITE-ProRule annotationAdd BLAST118
Domaini2066 – 2082Post-SETPROSITE-ProRule annotationAdd BLAST17

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1952 – 1954S-adenosyl-L-methionine binding3
Regioni1994 – 1997S-adenosyl-L-methionine binding4
Regioni2020 – 2021S-adenosyl-L-methionine binding2
Regioni2060 – 2066Inhibits enzyme activity in the absence of bound histone7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2207 – 2421Pro-richAdd BLAST215

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.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)DescriptionActionsGraphical viewLength
Zinc fingeri1543 – 1589PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri1590 – 1646PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri1707 – 1751PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri2118 – 2165PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1081. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000113857.
HOVERGENiHBG007518.
InParanoidiQ96L73.
KOiK15588.
OMAiFICNECR.
OrthoDBiEOG091G00XD.
PhylomeDBiQ96L73.
TreeFamiTF329088.

Family and domain databases

Gene3Di3.30.40.10. 3 hits.
InterProiIPR006560. AWS_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.
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.
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. 2 hits.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96L73-1) [UniParc]FASTAAdd to basket
Also known as: ARA267-beta

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
MDQTCELPRR NCLLPFSNPV NLDAPEDKDS PFGNGQSNFS EPLNGCTMQL
60 70 80 90 100
STVSGTSQNA YGQDSPSCYI PLRRLQDLAS MINVEYLNGS ADGSESFQDP
110 120 130 140 150
EKSDSRAQTP IVCTSLSPGG PTALAMKQEP SCNNSPELQV KVTKTIKNGF
160 170 180 190 200
LHFENFTCVD DADVDSEMDP EQPVTEDESI EEIFEETQTN ATCNYETKSE
210 220 230 240 250
NGVKVAMGSE QDSTPESRHG AVKSPFLPLA PQTETQKNKQ RNEVDGSNEK
260 270 280 290 300
AALLPAPFSL GDTNITIEEQ LNSINLSFQD DPDSSTSTLG NMLELPGTSS
310 320 330 340 350
SSTSQELPFC QPKKKSTPLK YEVGDLIWAK FKRRPWWPCR ICSDPLINTH
360 370 380 390 400
SKMKVSNRRP YRQYYVEAFG DPSERAWVAG KAIVMFEGRH QFEELPVLRR
410 420 430 440 450
RGKQKEKGYR HKVPQKILSK WEASVGLAEQ YDVPKGSKNR KCIPGSIKLD
460 470 480 490 500
SEEDMPFEDC TNDPESEHDL LLNGCLKSLA FDSEHSADEK EKPCAKSRAR
510 520 530 540 550
KSSDNPKRTS VKKGHIQFEA HKDERRGKIP ENLGLNFISG DISDTQASNE
560 570 580 590 600
LSRIANSLTG SNTAPGSFLF SSCGKNTAKK EFETSNGDSL LGLPEGALIS
610 620 630 640 650
KCSREKNKPQ RSLVCGSKVK LCYIGAGDEE KRSDSISICT TSDDGSSDLD
660 670 680 690 700
PIEHSSESDN SVLEIPDAFD RTENMLSMQK NEKIKYSRFA ATNTRVKAKQ
710 720 730 740 750
KPLISNSHTD HLMGCTKSAE PGTETSQVNL SDLKASTLVH KPQSDFTNDA
760 770 780 790 800
LSPKFNLSSS ISSENSLIKG GAANQALLHS KSKQPKFRSI KCKHKENPVM
810 820 830 840 850
AEPPVINEEC SLKCCSSDTK GSPLASISKS GKVDGLKLLN NMHEKTRDSS
860 870 880 890 900
DIETAVVKHV LSELKELSYR SLGEDVSDSG TSKPSKPLLF SSASSQNHIP
910 920 930 940 950
IEPDYKFSTL LMMLKDMHDS KTKEQRLMTA QNLVSYRSPG RGDCSTNSPV
960 970 980 990 1000
GVSKVLVSGG STHNSEKKGD GTQNSANPSP SGGDSALSGE LSASLPGLLS
1010 1020 1030 1040 1050
DKRDLPASGK SRSDCVTRRN CGRSKPSSKL RDAFSAQMVK NTVNRKALKT
1060 1070 1080 1090 1100
ERKRKLNQLP SVTLDAVLQG DRERGGSLRG GAEDPSKEDP LQIMGHLTSE
1110 1120 1130 1140 1150
DGDHFSDVHF DSKVKQSDPG KISEKGLSFE NGKGPELDSV MNSENDELNG
1160 1170 1180 1190 1200
VNQVVPKKRW QRLNQRRTKP RKRMNRFKEK ENSECAFRVL LPSDPVQEGR
1210 1220 1230 1240 1250
DEFPEHRTPS ASILEEPLTE QNHADCLDSA GPRLNVCDKS SASIGDMEKE
1260 1270 1280 1290 1300
PGIPSLTPQA ELPEPAVRSE KKRLRKPSKW LLEYTEEYDQ IFAPKKKQKK
1310 1320 1330 1340 1350
VQEQVHKVSS RCEEESLLAR GRSSAQNKQV DENSLISTKE EPPVLEREAP
1360 1370 1380 1390 1400
FLEGPLAQSE LGGGHAELPQ LTLSVPVAPE VSPRPALESE ELLVKTPGNY
1410 1420 1430 1440 1450
ESKRQRKPTK KLLESNDLDP GFMPKKGDLG LSKKCYEAGH LENGITESCA
1460 1470 1480 1490 1500
TSYSKDFGGG TTKIFDKPRK RKRQRHAAAK MQCKKVKNDD SSKEIPGSEG
1510 1520 1530 1540 1550
ELMPHRTATS PKETVEEGVE HDPGMPASKK MQGERGGGAA LKENVCQNCE
1560 1570 1580 1590 1600
KLGELLLCEA QCCGAFHLEC LGLTEMPRGK FICNECRTGI HTCFVCKQSG
1610 1620 1630 1640 1650
EDVKRCLLPL CGKFYHEECV QKYPPTVMQN KGFRCSLHIC ITCHAANPAN
1660 1670 1680 1690 1700
VSASKGRLMR CVRCPVAYHA NDFCLAAGSK ILASNSIICP NHFTPRRGCR
1710 1720 1730 1740 1750
NHEHVNVSWC FVCSEGGSLL CCDSCPAAFH RECLNIDIPE GNWYCNDCKA
1760 1770 1780 1790 1800
GKKPHYREIV WVKVGRYRWW PAEICHPRAV PSNIDKMRHD VGEFPVLFFG
1810 1820 1830 1840 1850
SNDYLWTHQA RVFPYMEGDV SSKDKMGKGV DGTYKKALQE AAARFEELKA
1860 1870 1880 1890 1900
QKELRQLQED RKNDKKPPPY KHIKVNRPIG RVQIFTADLS EIPRCNCKAT
1910 1920 1930 1940 1950
DENPCGIDSE CINRMLLYEC HPTVCPAGGR CQNQCFSKRQ YPEVEIFRTL
1960 1970 1980 1990 2000
QRGWGLRTKT DIKKGEFVNE YVGELIDEEE CRARIRYAQE HDITNFYMLT
2010 2020 2030 2040 2050
LDKDRIIDAG PKGNYARFMN HCCQPNCETQ KWSVNGDTRV GLFALSDIKA
2060 2070 2080 2090 2100
GTELTFNYNL ECLGNGKTVC KCGAPNCSGF LGVRPKNQPI ATEEKSKKFK
2110 2120 2130 2140 2150
KKQQGKRRTQ GEITKEREDE CFSCGDAGQL VSCKKPGCPK VYHADCLNLT
2160 2170 2180 2190 2200
KRPAGKWECP WHQCDICGKE AASFCEMCPS SFCKQHREGM LFISKLDGRL
2210 2220 2230 2240 2250
SCTEHDPCGP NPLEPGEIRE YVPPPVPLPP GPSTHLAEQS TGMAAQAPKM
2260 2270 2280 2290 2300
SDKPPADTNQ MLSLSKKALA GTCQRPLLPE RPLERTDSRP QPLDKVRDLA
2310 2320 2330 2340 2350
GSGTKSQSLV SSQRPLDRPP AVAGPRPQLS DKPSPVTSPS SSPSVRSQPL
2360 2370 2380 2390 2400
ERPLGTADPR LDKSIGAASP RPQSLEKTSV PTGLRLPPPD RLLITSSPKP
2410 2420 2430 2440 2450
QTSDRPTDKP HASLSQRLPP PEKVLSAVVQ TLVAKEKALR PVDQNTQSKN
2460 2470 2480 2490 2500
RAALVMDLID LTPRQKERAA SPHQVTPQAD EKMPVLESSS WPASKGLGHM
2510 2520 2530 2540 2550
PRAVEKGCVS DPLQTSGKAA APSEDPWQAV KSLTQARLLS QPPAKAFLYE
2560 2570 2580 2590 2600
PTTQASGRAS AGAEQTPGPL SQSPGLVKQA KQMVGGQQLP ALAAKSGQSF
2610 2620 2630 2640 2650
RSLGKAPASL PTEEKKLVTT EQSPWALGKA SSRAGLWPIV AGQTLAQSCW
2660 2670 2680 2690
SAGSTQTLAQ TCWSLGRGQD PKPEQNTLPA LNQAPSSHKC AESEQK
Length:2,696
Mass (Da):296,652
Last modified:December 1, 2001 - v1
Checksum:i4E80E6DCD9A24C81
GO
Isoform 2 (identifier: Q96L73-2) [UniParc]FASTAAdd to basket
Also known as: ARA267-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-269: Missing.
     270-279: QLNSINLSFQ → MPLKTRTALS

Show »
Length:2,427
Mass (Da):267,340
Checksum:i396219A152666E8E
GO
Isoform 3 (identifier: Q96L73-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-412: Missing.

Show »
Length:2,593
Mass (Da):284,264
Checksum:iC8B8A25ECD80728A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1306H → D in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1397P → Q in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1478A → V in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1959 – 1960KT → QE in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti1963K → R in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1982R → M in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1986 – 1991RYAQEH → KHAHEN in AAK92049 (PubMed:11493482).Curated6
Sequence conflicti1995N → H in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2001L → I in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2016A → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2022C → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2030Q → L in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2033S → T in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2045 – 2046LS → VC in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti2049K → P in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2061E → D in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2066G → E in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2071K → R in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2075P → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2304 – 2305TK → AQ in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti2352R → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2539L → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2543P → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2567 – 2591PGPLS…QQLPA → QGFFTKSPALVENKGKTKWV GRPTNYLH in AAK92049 (PubMed:11493482).CuratedAdd BLAST25
Sequence conflicti2597G → W in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2608 – 2612ASLPT → PSSPN in AAK92049 (PubMed:11493482).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015775614V → L.1 PublicationCorresponds to variant rs3733875dbSNPEnsembl.1
Natural variantiVAR_015776691A → T.1 PublicationCorresponds to variant rs28932177dbSNPEnsembl.1
Natural variantiVAR_015777726S → P.2 PublicationsCorresponds to variant rs28932178dbSNPEnsembl.1
Natural variantiVAR_0157781036A → P.1 PublicationCorresponds to variant rs28932179dbSNPEnsembl.1
Natural variantiVAR_0157791091L → I.1 PublicationCorresponds to variant rs35597015dbSNPEnsembl.1
Natural variantiVAR_0157801616H → L in SOTOS1. 1 Publication1
Natural variantiVAR_0157811637L → P in SOTOS1. 1 Publication1
Natural variantiVAR_0157821674C → W in SOTOS1. 1 Publication1
Natural variantiVAR_0157831687I → N in SOTOS1. 1 Publication1
Natural variantiVAR_0157841792G → V in SOTOS1. 1 Publication1
Natural variantiVAR_0157851925C → R in SOTOS1. 1 Publication1
Natural variantiVAR_0157861955G → D in SOTOS1. 1 Publication1
Natural variantiVAR_0157871984R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant rs587784169dbSNPEnsembl.1
Natural variantiVAR_0157881997Y → C in SOTOS1. 1 Publication1
Natural variantiVAR_0157892005R → Q in SOTOS1; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant rs587784174dbSNPEnsembl.1
Natural variantiVAR_0157902017R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant rs587784177dbSNPEnsembl.1
Natural variantiVAR_0157912017R → W in SOTOS1. 1 PublicationCorresponds to variant rs587784176dbSNPEnsembl.1
Natural variantiVAR_0157922143H → Q in SOTOS1. 1 PublicationCorresponds to variant rs121908068dbSNPEnsembl.1
Natural variantiVAR_0157932183C → S in SOTOS1. 1 PublicationCorresponds to variant rs121908069dbSNPEnsembl.1
Natural variantiVAR_0157942250M → I.1 PublicationCorresponds to variant rs35848863dbSNPEnsembl.1
Natural variantiVAR_0157952261M → T.1 PublicationCorresponds to variant rs34165241dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0076821 – 269Missing in isoform 2. 1 PublicationAdd BLAST269
Alternative sequenceiVSP_007683270 – 279QLNSINLSFQ → MPLKTRTALS in isoform 2. 1 Publication10
Alternative sequenceiVSP_007684310 – 412Missing in isoform 3. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF380302 mRNA. Translation: AAL27991.1.
AY049721 mRNA. Translation: AAL06645.1.
AF395588 mRNA. Translation: AAL40694.1.
AF322907 mRNA. Translation: AAK92049.1.
CCDSiCCDS4412.1. [Q96L73-1]
CCDS4413.1. [Q96L73-2]
RefSeqiNP_071900.2. NM_022455.4. [Q96L73-1]
NP_758859.1. NM_172349.2. [Q96L73-2]
UniGeneiHs.106861.

Genome annotation databases

EnsembliENST00000347982; ENSP00000343209; ENSG00000165671. [Q96L73-2]
ENST00000354179; ENSP00000346111; ENSG00000165671. [Q96L73-2]
ENST00000439151; ENSP00000395929; ENSG00000165671. [Q96L73-1]
GeneIDi64324.
KEGGihsa:64324.
UCSCiuc003mfr.5. human. [Q96L73-1]

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:
EMBLi
GenBanki
DDBJi
Links Updated
AF380302 mRNA. Translation: AAL27991.1.
AY049721 mRNA. Translation: AAL06645.1.
AF395588 mRNA. Translation: AAL40694.1.
AF322907 mRNA. Translation: AAK92049.1.
CCDSiCCDS4412.1. [Q96L73-1]
CCDS4413.1. [Q96L73-2]
RefSeqiNP_071900.2. NM_022455.4. [Q96L73-1]
NP_758859.1. NM_172349.2. [Q96L73-2]
UniGeneiHs.106861.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OOIX-ray1.75A1852-2082[»]
ProteinModelPortaliQ96L73.
SMRiQ96L73.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122135. 38 interactors.
DIPiDIP-58517N.
IntActiQ96L73. 7 interactors.
STRINGi9606.ENSP00000395929.

Chemistry databases

ChEMBLiCHEMBL3588738.

PTM databases

iPTMnetiQ96L73.
PhosphoSitePlusiQ96L73.

Polymorphism and mutation databases

BioMutaiNSD1.
DMDMi32469769.

Proteomic databases

EPDiQ96L73.
MaxQBiQ96L73.
PaxDbiQ96L73.
PeptideAtlasiQ96L73.
PRIDEiQ96L73.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347982; ENSP00000343209; ENSG00000165671. [Q96L73-2]
ENST00000354179; ENSP00000346111; ENSG00000165671. [Q96L73-2]
ENST00000439151; ENSP00000395929; ENSG00000165671. [Q96L73-1]
GeneIDi64324.
KEGGihsa:64324.
UCSCiuc003mfr.5. human. [Q96L73-1]

Organism-specific databases

CTDi64324.
DisGeNETi64324.
GeneCardsiNSD1.
GeneReviewsiNSD1.
HGNCiHGNC:14234. NSD1.
HPAiCAB017491.
MalaCardsiNSD1.
MIMi117550. phenotype.
130650. phenotype.
606681. gene.
neXtProtiNX_Q96L73.
OpenTargetsiENSG00000165671.
Orphaneti228415. 5q35 microduplication syndrome.
238613. Beckwith-Wiedemann syndrome due to NSD1 mutation.
821. Sotos syndrome.
3447. Weaver syndrome.
PharmGKBiPA31790.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1081. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000113857.
HOVERGENiHBG007518.
InParanoidiQ96L73.
KOiK15588.
OMAiFICNECR.
OrthoDBiEOG091G00XD.
PhylomeDBiQ96L73.
TreeFamiTF329088.

Enzyme and pathway databases

BioCyciZFISH:HS09264-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
SIGNORiQ96L73.

Miscellaneous databases

ChiTaRSiNSD1. human.
GenomeRNAii64324.
PROiQ96L73.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165671.
CleanExiHS_NSD1.
ExpressionAtlasiQ96L73. baseline and differential.
GenevisibleiQ96L73. HS.

Family and domain databases

Gene3Di3.30.40.10. 3 hits.
InterProiIPR006560. AWS_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.
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.
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. 2 hits.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNSD1_HUMAN
AccessioniPrimary (citable) accession number: Q96L73
Secondary accession number(s): Q96PD8, Q96RN7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 162 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 5
    Human chromosome 5: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.