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Q96L73

- NSD1_HUMAN

UniProt

Q96L73 - NSD1_HUMAN

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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: 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei2065 – 20651S-adenosyl-L-methionine1 PublicationPROSITE-ProRule annotation
Binding sitei2071 – 20711S-adenosyl-L-methionine1 PublicationPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1543 – 158947PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1590 – 164657PHD-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1707 – 175145PHD-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri2118 – 216548PHD-type 4; atypicalPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. androgen receptor binding Source: UniProtKB
  2. chromatin binding Source: UniProtKB
  3. estrogen receptor binding Source: UniProtKB
  4. histone methyltransferase activity (H3-K36 specific) Source: UniProtKB
  5. histone methyltransferase activity (H4-K20 specific) Source: UniProtKB
  6. retinoic acid receptor binding Source: UniProtKB
  7. retinoid X receptor binding Source: UniProtKB
  8. thyroid hormone receptor binding Source: UniProtKB
  9. transcription cofactor activity Source: UniProtKB
  10. transcription corepressor activity Source: UniProtKB
  11. zinc ion binding Source: UniProtKB

GO - Biological processi

  1. gastrulation with mouth forming second Source: Ensembl
  2. histone H3-K36 methylation Source: GOC
  3. histone H4-K20 methylation Source: GOC
  4. histone methylation Source: UniProtKB
  5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. 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

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:14234. NSD1.

Subcellular locationi

GO - Cellular componenti

  1. chromosome Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Sotos syndrome 1 (SOTOS1) [MIM:117550]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1616 – 16161H → L in SOTOS1. 1 Publication
VAR_015780
Natural varianti1637 – 16371L → P in SOTOS1. 1 Publication
VAR_015781
Natural varianti1674 – 16741C → W in SOTOS1. 1 Publication
VAR_015782
Natural varianti1687 – 16871I → N in SOTOS1. 1 Publication
VAR_015783
Natural varianti1792 – 17921G → V in SOTOS1. 1 Publication
VAR_015784
Natural varianti1925 – 19251C → R in SOTOS1. 1 Publication
VAR_015785
Natural varianti1955 – 19551G → D in SOTOS1. 1 Publication
VAR_015786
Natural varianti1984 – 19841R → Q in SOTOS1; loss of enzyme activity. 1 Publication
VAR_015787
Natural varianti1997 – 19971Y → C in SOTOS1. 1 Publication
VAR_015788
Natural varianti2005 – 20051R → Q in SOTOS1; strongly reduced enzyme activity. 1 Publication
VAR_015789
Natural varianti2017 – 20171R → Q in SOTOS1; loss of enzyme activity. 1 Publication
VAR_015790
Natural varianti2017 – 20171R → W in SOTOS1. 1 Publication
VAR_015791
Natural varianti2143 – 21431H → Q in SOTOS1. 1 Publication
VAR_015792
Natural varianti2183 – 21831C → S in SOTOS1. 1 Publication
VAR_015793
Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1914 – 19141R → C: Reduced enzyme activity. 1 Publication
Mutagenesisi1952 – 19521R → W: Nearly abolished enzyme activity. 1 Publication

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 26962696Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificPRO_0000186070Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei483 – 4831Phosphoserine1 Publication
Modified residuei486 – 4861Phosphoserine1 Publication
Modified residuei766 – 7661Phosphoserine1 Publication
Modified residuei2462 – 24621Phosphothreonine1 Publication
Modified residuei2471 – 24711Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96L73.
PaxDbiQ96L73.
PRIDEiQ96L73.

PTM databases

PhosphoSiteiQ96L73.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96L73.
CleanExiHS_NSD1.
ExpressionAtlasiQ96L73. baseline and differential.
GenevestigatoriQ96L73.

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

Protein-protein interaction databases

BioGridi122135. 24 interactions.
DIPiDIP-58517N.
IntActiQ96L73. 2 interactions.
STRINGi9606.ENSP00000348031.

Structurei

Secondary structure

1
2696
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1852 – 186312
Helixi1889 – 18913
Beta strandi1901 – 19033
Helixi1912 – 19154
Turni1922 – 19243
Helixi1928 – 19303
Helixi1935 – 19384
Beta strandi1944 – 19485
Beta strandi1950 – 196011
Beta strandi1967 – 19704
Beta strandi1973 – 19764
Helixi1978 – 199013
Beta strandi1998 – 20025
Beta strandi2005 – 20139
Helixi2015 – 20184
Beta strandi2026 – 20349
Beta strandi2037 – 204610

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3OOIX-ray1.75A1852-2082[»]
ProteinModelPortaliQ96L73.
SMRiQ96L73. Positions 320-394, 1540-1588, 1706-1748, 1753-1850, 1852-2082, 2118-2210.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini323 – 38866PWWP 1PROSITE-ProRule annotationAdd
BLAST
Domaini1756 – 181863PWWP 2PROSITE-ProRule annotationAdd
BLAST
Domaini1890 – 194051AWSPROSITE-ProRule annotationAdd
BLAST
Domaini1942 – 2059118SETPROSITE-ProRule annotationAdd
BLAST
Domaini2066 – 208217Post-SETPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1952 – 19543S-adenosyl-L-methionine binding
Regioni1994 – 19974S-adenosyl-L-methionine binding
Regioni2020 – 20212S-adenosyl-L-methionine binding
Regioni2060 – 20667Inhibits enzyme activity in the absence of bound histone

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2207 – 2421215Pro-richAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1543 – 158947PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1590 – 164657PHD-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1707 – 175145PHD-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri2118 – 216548PHD-type 4; atypicalPROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG2940.
GeneTreeiENSGT00760000118855.
HOGENOMiHOG000113857.
HOVERGENiHBG007518.
InParanoidiQ96L73.
KOiK15588.
OMAiECRTGIH.
OrthoDBiEOG7Z69BG.
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.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00628. PHD. 1 hit.
PF00855. 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.
SM00184. RING. 1 hit.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1306 – 13061H → D in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1397 – 13971P → Q in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1478 – 14781A → V in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1959 – 19602KT → QE in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1963 – 19631K → R in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1982 – 19821R → M in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1986 – 19916RYAQEH → KHAHEN in AAK92049. (PubMed:11493482)Curated
Sequence conflicti1995 – 19951N → H in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2001 – 20011L → I in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2016 – 20161A → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2022 – 20221C → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2030 – 20301Q → L in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2033 – 20331S → T in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2045 – 20462LS → VC in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2049 – 20491K → P in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2061 – 20611E → D in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2066 – 20661G → E in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2071 – 20711K → R in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2075 – 20751P → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2304 – 23052TK → AQ in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2352 – 23521R → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2539 – 25391L → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2543 – 25431P → S in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2567 – 259125PGPLS…QQLPA → QGFFTKSPALVENKGKTKWV GRPTNYLH in AAK92049. (PubMed:11493482)CuratedAdd
BLAST
Sequence conflicti2597 – 25971G → W in AAK92049. (PubMed:11493482)Curated
Sequence conflicti2608 – 26125ASLPT → PSSPN in AAK92049. (PubMed:11493482)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti614 – 6141V → L.1 Publication
Corresponds to variant rs3733875 [ dbSNP | Ensembl ].
VAR_015775
Natural varianti691 – 6911A → T.1 Publication
Corresponds to variant rs28932177 [ dbSNP | Ensembl ].
VAR_015776
Natural varianti726 – 7261S → P.2 Publications
Corresponds to variant rs28932178 [ dbSNP | Ensembl ].
VAR_015777
Natural varianti1036 – 10361A → P.1 Publication
Corresponds to variant rs28932179 [ dbSNP | Ensembl ].
VAR_015778
Natural varianti1091 – 10911L → I.1 Publication
Corresponds to variant rs35597015 [ dbSNP | Ensembl ].
VAR_015779
Natural varianti1616 – 16161H → L in SOTOS1. 1 Publication
VAR_015780
Natural varianti1637 – 16371L → P in SOTOS1. 1 Publication
VAR_015781
Natural varianti1674 – 16741C → W in SOTOS1. 1 Publication
VAR_015782
Natural varianti1687 – 16871I → N in SOTOS1. 1 Publication
VAR_015783
Natural varianti1792 – 17921G → V in SOTOS1. 1 Publication
VAR_015784
Natural varianti1925 – 19251C → R in SOTOS1. 1 Publication
VAR_015785
Natural varianti1955 – 19551G → D in SOTOS1. 1 Publication
VAR_015786
Natural varianti1984 – 19841R → Q in SOTOS1; loss of enzyme activity. 1 Publication
VAR_015787
Natural varianti1997 – 19971Y → C in SOTOS1. 1 Publication
VAR_015788
Natural varianti2005 – 20051R → Q in SOTOS1; strongly reduced enzyme activity. 1 Publication
VAR_015789
Natural varianti2017 – 20171R → Q in SOTOS1; loss of enzyme activity. 1 Publication
VAR_015790
Natural varianti2017 – 20171R → W in SOTOS1. 1 Publication
VAR_015791
Natural varianti2143 – 21431H → Q in SOTOS1. 1 Publication
VAR_015792
Natural varianti2183 – 21831C → S in SOTOS1. 1 Publication
VAR_015793
Natural varianti2250 – 22501M → I.1 Publication
Corresponds to variant rs35848863 [ dbSNP | Ensembl ].
VAR_015794
Natural varianti2261 – 22611M → T.1 Publication
Corresponds to variant rs34165241 [ dbSNP | Ensembl ].
VAR_015795

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 269269Missing in isoform 2. 1 PublicationVSP_007682Add
BLAST
Alternative sequencei270 – 27910QLNSINLSFQ → MPLKTRTALS in isoform 2. 1 PublicationVSP_007683
Alternative sequencei310 – 412103Missing in isoform 3. 1 PublicationVSP_007684Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
XP_005266016.1. XM_005265959.1. [Q96L73-1]
XP_005266017.1. XM_005265960.1. [Q96L73-2]
XP_005266018.1. XM_005265961.1. [Q96L73-2]
XP_006714964.1. XM_006714901.1. [Q96L73-1]
XP_006714965.1. XM_006714902.1. [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.4. human. [Q96L73-1]
uc003mfs.1. human. [Q96L73-3]
uc003mft.4. human. [Q96L73-2]

Polymorphism databases

DMDMi32469769.

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:
EMBL
GenBank
DDBJ
Links Updated
AF380302 mRNA. Translation: AAL27991.1 .
AY049721 mRNA. Translation: AAL06645.1 .
AF395588 mRNA. Translation: AAL40694.1 .
AF322907 mRNA. Translation: AAK92049.1 .
CCDSi CCDS4412.1. [Q96L73-1 ]
CCDS4413.1. [Q96L73-2 ]
RefSeqi NP_071900.2. NM_022455.4. [Q96L73-1 ]
NP_758859.1. NM_172349.2. [Q96L73-2 ]
XP_005266016.1. XM_005265959.1. [Q96L73-1 ]
XP_005266017.1. XM_005265960.1. [Q96L73-2 ]
XP_005266018.1. XM_005265961.1. [Q96L73-2 ]
XP_006714964.1. XM_006714901.1. [Q96L73-1 ]
XP_006714965.1. XM_006714902.1. [Q96L73-2 ]
UniGenei Hs.106861.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3OOI X-ray 1.75 A 1852-2082 [» ]
ProteinModelPortali Q96L73.
SMRi Q96L73. Positions 320-394, 1540-1588, 1706-1748, 1753-1850, 1852-2082, 2118-2210.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122135. 24 interactions.
DIPi DIP-58517N.
IntActi Q96L73. 2 interactions.
STRINGi 9606.ENSP00000348031.

PTM databases

PhosphoSitei Q96L73.

Polymorphism databases

DMDMi 32469769.

Proteomic databases

MaxQBi Q96L73.
PaxDbi Q96L73.
PRIDEi Q96L73.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000347982 ; ENSP00000343209 ; ENSG00000165671 . [Q96L73-2 ]
ENST00000354179 ; ENSP00000346111 ; ENSG00000165671 . [Q96L73-2 ]
ENST00000439151 ; ENSP00000395929 ; ENSG00000165671 . [Q96L73-1 ]
GeneIDi 64324.
KEGGi hsa:64324.
UCSCi uc003mfr.4. human. [Q96L73-1 ]
uc003mfs.1. human. [Q96L73-3 ]
uc003mft.4. human. [Q96L73-2 ]

Organism-specific databases

CTDi 64324.
GeneCardsi GC05P176560.
GeneReviewsi NSD1.
HGNCi HGNC:14234. NSD1.
MIMi 117550. phenotype.
130650. phenotype.
606681. gene.
neXtProti NX_Q96L73.
Orphaneti 228415. 5q35 microduplication syndrome.
238613. Beckwith-Wiedemann syndrome due to NSD1 mutation.
821. Sotos syndrome.
3447. Weaver syndrome.
PharmGKBi PA31790.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2940.
GeneTreei ENSGT00760000118855.
HOGENOMi HOG000113857.
HOVERGENi HBG007518.
InParanoidi Q96L73.
KOi K15588.
OMAi ECRTGIH.
OrthoDBi EOG7Z69BG.
PhylomeDBi Q96L73.
TreeFami TF329088.

Miscellaneous databases

ChiTaRSi NSD1. human.
GenomeRNAii 64324.
NextBioi 66241.
PROi Q96L73.
SOURCEi Search...

Gene expression databases

Bgeei Q96L73.
CleanExi HS_NSD1.
ExpressionAtlasi Q96L73. baseline and differential.
Genevestigatori Q96L73.

Family and domain databases

Gene3Di 3.30.40.10. 3 hits.
InterProi IPR006560. 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.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF00628. PHD. 1 hit.
PF00855. PWWP. 2 hits.
PF00856. SET. 1 hit.
[Graphical view ]
SMARTi SM00570. AWS. 1 hit.
SM00249. PHD. 5 hits.
SM00508. PostSET. 1 hit.
SM00293. PWWP. 2 hits.
SM00184. RING. 1 hit.
SM00317. SET. 1 hit.
[Graphical view ]
SUPFAMi SSF57903. SSF57903. 3 hits.
PROSITEi PS51215. 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells."
    Wang X., Yeh S., Wu G., Hsu C.-L., Wang L., Chang T., Yang Y., Guo Y., Chang C.
    J. Biol. Chem. 276:40417-40423(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH AR.
  2. "Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene."
    Kurotaki N., Harada N., Yoshiura K., Sugano S., Niikawa N., Matsumoto N.
    Gene 279:197-204(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia."
    Jaju R.J., Fidler C., Haas O.A., Strickson A.J., Watkins F., Clark K., Cross N.C., Cheng J.F., Aplan P.D., Kearney L., Boultwood J., Wainscoat J.S.
    Blood 98:1264-1267(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), CHROMOSOMAL TRANSLOCATION WITH NUP98.
  4. Cited for: INVOLVEMENT IN SOTOS1.
  5. "Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome."
    Baujat G., Rio M., Rossignol S., Sanlaville D., Lyonnet S., Le Merrer M., Munnich A., Gicquel C., Cormier-Daire V., Colleaux L.
    Am. J. Hum. Genet. 74:715-720(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SOTOS1 AND BWS.
  6. "Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts."
    La Starza R., Gorello P., Rosati R., Riezzo A., Veronese A., Ferrazzi E., Martelli M.F., Negrini M., Mecucci C.
    Genes Chromosomes Cancer 41:395-399(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MYELODYSPLASTIC SYNDROME.
  7. "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
    Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.
    Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Prostate cancer.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2471, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "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].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "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-2462, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "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-483 AND SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation."
    Qiao Q., Li Y., Chen Z., Wang M., Reinberg D., Xu R.M.
    J. Biol. Chem. 286:8361-8368(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 1852-2082 IN COMPLEX WITH S-ADENOSYL-L-METHIONINE AND ZINC IONS, FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF ARG-1914 AND ARG-1952, CHARACTERIZATION OF SOTOS1 VARIANTS GLN-1984; GLN-2005 AND GLN-2017.
  14. "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes."
    Douglas J., Hanks S., Temple I.K., Davies S., Murray A., Upadhyaya M., Tomkins S., Hughes H.E., Cole T.R.P., Rahman N.
    Am. J. Hum. Genet. 72:132-143(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SOTOS1 LEU-1616; PRO-1637; TRP-1674; VAL-1792; ARG-1925; GLN-2005; GLN-2017; GLN-2143 AND SER-2183, VARIANTS LEU-614; THR-691; PRO-726; PRO-1036; ILE-1091; ILE-2250 AND THR-2261.
  15. Cited for: VARIANTS SOTOS1 ASN-1687; ASP-1955; GLN-1984; CYS-1997 AND TRP-2017.
  16. Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-726.

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: October 29, 2014
This is version 139 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

External Data

Dasty 3