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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046436
Ensembl Protein ID ENSP00000395929.2
UniProt Accession Q96L73; Q96PD8; Q96RN7; NSD1_HUMAN
Genbank Protein ID AAL27991.1; AAL06645.1; AAL40694.1; AAK92049.1
Protein Name Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; 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
Genbank Nucleotide ID AF380302; AY049721; AF395588; AF322907
Gene Name NSD1; ARA267; KMT3B
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000165671.18 ENST00000439151.6 ENSP00000395929.2
ENSG00000165671.18 ENST00000511258.5 ENSP00000426428.1
ENSG00000165671.18 ENST00000347982.8 ENSP00000343209.4
ENSG00000165671.18 ENST00000375350.3 ENSP00000364499.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRWalkTargetScanRepTarSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Drug and target
TTDGRAC
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 activity/RING/PHD 5.60e-14 53.7 1709 1749
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD

   S: 3    vClvCgeggedekslveCekCrewfHpaClklsveeelpnsekwiCpkCr 52
    +C vC egg+ l++C+ C +fH +Cl++ p+ + w+C++C+
   Q: 1709 WCFVCSEGGS----LLCCDSCPAAFHRECLNID----IPEGN-WYCNDCK 1749
    8*********....*******************....99996.******8 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     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.
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.
Protein Sequence
(Fasta)
MDQTCELPRR NCLLPFSNPV NLDAPEDKDS PFGNGQSNFS EPLNGCTMQL STVSGTSQNA 60
YGQDSPSCYI PLRRLQDLAS MINVEYLNGS ADGSESFQDP EKSDSRAQTP IVCTSLSPGG 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046436|E3,PHD|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CTGCTCAGCT TGGTCTGTGG TGGTGGTGGT GGTGGTGGTG TGGGTTTGGG GTGCGGCCGG 60
GTAGGGGGTT CGCCTGCGGC CGCGTCTGCT CGGGGCCTGA GGCCTCGAAG ACCCCAGCCC 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046436|E3,PHD|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0010--Activator
KW-0025--Alternative splicing
KW-0156--Chromatin regulator
KW-0160--Chromosomal rearrangement
KW-0158--Chromosome
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-1017--Isopeptide bond
KW-0479--Metal-binding
KW-0489--Methyltransferase
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0656--Proto-oncogene
KW-1185--Reference proteome
KW-0677--Repeat
KW-0678--Repressor
KW-0949--S-adenosyl-L-methionine
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0808--Transferase
KW-0832--Ubl conjugation
KW-0862--Zinc
KW-0863--Zinc-finger

Interpro

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
IPR013083--Znf_RING/FYVE/PHD

PROSITE

PS51215--AWS
PS50868--POST_SET
PS50812--PWWP
PS50280--SET
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2

Pfam

PF00855--PWWP
PF00856--SET

SMART

SM00570--AWS
SM00249--PHD
SM00508--PostSET
SM00293--PWWP
SM00317--SET

Gene Ontology

GO:0005694--C:chromosome
GO:0005654--C:nucleoplasm
GO:0050681--F:androgen receptor binding
GO:0003682--F:chromatin binding
GO:0030331--F:estrogen receptor binding
GO:0046975--F:histone methyltransferase activity (H3-K36 specific)
GO:0042799--F:histone methyltransferase activity (H4-K20 specific)
GO:0018024--F:histone-lysine N-methyltransferase activity
GO:0042974--F:retinoic acid receptor binding
GO:0046965--F:retinoid X receptor binding
GO:0000979--F:RNA polymerase II core promoter sequence-specific DNA binding
GO:0046966--F:thyroid hormone receptor binding
GO:0003712--F:transcription cofactor activity
GO:0003714--F:transcription corepressor activity
GO:0008270--F:zinc ion binding
GO:0016571--P:histone methylation
GO:0000122--P:negative regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0000414--P:regulation of histone H3-K36 methylation
GO:0033135--P:regulation of peptidyl-serine phosphorylation
GO:1903025--P:regulation of RNA polymerase II regulatory region sequence-specific DNA binding
GO:0006351--P:transcription, DNA-templated

KEGG hsa:64324
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001795 Ailuropoda melanoleuca 91.71 0.00e+00 4759.00
IUUC-Apl-003953 Anas platyrhynchos 57.14 0.00e+00 2241.00
IUUC-Aca-005339 Anolis carolinensis 50.52 0.00e+00 1753.00
IUUC-Bta-012966 Bos taurus 90.86 0.00e+00 4798.00
IUUC-Bol-016001 Brassica oleracea 29.51 4.00e-16 80.90
IUUC-Bra-017864 Brassica rapa 28.96 7.00e-15 77.40
IUUC-Cja-018780 Callithrix jacchus 95.88 0.00e+00 4745.00
IUUC-Cfa-020975 Canis familiaris 91.08 0.00e+00 4767.00
IUUC-Cpo-021331 Cavia porcellus 89.07 0.00e+00 2723.00
IUUC-Csa-024226 Chlorocebus sabaeus 97.72 0.00e+00 4546.00
IUUC-Cho-024464 Choloepus hoffmanni 75.55 0.00e+00 1379.00
IUUC-Dre-028152 Danio rerio 62.89 0.00e+00 1254.00
IUUC-Dno-029230 Dasypus novemcinctus 87.70 0.00e+00 4511.00
IUUC-Dor-031016 Dipodomys ordii 82.00 0.00e+00 1331.00
IUUC-Dme-032193 Drosophila melanogaster 36.87 9.00e-123 435.00
IUUC-Eca-033591 Equus caballus 90.62 0.00e+00 4193.00
IUUC-Fca-035791 Felis catus 91.52 0.00e+00 4864.00
IUUC-Fal-037378 Ficedula albicollis 57.25 0.00e+00 2043.00
IUUC-Gmo-038919 Gadus morhua 71.36 0.00e+00 938.00
IUUC-Gga-040881 Gallus gallus 60.04 0.00e+00 2152.00
IUUC-Gac-041378 Gasterosteus aculeatus 77.71 0.00e+00 1071.00
IUUC-Itr-048194 Ictidomys tridecemlineatus 89.90 0.00e+00 4248.00
IUUC-Lch-049684 Latimeria chalumnae 57.09 0.00e+00 1452.00
IUUC-Laf-054046 Loxodonta africana 89.58 0.00e+00 4088.00
IUUC-Mcc-055593 Macaca mulatta 97.89 0.00e+00 5118.00
IUUC-Mga-059756 Meleagris gallopavo 56.51 0.00e+00 2217.00
IUUC-Mmr-061182 Microcebus murinus 91.43 0.00e+00 4818.00
IUUC-Mdo-061984 Monodelphis domestica 68.59 0.00e+00 3024.00
IUUC-Mmu-063605 Mus musculus 83.71 0.00e+00 4354.00
IUUC-Mpu-066446 Mustela putorius furo 91.23 0.00e+00 4830.00
IUUC-Mlu-067261 Myotis lucifugus 89.28 0.00e+00 4653.00
IUUC-Nle-069818 Nomascus leucogenys 98.26 0.00e+00 4601.00
IUUC-Opr-070842 Ochotona princeps 85.26 0.00e+00 2374.00
IUUC-Ont-072448 Oreochromis niloticus 75.52 0.00e+00 1150.00
IUUC-Oan-073496 Ornithorhynchus anatinus 72.66 0.00e+00 1676.00
IUUC-Ocu-074918 Oryctolagus cuniculus 90.75 0.00e+00 4802.00
IUUC-Obr-076753 Oryza brachyantha 54.84 1.00e-07 53.50
IUUC-Ogl-077641 Oryza glaberrima 29.48 4.00e-10 58.90
IUUC-Ogu-078898 Oryza glumaepatula 29.48 4.00e-10 58.90
IUUC-Oin-079557 Oryza indica 29.48 4.00e-10 58.90
IUUC-Osa-085353 Oryza sativa 29.48 3.00e-10 59.30
IUUC-Ola-087518 Oryzias latipes 76.54 0.00e+00 1057.00
IUUC-Oga-088743 Otolemur garnettii 89.27 0.00e+00 4075.00
IUUC-Oar-090265 Ovis aries 90.64 0.00e+00 4791.00
IUUC-Ptr-090521 Pan troglodytes 99.63 0.00e+00 5233.00
IUUC-Psi-093245 Pelodiscus sinensis 59.61 0.00e+00 2070.00
IUUC-Pfo-096066 Poecilia formosa 76.48 0.00e+00 1205.00
IUUC-Pab-098644 Pongo abelii 98.38 0.00e+00 4578.00
IUUC-Pva-103094 Pteropus vampyrus 87.70 0.00e+00 2650.00
IUUC-Rno-105803 Rattus norvegicus 83.33 0.00e+00 3825.00
IUUC-Sha-107278 Sarcophilus harrisii 69.92 0.00e+00 3467.00
IUUC-Sar-113402 Sorex araneus 76.78 0.00e+00 2619.00
IUUC-Sbi-114400 Sorghum bicolor 36.54 6.00e-13 66.20
IUUC-Ssc-116193 Sus scrofa 90.57 0.00e+00 4140.00
IUUC-Tgu-116532 Taeniopygia guttata 90.00 0.00e+00 1256.00
IUUC-Tru-117988 Takifugu rubripes 75.00 0.00e+00 1200.00
IUUC-Tsy-118830 Tarsius syrichta 91.00 0.00e+00 3836.00
IUUC-Tca-121456 Theobroma cacao 30.33 2.00e-19 91.70
IUUC-Xma-133606 Xiphophorus maculatus 76.80 0.00e+00 1142.00
Created Date 25-Jun-2017

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