Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64324
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor binding SET domain protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSD1
Synonyms (NCBI Gene) Gene synonyms aliases
ARA267, KMT3B, SOTOS, SOTOS1, STO
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61756006 T>C Likely-benign, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant
rs113856002 A>G Likely-benign, conflicting-interpretations-of-pathogenicity 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121908067 C>G Pathogenic Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs121908068 C>G,T Likely-benign, pathogenic Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121908069 G>C Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046367 hsa-miR-23b-3p CLASH 23622248
MIRT045467 hsa-miR-149-5p CLASH 23622248
MIRT045301 hsa-miR-186-5p CLASH 23622248
MIRT040128 hsa-miR-615-3p CLASH 23622248
MIRT040128 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 20837538
GO:0003682 Function Chromatin binding ISS
GO:0003712 Function Transcription coregulator activity IDA 11509567
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606681 14234 ENSG00000165671
Protein
UniProt ID Q96L73
Protein name Histone-lysine N-methyltransferase, H3 lysine-36 specific (EC 2.1.1.357) (Androgen receptor coactivator 267 kDa protein) (Androgen receptor-associated protein of 267 kDa) (H3-K36-HMTase) (Lysine N-methyltransferase 3B) (Nuclear receptor-binding SET domain
Protein function Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. {ECO:0000269|PubMed:21196496}
PDB 3OOI , 6KQP , 6KQQ , 8C5L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00855 PWWP 321 431 PWWP domain Domain
PF00855 PWWP 1754 1846 PWWP domain Domain
PF17907 AWS 1901 1939 AWS domain Domain
PF00856 SET 1953 2059 SET domain Family
PF17982 C5HCH 2161 2210 NSD Cys-His rich domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
Sequence
MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNA
YGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGG
PTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI
EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQ
RNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSS
SSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRP
YRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSK
WEASVGLAEQY
DVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLA
FDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISG
DISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALIS
KCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDN
SVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAE
PGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKGGAANQALLHS
KSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLN
NMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIP
IEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGG
STHNSEKKGDGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRN
CGRSKPSSKLRDAFSAQMVKNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRG
GAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSV
MNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGR
DEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQA
ELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLAR
GRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPE
VSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGH
LENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEG
ELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEA
QCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECV
QKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSK
ILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPE
GNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFG
SNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFE
ELKAQKELRQLQED
RKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYEC
HPTVCPAGGRCQNQCFSKR
QYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEE
CRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRV
GLFALSDIKAGTELTFNYN
LECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFK
KKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECP
WHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIRE
YVPPPVPLPPGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPE
RPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPS
SSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKP
QTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLID
LTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAA
APSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQA
KQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIV
AGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK
Sequence length 2696
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysine degradation
Metabolic pathways
  PKMTs methylate histone lysines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Beckwith-Wiedemann Syndrome beckwith-wiedemann syndrome rs1060501490, rs1554190214, rs587784104, rs1554189512, rs1064794051, rs1554190247, rs1554202205, rs1554189490, rs1581319715, rs1554204952, rs878855075, rs1554204923, rs1562097849, rs1060501492, rs878855077
View all (7 more)
N/A
Sotos` Syndrome sotos syndrome rs121908070, rs587784187, rs1554204122, rs587784140, rs886041219, rs587784101, rs797045807, rs797045819, rs587784079, rs587784201, rs1562305653, rs587784151, rs1554204921, rs587784115, rs1554199368
View all (212 more)
N/A
acute myeloid leukemia Acute myeloid leukemia rs1057520339 N/A
Mental retardation intellectual disability rs587784092 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Choroid Plexus Carcinoma choroid plexus carcinoma N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 16247291
Adenocarcinoma of Lung Associate 21151896
Alcohol Related Disorders Associate 16780628
Attention Deficit Disorder with Hyperactivity Associate 16780628
Autism Spectrum Disorder Associate 18001468
Autistic Disorder Associate 18001468
Beckwith Wiedemann Syndrome Associate 14997421
Bohring syndrome Associate 32938993
Breast Neoplasms Associate 29973584
Brugada Syndrome Associate 37114354