NSD3 - nuclear receptor binding SET domain protein 3 Gene

Also Known as KMT3F; KMT3G; WHISTLE; WHSC1L1; pp14328

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54904

About NSD3

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,269,704-38,382,271 (from NCBI)

This gene has 12 transcripts (splice variants), 236 orthologues, 19 paralogues and is associated with 80 phenotypes. Ubiquitous expression in ovary (RPKM 10.0), brain (RPKM 9.8) and 25 other tissues.

Summary

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

NSD3 Products (2)

mRNA	Protein	Name
NM_017778.3	NP_060248.2	histone-lysine N-methyltransferase NSD3 isoform short
NM_023034.2	NP_075447.1	histone-lysine N-methyltransferase NSD3 isoform long

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables histone H3K27 dimethyltransferase activity	IDA IDA: Inferred from direct assay	16682010	GOA
enables histone H3K27 trimethyltransferase activity	IDA IDA: Inferred from direct assay	16682010	GOA
enables histone H3K36 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	21555454	GOA
enables histone H3K4 dimethyltransferase activity	IDA IDA: Inferred from direct assay	16682010	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables transcription regulator activator activity	IMP IMP: Inferred from mutant phenotype	21555454	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	21555454	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IMP IMP: Inferred from mutant phenotype	21555454	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSD3 Protein Structure

PWWP

SET

0
300
600
900
1200
1437 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase NSD3	Wolf-Hirschhorn syndrome candidate 1-like 1

NSD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NSD3	Q9BZ95	HEL25	Homo sapiens	V9HWG0	Y2H Prey Pooling	25416956
Intra	NSD3	Q9BZ95	HEL25	Homo sapiens	V9HWG0	Y2H Array	25416956
Intra	NSD3	Q9BZ95	RAD51	Homo sapiens	Q06609	IF	25640309
Intra	NSD3	Q9BZ95	RAD51	Homo sapiens	Q06609	Anti Tag CoIP	25640309
Intra	NSD3	Q9BZ95	HOXC4	Homo sapiens	P09017	Anti Tag CoIP	23455924
Intra	NSD3	Q9BZ95	HOXC4	Homo sapiens	P09017	Y2H	23455924
Intra	NSD3	Q9BZ95	ATM	Homo sapiens	Q13315	Anti Bait CoIP	25640309
Intra	NSD3	Q9BZ95	MLLT6	Homo sapiens	Q6P2C6	Validated Y2H	25416956
Intra	NSD3	Q9BZ95	DAXX	Homo sapiens	Q9UER7	Y2H	23455924
Intra	NSD3	Q9BZ95	DAXX	Homo sapiens	Q9UER7	Anti Tag CoIP	23455924

Cross: Cross-species interaction Intra: Intraspecies interaction

NSD3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83329	NSD3 Antibody (YA3074)	WB, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Childhood Acute Myeloid Leukemia	Childhood Acute Myeloid Leukaemia Paediatric Acute Myeloid Leukaemia Pediatric Acute Myeloid Leukemia
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
Non-Syndromic X-Linked Intellectual Disability 63	Acsl4-Related Intellectual Disability Mrx63 Mrx68 X-Linked Mental Retardation 68
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Kleefstra Syndrome 1	9q Subtelomeric Deletion Syndrome KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds Kleefstra Syndrome Due To 9q Subtelomeric Deletion Kleefstra Syndrome Due To Del(9)(Q34) Kleefstra Syndrome Due To Monosomy 9q34 Chromosome 9q Subtelomeric Deletion Syndrome Kleefstra Syndrome, Type 1
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (16)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114208A	BI-9321 trihydrochloride	Antagonist	99.83%	Unkown
HY-114340	LEM-14		98.02%	Unkown
HY-155815	MS9715		99.48%	Unkown
HY-162308	NSD-IN-3		98.0%	Unkown
HY-142095	NSD3-IN-3	Inhibitor	98.0%	Unkown
HY-125244	LEM-14-1189	Inhibitor	99.76%	Unkown
HY-155816	PROTAC NSD3 degrader-1		99.40%	Unkown
HY-114208	BI-9321	Antagonist	/	Unkown
HY-142093	NSD3-IN-1	Inhibitor	/	Unkown
HY-142094	NSD3-IN-2	Inhibitor	/	Unkown
HY-168920	NSD-IN-4		/	Unkown
HY-RS09589	NSD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-142048	BI-9466	Antagonist	/	Unkown
HY-175630	BI-9321-C10-acid	Ligand	/	Unkown
HY-RS17221	Nsd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23674	Nsd3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NSD3	VGNC	VGNC:43982
Bos taurus	NSD3	VGNC	VGNC:32273
Macaca mulatta	NSD3	VGNC	VGNC:75398
Rattus norvegicus	NSD3	RGD	RGD:1308980
Felis catus	NSD3	VGNC	VGNC:63886
Mus musculus	NSD3	MGD	MGI:2142581
Others	NSD3	NCBI