1. Gene
  2. NSD3 - nuclear receptor binding SET domain protein 3 Gene

NSD3 - nuclear receptor binding SET domain protein 3 Gene

Homo sapiens

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

Gene ID: 54904 | Gene type: protein coding

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 Reference 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 Reference Source
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
21555454 GOA
Cellular Component GO Annotation Evidence Reference 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

PWWP: PWWP domain (268 - 377)

PWWP

PWWP: PWWP domain (960 - 1046)

SET

SET: SET domain (1156 - 1262)

  • 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 Reference
Intra
NSD3 Q9BZ95 HEL25 Homo sapiens V9HWG0 25416956
Intra
NSD3 Q9BZ95 HEL25 Homo sapiens V9HWG0 25416956
Intra
NSD3 Q9BZ95 RAD51 Homo sapiens Q06609
IF
25640309
Intra
NSD3 Q9BZ95 RAD51 Homo sapiens Q06609 25640309
Intra
NSD3 Q9BZ95 HOXC4 Homo sapiens P09017 23455924
Intra
NSD3 Q9BZ95 HOXC4 Homo sapiens P09017
Y2H
23455924
Intra
NSD3 Q9BZ95 ATM Homo sapiens Q13315 25640309
Intra
NSD3 Q9BZ95 MLLT6 Homo sapiens Q6P2C6 25416956
Intra
NSD3 Q9BZ95 DAXX Homo sapiens Q9UER7
Y2H
23455924
Intra
NSD3 Q9BZ95 DAXX Homo sapiens Q9UER7 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

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