NSD1 - nuclear receptor binding SET domain protein 1 Gene
Also Known as STO; KMT3B; SOTOS; ARA267; SOTOS1
Species: Homo sapiens
About NSD1
This gene has 26 transcripts (splice variants), 300 orthologues, 19 paralogues and is associated with 133 phenotypes. Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues.
Summary
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 enhancement can be increased further in the presence of other Androgen Receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
NSD1 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001365684.2 | NP_001352613.2 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a |
| NM_001409301.1 | NP_001396230.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b |
| NM_001409302.1 | NP_001396231.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b |
| NM_001409303.1 | NP_001396232.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b |
| NM_001409304.1 | NP_001396233.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform c |
| NM_001409305.1 | NP_001396234.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform d |
| NM_001409306.1 | NP_001396235.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform e |
| NM_001409307.1 | NP_001396236.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform e |
| NM_001409308.1 | NP_001396237.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a |
| NM_001409309.1 | NP_001396238.1 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform f |
| NM_022455.5 | NP_071900.2 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b |
| NM_172349.5 | NP_758859.2 | histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
20837538 | GOA |
| enables histone H3K36 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
21196496 | GOA |
| enables histone H3K36 methyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
20837538 | GOA |
| enables nuclear androgen receptor binding |
IDA
IDA: Inferred from direct assay
|
11509567 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20080798 | GOA |
| enables transcription coregulator activity |
IDA
IDA: Inferred from direct assay
|
11509567 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
21196496 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
11509567 | GOA |
| acts upstream of or within regulation of RNA polymerase II regulatory region sequence-specific DNA binding |
IMP
IMP: Inferred from mutant phenotype
|
20837538 | GOA |
| acts upstream of or within regulation of peptidyl-serine phosphorylation |
IMP
IMP: Inferred from mutant phenotype
|
20837538 | GOA |
NSD1 Protein Structure
PWWP: PWWP domain (321 - 414)
PHD: PHD-finger (1709 - 1750)
PWWP: PWWP domain (1756 - 1842)
SET: SET domain (1953 - 2059)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 2696 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase, H3 lysine-36 specific |
|
NSD1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85445 | NSD1 Antibody (YA5137) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sotos Syndrome |
|
|
| Sotos Syndrome 1 |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Hypertelorism |
|
|
| Uvula, Bifid |
|
|
| Scoliosis |
|
|
| Farsightedness |
|
|
| Pectus Carinatum |
|
|
| Patent Foramen Ovale |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Cleft Palate, Isolated |
|
|
| Autism |
|
|
| Hydrops Fetalis, Nonimmune |
|
|
| Leukemia, Acute Myeloid |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Weaver Syndrome |
|
|
| 5q35 Microduplication Syndrome |
|
|
| Overgrowth Syndrome |
|
|
| Holoprosencephaly 2 |
|
|
| Deletion 5q35 |
|
|
| Myeloid Leukemia |
|
|
| Sotos Syndrome 2 |
|
|
| Pre-Eclampsia |
|
|
| Marshall-Smith Syndrome |
|
|
| Omphalocele |
|
|
| Tatton-Brown-Rahman Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Ganglioglioma |
|
|
| Alpha-Thalassemia |
|
|
| Sotos Syndrome 3 |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Laryngeal Benign Neoplasm |
|
|
| Subglottis Benign Neoplasm |
|
|
| Macroglossia |
|
|
| Cornelia De Lange Syndrome 5 |
|
|
| Childhood Leukemia |
|
|
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
|
| Kleefstra Syndrome |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
|
| Cowden Syndrome 1 |
|
|
| Kabuki Syndrome 1 |
|
|
| Myelodysplastic Syndrome |
|
|
| Cornelia De Lange Syndrome 1 |
|
|
| Heart Disease |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
| Learning Disability |
|
|
| Syndromic Intellectual Disability |
|
|
| Microcephaly |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Cornelia De Lange Syndrome |
|
|
| Atrial Heart Septal Defect |
|
|
| Williams-Beuren Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NSD1 | RGD | RGD:1307748 |
| Mus musculus | NSD1 | MGD | MGI:1276545 |
| Macaca mulatta | NSD1 | VGNC | VGNC:75401 |
| Bos taurus | NSD1 | VGNC | VGNC:55067 |
| Canis familiaris | NSD1 | VGNC | VGNC:43980 |
| Felis catus | NSD1 | VGNC | VGNC:63885 |
| Others | NSD1 | NCBI |