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Protein Coding Gene : Nsd1 nuclear receptor-binding SET-domain protein 1

Primary Identifier  MGI:1276545 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  18193
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables several functions, including nuclear receptor binding activity; protein-lysine N-methyltransferase activity; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within gastrulation with mouth forming second. Located in nucleus. Is expressed in several structures, including central nervous system; dorsal root ganglion; genitourinary system; long bone epiphysis; and retina. Human ortholog(s) of this gene implicated in Sotos syndrome; Sotos syndrome 1; acute myeloid leukemia; microcephaly; and neuroblastoma. Orthologous to human NSD1 (nuclear receptor binding SET domain protein 1).
PHENOTYPE: Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10. [provided by MGI curators]
  • synonyms:
  • Nsd1,
  • nuclear receptor-binding SET-domain protein 1,
  • expressed sequence AI528500,
  • AI528500,
  • KMT3B,
  • MGI:2145265

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For