Gene

nsd1a

ID
ZDB-GENE-080519-3
Name
nuclear receptor binding SET domain protein 1a
Symbol
nsd1a Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to enable histone methyltransferase activity (H3-K36 specific). Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in chromosome. Predicted to be active in chromatin and nucleus. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Sun et al., 2008
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nsd1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Sotos syndrome 1 Alliance Sotos syndrome 1 117550
Associated With nsd1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019786 Zinc finger, PHD-type, conserved site
Domain IPR000313 PWWP domain
Domain IPR001214 SET domain
Domain IPR001965 Zinc finger, PHD-type
Domain IPR003616 Post-SET domain
Domain IPR006560 AWS domain
Domain IPR019787 Zinc finger, PHD-finger
Domain IPR041306 NSD, Cys-His rich domain
Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
Domain Details Per Protein
Protein Length AWS domain NSD, Cys-His rich domain Post-SET domain PWWP domain SET domain Zinc finger, FYVE/PHD-type Zinc finger, PHD-finger Zinc finger, PHD-type Zinc finger, PHD-type, conserved site Zinc finger, RING/FYVE/PHD-type
UniProtKB:A0A2R8PZ53 1995
UniProtKB:A0A2R8QTI0 2071
UniProtKB:A5XBQ0 138
UniProtKB:F1QA79 2055
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations