SET binding protein 1

Summary
Gene Symbol
  • SETBP1
Organism
Homo sapiens (human)
NCBI Gene
26040
PubChem
26040
Alliance of Genome Resources
JoGo
SETBP1
TogoVar
SETBP1
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • DNA-binding
  • Disease variant
  • Intellectual disability
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Repeat
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9Y6X0
A0A7I2V4X1
Gene Ontology (GO)
GO Hierarchy
Displaying all 3 entries
GO Term Evidence Code PMID
DNA binding
protein binding
histone H3K4 methyltransferase activity
GO Hierarchy
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0070059 autosomal dominant intellectual developmental disorder 29
DOID:0070509 Schinzel Giedion syndrome

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026