SWI/SNF related BAF chromatin remodeling complex subunit B1

Summary
Gene Symbol
  • SMARCB1
Organism
Homo sapiens (human)
NCBI Gene
6598
PubChem
6598
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Activator
  • Alternative splicing
  • Cell cycle
  • Chromatin regulator
  • DNA-binding
  • Disease variant
  • Host-virus interaction
  • Hypotrichosis
  • Intellectual disability
  • Isopeptide bond
  • Neurogenesis
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transcription regulation
  • Tumor suppressor
  • Ubl conjugation
Proteins
Displaying all 3 entries
UniProt Protein Name
G5E975
Q12824
  • BRG1-associated factor 47
  • Integrase interactor 1 protein
  • SNF5 homolog
Q9H836
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 13 in total
DO ID Disease Name Source
DOID:0050861 colorectal adenocarcinoma
DOID:0070045 Coffin-Siris syndrome 3
DOID:0070480 schwannomatosis 1
DOID:0080799 sinonasal undifferentiated carcinoma
DOID:0111252 vestibular schwannomatosis
DOID:2129 atypical teratoid rhabdoid tumor
DOID:3204 schwannomatosis
DOID:3565 meningioma
DOID:3672 rhabdoid cancer
DOID:4467 clear cell renal cell carcinoma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024