Medical Knowledge Cockpit mental retardation, autosomal dominant

SMARCB1

Somatic tumors

malignant rhabdoid

Tumor types germline

malignant rhabdoid

Cancer Syndrom

rhabdoid predisposition syndrome

Translocation partner

Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Chromosome banding

22q11

Cancer molecular gen.

Rec

Mutation type

D, N, F, S

Other syndrome disease

EPB41L1

• Association of the type 1 inositol (1,4,5)-trisphosphate receptor with 4.1N protein in neurons.
• Chromosome 13q12 encoded Rho GTPase activating protein suppresses growth of breast carcinoma cells, and yeast two-hybrid screen shows its interaction with several proteins.

CACNG2

• Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain
• Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location

ARID1B

• Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein

DYNC1H1

• Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

ARID1A

• Purification and biochemical heterogeneity of the mammalian SWI-SNF complex

SMARCB1

• SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones
• A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis
• [[HIV integration]]. Ini1 for integration?
• [[HIV-1 integration]]: an interplay between HIV-1 integrase, cellular and viral proteins

SMARCA4

• Purification and biochemical heterogeneity of the mammalian SWI-SNF complex
• Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling
• Chromatin-remodelling factor BRG1 selectively activates a subset of interferon-alpha-inducible genes
• LKB1 associates with Brg1 and is necessary for Brg1-induced growth arrest
• Involvement of the chromatin-remodeling factor BRG1/SMARCA4 in human cancer

PACS1

• PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization
• Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain

GATAD2B

• Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain

CTNNB1

• Association of the APC tumor suppressor protein with catenins
• Differences between the interaction of beta-catenin with non-phosphorylated and single-mimicked phosphorylated 20-amino acid residue repeats of the APC protein
• Pin1 regulates turnover and subcellular localization of beta-catenin by inhibiting its interaction with APC
• Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein
• DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95

• Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complex
• Axin, an inhibitor of the Wnt signalling pathway, interacts with beta-catenin, GSK-3beta and APC and reduces the beta-catenin level
• Regulation of the Wnt signaling pathway by disabled-2 (Dab2)
• Linking beta-catenin to androgen-signaling pathway
• Recruitment of beta-catenin by wild-type or mutant androgen receptors correlates with ligand-stimulated growth of prostate cancer cells
• Antiandrogen effects of mifepristone on coactivator and corepressor interactions with the androgen receptor
• A direct beta-catenin-independent interaction between androgen receptor and T cell factor 4
• Functional localization and competition between the androgen receptor and T-cell factor for nuclear beta-catenin: a means for inhibition of the Tcf signaling axis

DOCK8

• Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology

CTCF

• Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
• CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease
• The many roles of the transcriptional regulator CTCF

CDH15

• Molecular cloning and characterization of a novel human classic cadherin homologous with mouse muscle cadherin.

KIRREL3

• Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis

SYNGAP1

• A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II
• The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity
• SynGAP regulates spine formation

GRIN2B

• The NR2B subtype of NMDA receptor: a potential target for the treatment of alcohol dependence
• HIV tat and neurotoxicity
• Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95
• Human immunodeficiency virus type 1 tat activates non-N-methyl-D-aspartate excitatory amino acid receptors and causes neurotoxicity

DYRK1A

• Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2

GRIN1

• Heteromeric NMDA receptors: molecular and functional distinction of subtypes

KIF1A

• Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

• MAPK signaling pathway
  Homo sapiens (human) one gene

  ---

• Huntington''s disease
  Homo sapiens (human) {:one=>"one gene", :other=>"%{count} genes"}

  ---

• Trafficking of AMPA receptors
  species not specified 2 genes

  ---

• Tight junction
  Homo sapiens (human) 2 genes

  ---