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GSDMA (gasdermin A)

Written2010-11Norihisa Saeki, Hiroki Sasaki
Genetics Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan

(Note : for Links provided by Atlas : click)

Identity

Other aliasFLJ39120
GSDM
GSDM1
MGC129596
LocusID (NCBI) 284110
Atlas_Id 45650
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at and ends at bp from pter
Local_order Telomeric to ORMDL3 and GSDMB genes; centromeric to PSMD3 gene.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
THRA (17q21.1) / GSDMA (17q21.1)
Note GSDMA is the first member of Gasdermin family genes which, with Gadermin-related genes, DFNA5 and DFNB59, form Gasdermin superfamily.

DNA/RNA

 
  Genomic organization of the GSDMA gene.
Description 12 exons, spans approximately 13 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon is located to exon 2, and the stop codon to exon 12.
Transcription mRNA of approximately 1.5 kb.
Pseudogene Not reported.

Protein

 
  GSDMA is involved in TGF-beta signaling which regulates apoptosis induction in pit cells of the gastric epithelium. Signaling from TGF-beta receptor up-regulates LMO1, a transcription factor. LMO1 binds to the promoter of GSDMA gene and enhances its expression, that results in the apoptosis induction in the pit cells.
Description The GSDMA gene encodes a 445 amino acid protein with estimated molecular weight of 49377.95 Da. The Gasdermin family proteins have 9 conserved motifs but no known functional motif.
Expression GSDMA protein is expressed in pit cells of the gastric epithelium, where it is involved in maintenance of homeostasis by its apoptosis induction ability under TGF-beta signaling. Its expression was also observed in epithelial cells of the esophagus, skin and mammary gland.
Localisation Cytoplasm.
Function Apoptosis induction, but detail is unknown.
Homology Human genome possesses its three paralogues, GSDMB, GSDMC and GSDMD. Both N- and C-terminal amino acids are conserved among them.

Mutations

Germinal Not reported.
Somatic Not reported.

Implicated in

Note
  
Entity Gastric cancer
Note GSDMA gene is frequently silenced in gastric adenocarcinoma (16 in 18 cases examined including both diffuse and intestinal types), whose relation to prognosis is unknown.
  
  
Entity Esophageal cancer
Note GSDMA gene is frequently silenced in esophageal squamous cell carcinoma (41 in 42 cases examined).
  

Bibliography

Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland.
Lunny DP, Weed E, Nolan PM, Marquardt A, Augustin M, Porter RM.
J Invest Dermatol. 2005 Mar;124(3):615-21.
PMID 15737203
 
GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling.
Saeki N, Kim DH, Usui T, Aoyagi K, Tatsuta T, Aoki K, Yanagihara K, Tamura M, Mizushima H, Sakamoto H, Ogawa K, Ohki M, Shiroishi T, Yoshida T, Sasaki H.
Oncogene. 2007 Oct 4;26(45):6488-98. Epub 2007 Apr 30.
PMID 17471240
 
Gasdermin (Gsdm) localizing to mouse Chromosome 11 is predominantly expressed in upper gastrointestinal tract but significantly suppressed in human gastric cancer cells.
Saeki N, Kuwahara Y, Sasaki H, Satoh H, Shiroishi T.
Mamm Genome. 2000 Sep;11(9):718-24.
PMID 10967128
 
Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium.
Saeki N, Usui T, Aoyagi K, Kim DH, Sato M, Mabuchi T, Yanagihara K, Ogawa K, Sakamoto H, Yoshida T, Sasaki H.
Genes Chromosomes Cancer. 2009 Mar;48(3):261-71.
PMID 19051310
 
Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner.
Tamura M, Tanaka S, Fujii T, Aoki A, Komiyama H, Ezawa K, Sumiyama K, Sagai T, Shiroishi T.
Genomics. 2007 May;89(5):618-29. Epub 2007 Mar 12.
PMID 17350798
 

Citation

This paper should be referenced as such :
Saeki, N ; Sasaki, H
GSDMA (gasdermin A)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(7):560-561.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GSDMAID45650ch17q21.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  THRA/GSDMA (17q21)


External links

Nomenclature
Cards
AtlasGSDMAID45650ch17q21.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)284110
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:38:14 CEST 2018

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