• Gene id: 284110

Gene Summary

• Gene Symbol: GSDMA   Gene   UCSC   Ensembl
• Aliases: FKSG9, GSDM, GSDM1
• Gene name: gasdermin A
• Alternate names: gasdermin-A, gasdermin-1,
• Gene location: 17q21.1 (39962972: 39977767)     Exons: 14     NC_000017.11

Protein Summary

• Protein general information: Q96QA5  
  • Name: Gasdermin A (Gasdermin 1)
  • Length: 445  
  • Mass: 49365
  • Tissue specificity: Expressed predominantly in the gastrointestinal tract and, at a lower level, in the skin. Also detected in mammary gland. In the gastrointestinal tract, mainly expressed in differentiated cells, including the differentiated cell layer
• Sequence:

  MTMFENVTRALARQLNPRGDLTPLDSLIDFKRFHPFCLVLRKRKSTLFWGARYVRTDYTLLDVLEPGSSPSDPTD
  TGNFGFKNMLDTRVEGDVDVPKTVKVKGTAGLSQNSTLEVQTLSVAPKALETVQERKLAADHPFLKEMQDQGENL
  YVVMEVVETVQEVTLERAGKAEACFSLPFFAPLGLQGSINHKEAVTIPKGCVLAFRVRQLMVKGKDEWDIPHICN
  DNMQTFPPGEKSGEEKVILIQASDVGDVHEGFRTLKEEVQRETQQVEKLSRVGQSSLLSSLSKLLGKKKELQDLE
  LALEGALDKGHEVTLEALPKDVLLSKEAVGAILYFVGALTELSEAQQKLLVKSMEKKILPVQLKLVESTMEQNFL
  LDKEGVFPLQPELLSSLGDEELTLTEALVGLSGLEVQRSGPQYMWDPDTLPRLCALYAGLSLLQQLTKAS

• Structural information:
  • Interpro: IPR007677  IPR040460  IPR041263  
  • STRING: ENSP00000301659
• Other Databases: GeneCards:  GSDMA  Malacards:  GSDMA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0042742	defense response to bacterium	IBA	biological process
GO:0070269	pyroptosis	IBA	biological process
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0012501	programmed cell death	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq