• Gene id: 79792

Gene Summary

• Gene Symbol: GSDMD   Gene   UCSC   Ensembl
• Aliases: DF5L, DFNA5L, FKSG10, GSDMDC1
• Gene name: gasdermin D
• Alternate names: gasdermin-D, gasdermin domain containing 1, gasdermin domain-containing protein 1,
• Gene location: 8q24.3 (143553386: 143563061)     Exons: 13     NC_000008.11
• Gene summary(Entrez): Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been descr

Protein Summary

• Protein general information: P57764  
  • Name: Gasdermin D (Gasdermin domain containing protein 1) [Cleaved into: Gasdermin D, N terminal (GSDMD NT); Gasdermin D, C terminal (GSDMD CT)]
  • Length: 484  
  • Mass: 52801
  • Tissue specificity: Expressed in the suprabasal cells of esophagus, as well as in the isthmus/neck, pit, and gland of the stomach, suggesting preferential expression in differentiating cells. {ECO
• Sequence:

  MGSAFERVVRRVVQELDHGGEFIPVTSLQSSTGFQPYCLVVRKPSSSWFWKPRYKCVNLSIKDILEPDAAEPDVQ
  RGRSFHFYDAMDGQIQGSVELAAPGQAKIAGGAAVSDSSSTSMNVYSLSVDPNTWQTLLHERHLRQPEHKVLQQL
  RSRGDNVYVVTEVLQTQKEVEVTRTHKREGSGRFSLPGATCLQGEGQGHLSQKKTVTIPSGSTLAFRVAQLVIDS
  DLDVLLFPDKKQRTFQPPATGHKRSTSEGAWPQLPSGLSMMRCLHNFLTDGVPAEGAFTEDFQGLRAEVETISKE
  LELLDRELCQLLLEGLEGVLRDQLALRALEEALEQGQSLGPVEPLDGPAGAVLECLVLSSGMLVPELAIPVVYLL
  GALTMLSETQHKLLAEALESQTLLGPLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVLLDECGLELG
  EDTPHVCWEPQAQGRMCALYASLALLSGLSQEPH

• Structural information:
  • Interpro: IPR007677  IPR040460  IPR041263  
  • PDB: 5NH1 5WQT 6AO4 6N9O
  • PDBsum: 5NH1 5WQT 6AO4 6N9O
  • DIP: 61775
  • STRING: ENSP00000433209
• Other Databases: GeneCards:  GSDMD  Malacards:  GSDMD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0072559	NLRP3 inflammasome complex	IBA	cellular component
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:0072559	NLRP3 inflammasome complex	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:1901612	cardiolipin binding	ISS	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	ISS	molecular function
GO:0001786	phosphatidylserine binding	ISS	molecular function
GO:0050830	defense response to Gram-positive bacterium	ISS	biological process
GO:0046931	pore complex assembly	ISS	biological process
GO:0070269	pyroptosis	ISS	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0070300	phosphatidic acid binding	ISS	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0051260	protein homooligomerization	ISS	biological process
GO:0050829	defense response to Gram-negative bacterium	ISS	biological process
GO:0035915	pore formation in membrane of other organism	ISS	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0012501	programmed cell death	IEA	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901612	cardiolipin binding	IEA	molecular function
GO:0072559	NLRP3 inflammasome complex	IEA	cellular component
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA	molecular function
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0046931	pore complex assembly	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0070300	phosphatidic acid binding	IEA	molecular function
GO:0070269	pyroptosis	IEA	biological process
GO:0051260	protein homooligomerization	IEA	biological process
GO:0050829	defense response to Gram-negative bacterium	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0035915	pore formation in membrane of other organism	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray