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GSDMD gasdermin D [ Homo sapiens (human) ]

Gene ID: 79792, updated on 12-Sep-2021

Summary

Official Symbol
GSDMDprovided by HGNC
Official Full Name
gasdermin Dprovided by HGNC
Primary source
HGNC:HGNC:25697
See related
Ensembl:ENSG00000104518 MIM:617042
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DF5L; DFNA5L; FKSG10; GSDMDC1
Summary
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 described. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in spleen (RPKM 35.6), duodenum (RPKM 18.8) and 24 other tissues See more
Orthologs
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Genomic context

See GSDMD in Genome Data Viewer
Location:
8q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143553387..143563062)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144635557..144645232)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 3 Neighboring gene small nucleolar RNA, C/D box 149 Neighboring gene RN7SK pseudogene 175 Neighboring gene uncharacterized LOC100310756 Neighboring gene maestro heat like repeat family member 6 Neighboring gene nicotinate phosphoribosyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12150

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cardiolipin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-4-phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to extracellular stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to Gram-negative bacterium ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in defense response to Gram-positive bacterium ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in pore complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pore formation in membrane of other organism ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of interleukin-1 beta production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pyroptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pyroptosis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of NLRP3 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of NLRP3 inflammasome complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in specific granule lumen TAS
Traceable Author Statement
more info
 
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gasdermin-D
Names
gasdermin domain containing 1
gasdermin domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001166237.1NP_001159709.1  gasdermin-D

    See identical proteins and their annotated locations for NP_001159709.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK291817, BC008904, BC069000
    Consensus CDS
    CCDS34956.1
    UniProtKB/Swiss-Prot
    P57764
    Related
    ENSP00000433209.1, ENST00000526406.5
    Conserved Domains (1) summary
    pfam04598
    Location:4456
    Gasdermin; Gasdermin family
  2. NM_024736.7NP_079012.3  gasdermin-D

    See identical proteins and their annotated locations for NP_079012.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC008904, BC069000
    Consensus CDS
    CCDS34956.1
    UniProtKB/Swiss-Prot
    P57764
    Related
    ENSP00000262580.4, ENST00000262580.9
    Conserved Domains (1) summary
    pfam04598
    Location:4456
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    143553387..143563062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517301.2XP_011515603.1  gasdermin-D isoform X1

    See identical proteins and their annotated locations for XP_011515603.1

    Conserved Domains (1) summary
    pfam04598
    Location:352667
    Gasdermin; Gasdermin family

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    43427..53102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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