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Gsdma3 gasdermin A3 [ Mus musculus (house mouse) ]

Gene ID: 450219, updated on 20-Feb-2024

Summary

Official Symbol
Gsdma3provided by MGI
Official Full Name
gasdermin A3provided by MGI
Primary source
MGI:MGI:3044668
See related
Ensembl:ENSMUSG00000064224 AllianceGenome:MGI:3044668
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Bsk; Dfl; Fgn; Rco2; Rim3; Gsdm3; Gsdm1l; GsdmA-3
Summary
Enables cardiolipin binding activity and wide pore channel activity. Involved in mammary gland development; protein complex oligomerization; and pyroptosis. Acts upstream of or within several processes, including negative regulation of timing of anagen; regulation of signal transduction; and skin development. Located in several cellular components, including cytosol; mitochondrion; and nucleus. Is integral component of membrane. Is expressed in foregut; hair root sheath; and hair shaft. Orthologous to human GSDMA (gasdermin A). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
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Genomic context

See Gsdma3 in Genome Data Viewer
Location:
11 D; 11 62.21 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (98517175..98529627)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (98626349..98638801)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 3C Neighboring gene STARR-seq mESC enhancer starr_30672 Neighboring gene serine and arginine rich splicing factor 3, pseudogene Neighboring gene gasdermin A2 Neighboring gene STARR-positive B cell enhancer ABC_E7059 Neighboring gene gasdermin A

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cardiolipin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables wide pore channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables wide pore channel activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within anagen IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within avascular cornea development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within catagen IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in defense response to bacterium ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within hair cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hair follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hair follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hair follicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mammary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of timing of anagen IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in programmed cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pyroptosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptosis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within sebaceous gland cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skin development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic stem cell population maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gasdermin-A3
Names
bare skin
defolliculated
gasdermin 3
gasderminA-3
recombination induced mutation 3

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_001007461.2NP_001007462.1  gasdermin-A3

    See identical proteins and their annotated locations for NP_001007462.1

    Status: VALIDATED

    Source sequence(s)
    AL591125, AY679090
    Consensus CDS
    CCDS25356.1
    UniProtKB/Swiss-Prot
    A2A4X5, Q5Y4Y6
    UniProtKB/TrEMBL
    A0A679AUV5, Z4YKL5
    Related
    ENSMUSP00000073022.3, ENSMUST00000073295.3
    Conserved Domains (2) summary
    pfam04598
    Location:4233
    Gasdermin; Gasdermin family
    pfam17708
    Location:265428
    Gasdermin_C; Gasdermin PUB domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    98517175..98529627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)