Gsdma3 gasdermin A3 [Mus musculus (house mouse)] - Gene

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gasdermin-A3 pore formation propagates along variable pathways.
Title: Gasdermin-A3 pore formation propagates along variable pathways.
Gasdermin A3-Mediated Cell Death Causes Niche Collapse and Precocious Activation of Hair Follicle Stem Cells.
Title: Gasdermin A3-Mediated Cell Death Causes Niche Collapse and Precocious Activation of Hair Follicle Stem Cells.
cryo-electron microscopy structures of the 27-fold and 28-fold single-ring pores formed by the N-terminal fragment of mouse GSDMA3 (GSDMA3-NT) at 3.8 and 4.2 A resolutions, and of a double-ring pore at 4.6 A resolution
Title: Cryo-EM structure of the gasdermin A3 membrane pore.
In this study, we describe a novel mutation (C+/H-: cornea plus, hair minus) in the far C-terminal region of Gasdermin A3 that causes both skin and corneal phenotypes.
Title: A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.
The function of Gsdma3 in regulating the development of mammary glands, and it demonstratse that the Gsdma3 gene may act as a suppressor of the immune reaction.
Title: Gsdma3 is required for mammary gland development in mice.
induced expression caused epidermal hyperplasia, skin inflammation and hair cycle defect, suggesting gain-of-function mutations
Title: Inducible expression of gasdermin A3 in the epidermis causes epidermal hyperplasia and skin inflammation.
crystal structure of GSDMA3 showed an autoinhibited two-domain architecture that is conserved in the gasdermin family; the gasdermin-N domain is required for pyroptosis
Title: Pore-forming activity and structural autoinhibition of the gasdermin family.
Our results indicate that the genetic mutations in the C-terminal domain of Gsdma3 are gain-of-function mutations which unmask the N-terminal functional domain of Gsdma3
Title: N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting.
GSDMA3 mutation play a specific role in hair growth in alopecia.
Title: Roles of GasderminA3 in Catagen-Telogen Transition During Hair Cycling.
Loss of conserved Gsdma3 self-regulation causes autophagy and cell death.
Title: Loss of conserved Gsdma3 self-regulation causes autophagy and cell death.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (1)
Chemically induced (ENU) (8) 1 citation
Spontaneous (3) 1 citation

General gene information

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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

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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.