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GSDMA gasdermin A [ Homo sapiens (human) ]

Gene ID: 284110, updated on 23-Sep-2022

Summary

Official Symbol
GSDMAprovided by HGNC
Official Full Name
gasdermin Aprovided by HGNC
Primary source
HGNC:HGNC:13311
See related
Ensembl:ENSG00000167914 MIM:611218; AllianceGenome:HGNC:13311
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSDM; FKSG9; GSDM1
Summary
Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Involved in apoptotic process. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 16.4) and esophagus (RPKM 1.0) See more
Orthologs
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Genomic context

See GSDMA in Genome Data Viewer
Location:
17q21.1
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39963004..39977768)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40826865..40841632)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38119257..38134021)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903999 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3 Neighboring gene leucine rich repeat containing 3C Neighboring gene uncharacterized LOC124904000 Neighboring gene proteasome 26S subunit, non-ATPase 3 Neighboring gene colony stimulating factor 3

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?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
EBI GWAS Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
EBI GWAS Catalog
A large-scale, consortium-based genomewide association study of asthma.
EBI GWAS Catalog
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
EBI GWAS Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Multiple loci are associated with white blood cell phenotypes.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39120, MGC129596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gasdermin-A
Names
gasdermin-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_178171.5NP_835465.2  gasdermin-A

    See identical proteins and their annotated locations for NP_835465.2

    Status: VALIDATED

    Source sequence(s)
    AA826386, AC090844, AF307953, AK096439
    Consensus CDS
    CCDS45669.1
    UniProtKB/Swiss-Prot
    Q8N1M6, Q96QA5
    Related
    ENSP00000301659.4, ENST00000301659.9
    Conserved Domains (1) summary
    pfam04598
    Location:3418
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39963004..39977768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024502.3XP_016879991.1  gasdermin-A isoform X2

  2. XM_006721832.4XP_006721895.1  gasdermin-A isoform X1

    See identical proteins and their annotated locations for XP_006721895.1

    UniProtKB/Swiss-Prot
    Q8N1M6, Q96QA5
    Related
    ENSP00000490739.1, ENST00000635792.1
    Conserved Domains (1) summary
    pfam04598
    Location:3418
    Gasdermin; Gasdermin family
  3. XM_011524651.4XP_011522953.1  gasdermin-A isoform X3

    Conserved Domains (1) summary
    pfam04598
    Location:1276
    Gasdermin; Gasdermin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40826865..40841632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)