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GSDMA gasdermin A [ Homo sapiens (human) ]

Gene ID: 284110, updated on 9-Feb-2020

Summary

Official Symbol
GSDMAprovided by HGNC
Official Full Name
gasdermin Aprovided by HGNC
Primary source
HGNC:HGNC:13311
See related
Ensembl:ENSG00000167914 MIM:611218
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
Expression
Biased expression in skin (RPKM 16.4) and esophagus (RPKM 1.0) See more
Orthologs

Genomic context

See GSDMA in Genome Data Viewer
Location:
17q21.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39962973..39977768)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38119226..38134019)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268187 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3 Neighboring gene leucine rich repeat containing 3C 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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
A large-scale, consortium-based genomewide association study of asthma.
NHGRI GWA Catalog
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA 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
phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
pyroptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gasdermin-A
Names
gasdermin-1

NCBI Reference Sequences (RefSeq)

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
    Q96QA5
    Related
    ENSP00000301659.4, ENST00000301659.9
    Conserved Domains (1) summary
    pfam04598
    Location:3418
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    39962973..39977768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024502.2XP_016879991.1  gasdermin-A isoform X2

  2. XM_017024503.1XP_016879992.1  gasdermin-A isoform X4

  3. XM_017024504.2XP_016879993.1  gasdermin-A isoform X5

  4. XM_006721832.3XP_006721895.1  gasdermin-A isoform X1

    See identical proteins and their annotated locations for XP_006721895.1

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

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