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Protein

Gasdermin-A

Gene

GSDMA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).Curated1 Publication

GO - Biological processi

  • apoptotic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Necrosis

Names & Taxonomyi

Protein namesi
Recommended name:
Gasdermin-A
Alternative name(s):
Gasdermin-1
Gene namesi
Name:GSDMA
Synonyms:GSDM, GSDM1
ORF Names:FKSG9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:13311. GSDMA.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB-SubCell
  • perinuclear region of cytoplasm Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi260L → D: Spontaneous pyropoptis-inducing activity. 1 Publication1
Mutagenesisi334Y → D: Spontaneous pyropoptis-inducing activity. 1 Publication1
Mutagenesisi338A → D: Spontaneous pyropoptis-inducing activity. 1 Publication1

Organism-specific databases

DisGeNETi284110.
OpenTargetsiENSG00000167914.
PharmGKBiPA162390274.

Polymorphism and mutation databases

BioMutaiGSDMA.
DMDMi296439478.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001481731 – 445Gasdermin-AAdd BLAST445

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ96QA5.
PaxDbiQ96QA5.
PeptideAtlasiQ96QA5.
PRIDEiQ96QA5.

PTM databases

iPTMnetiQ96QA5.
PhosphoSitePlusiQ96QA5.

Expressioni

Tissue specificityi

Expressed predominantly in the gastrointestinal tract and, at a lower level, in the skin. Also detected in mammary gland. In the gastrointestinal tract, mainly expressed in differentiated cells, including the differentiated cell layer of esophagus and mucus-secreting pit cells of the gastric epithelium. Down-regulateded in gastric cancer cells.3 Publications

Gene expression databases

BgeeiENSG00000167914.
CleanExiHS_GSDMA.
ExpressionAtlasiQ96QA5. baseline and differential.

Organism-specific databases

HPAiHPA023313.
HPA024207.
HPA064826.

Interactioni

Subunit structurei

The N-terminal moiety forms homooligomer; disulfide-linked. May form an 16-mer complex. Oligomerization occurs in the presence of membranes.By similarity

Protein-protein interaction databases

BioGridi129762. 10 interactors.
IntActiQ96QA5. 1 interactor.
STRINGi9606.ENSP00000301659.

Structurei

3D structure databases

ProteinModelPortaliQ96QA5.
SMRiQ96QA5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 251Triggers pyroptosis1 PublicationAdd BLAST251

Domaini

Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.By similarity

Sequence similaritiesi

Belongs to the gasdermin family.Curated

Phylogenomic databases

eggNOGiENOG410IH8H. Eukaryota.
ENOG41116WI. LUCA.
GeneTreeiENSGT00530000063218.
HOGENOMiHOG000082450.
HOVERGENiHBG107968.
InParanoidiQ96QA5.
OMAiFRVRQLM.
OrthoDBiEOG091G09ST.
PhylomeDBiQ96QA5.
TreeFamiTF331886.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PANTHERiPTHR16399. PTHR16399. 1 hit.
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96QA5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTMFENVTRA LARQLNPRGD LTPLDSLIDF KRFHPFCLVL RKRKSTLFWG
60 70 80 90 100
ARYVRTDYTL LDVLEPGSSP SDPTDTGNFG FKNMLDTRVE GDVDVPKTVK
110 120 130 140 150
VKGTAGLSQN STLEVQTLSV APKALETVQE RKLAADHPFL KEMQDQGENL
160 170 180 190 200
YVVMEVVETV QEVTLERAGK AEACFSLPFF APLGLQGSIN HKEAVTIPKG
210 220 230 240 250
CVLAFRVRQL MVKGKDEWDI PHICNDNMQT FPPGEKSGEE KVILIQASDV
260 270 280 290 300
GDVHEGFRTL KEEVQRETQQ VEKLSRVGQS SLLSSLSKLL GKKKELQDLE
310 320 330 340 350
LALEGALDKG HEVTLEALPK DVLLSKEAVG AILYFVGALT ELSEAQQKLL
360 370 380 390 400
VKSMEKKILP VQLKLVESTM EQNFLLDKEG VFPLQPELLS SLGDEELTLT
410 420 430 440
EALVGLSGLE VQRSGPQYMW DPDTLPRLCA LYAGLSLLQQ LTKAS
Length:445
Mass (Da):49,365
Last modified:May 18, 2010 - v4
Checksum:iFC745B63B9C40BCF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti131R → RR in AAL14426 (Ref. 2) Curated1
Sequence conflicti181 – 186APLGLQ → LPIGAT in AAL14426 (Ref. 2) Curated6
Sequence conflicti235 – 242EKSGEEKV → GKPGEGKF in AAL14426 (Ref. 2) Curated8
Sequence conflicti252 – 253DV → EM in AAL14426 (Ref. 2) Curated2
Sequence conflicti367 – 368ES → RG in AAL14426 (Ref. 2) Curated2
Sequence conflicti437L → H in BAC04790 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03501018R → Q.Corresponds to variant rs3894194dbSNPEnsembl.1
Natural variantiVAR_035011128V → L.3 PublicationsCorresponds to variant rs7212938dbSNPEnsembl.1
Natural variantiVAR_035012130E → K.1 PublicationCorresponds to variant rs7212944dbSNPEnsembl.1
Natural variantiVAR_062005314T → N.1 PublicationCorresponds to variant rs56030650dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB093591 mRNA. Translation: BAC75636.1.
AF307953 mRNA. Translation: AAL14426.1.
AK096439 mRNA. Translation: BAC04790.1.
AC090844 Genomic DNA. No translation available.
BC109197 mRNA. Translation: AAI09198.1.
CCDSiCCDS45669.1.
RefSeqiNP_835465.2. NM_178171.4.
XP_006721895.1. XM_006721832.2.
UniGeneiHs.448873.

Genome annotation databases

EnsembliENST00000301659; ENSP00000301659; ENSG00000167914.
ENST00000635792; ENSP00000490739; ENSG00000167914.
GeneIDi284110.
KEGGihsa:284110.
UCSCiuc002htl.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB093591 mRNA. Translation: BAC75636.1.
AF307953 mRNA. Translation: AAL14426.1.
AK096439 mRNA. Translation: BAC04790.1.
AC090844 Genomic DNA. No translation available.
BC109197 mRNA. Translation: AAI09198.1.
CCDSiCCDS45669.1.
RefSeqiNP_835465.2. NM_178171.4.
XP_006721895.1. XM_006721832.2.
UniGeneiHs.448873.

3D structure databases

ProteinModelPortaliQ96QA5.
SMRiQ96QA5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129762. 10 interactors.
IntActiQ96QA5. 1 interactor.
STRINGi9606.ENSP00000301659.

PTM databases

iPTMnetiQ96QA5.
PhosphoSitePlusiQ96QA5.

Polymorphism and mutation databases

BioMutaiGSDMA.
DMDMi296439478.

Proteomic databases

EPDiQ96QA5.
PaxDbiQ96QA5.
PeptideAtlasiQ96QA5.
PRIDEiQ96QA5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301659; ENSP00000301659; ENSG00000167914.
ENST00000635792; ENSP00000490739; ENSG00000167914.
GeneIDi284110.
KEGGihsa:284110.
UCSCiuc002htl.1. human.

Organism-specific databases

CTDi284110.
DisGeNETi284110.
GeneCardsiGSDMA.
H-InvDBHIX0202459.
HGNCiHGNC:13311. GSDMA.
HPAiHPA023313.
HPA024207.
HPA064826.
MIMi611218. gene.
neXtProtiNX_Q96QA5.
OpenTargetsiENSG00000167914.
PharmGKBiPA162390274.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH8H. Eukaryota.
ENOG41116WI. LUCA.
GeneTreeiENSGT00530000063218.
HOGENOMiHOG000082450.
HOVERGENiHBG107968.
InParanoidiQ96QA5.
OMAiFRVRQLM.
OrthoDBiEOG091G09ST.
PhylomeDBiQ96QA5.
TreeFamiTF331886.

Miscellaneous databases

GenomeRNAii284110.
PROiQ96QA5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167914.
CleanExiHS_GSDMA.
ExpressionAtlasiQ96QA5. baseline and differential.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PANTHERiPTHR16399. PTHR16399. 1 hit.
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGSDMA_HUMAN
AccessioniPrimary (citable) accession number: Q96QA5
Secondary accession number(s): Q32MC5, Q86VE7, Q8N1M6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 96 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.