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Protein

Gasdermin-A

Gene

GSDMA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

  • apoptotic process Source: UniProtKB
  • pyroptosis Source: GO_Central

Keywordsi

Biological processNecrosis

Protein family/group databases

TCDBi1.C.123.1.2 the pore-forming gasdermin (gasdermin) family

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

EuPathDBiHostDB:ENSG00000167914.10
HGNCiHGNC:13311 GSDMA
MIMi611218 gene
neXtProtiNX_Q96QA5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi260L → D: Spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi334Y → D: Spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi338A → D: Spontaneous pyroptosis-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
ProteomicsDBi77846

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 Expressed in 65 organ(s), highest expression level in skin of leg
CleanExiHS_GSDMA
ExpressionAtlasiQ96QA5 baseline and differential

Organism-specific databases

HPAiHPA023313
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, 23 interactors
IntActiQ96QA5, 1 interactor
MINTiQ96QA5
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
KOiK22141
OMAiRQLMVNG
OrthoDBiEOG091G09ST
PhylomeDBiQ96QA5
TreeFamiTF331886

Family and domain databases

InterProiView protein in InterPro
IPR007677 Gasdermin
PANTHERiPTHR16399 PTHR16399, 1 hit
PfamiView protein in Pfam
PF04598 Gasdermin, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRG2J3KRG2_HUMAN
Gasdermin-A
GSDMA
158Annotation score:

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 dbSNP:rs3894194Ensembl.1
Natural variantiVAR_035011128V → L3 PublicationsCorresponds to variant dbSNP:rs7212938Ensembl.1
Natural variantiVAR_035012130E → K1 PublicationCorresponds to variant dbSNP:rs7212944Ensembl.1
Natural variantiVAR_062005314T → N1 PublicationCorresponds to variant dbSNP:rs56030650Ensembl.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

Similar proteinsi

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, 23 interactors
IntActiQ96QA5, 1 interactor
MINTiQ96QA5
STRINGi9606.ENSP00000301659

Protein family/group databases

TCDBi1.C.123.1.2 the pore-forming gasdermin (gasdermin) family

PTM databases

iPTMnetiQ96QA5
PhosphoSitePlusiQ96QA5

Polymorphism and mutation databases

BioMutaiGSDMA
DMDMi296439478

Proteomic databases

EPDiQ96QA5
PaxDbiQ96QA5
PeptideAtlasiQ96QA5
PRIDEiQ96QA5
ProteomicsDBi77846

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
EuPathDBiHostDB:ENSG00000167914.10
GeneCardsiGSDMA
H-InvDBiHIX0202459
HGNCiHGNC:13311 GSDMA
HPAiHPA023313
HPA064826
MIMi611218 gene
neXtProtiNX_Q96QA5
OpenTargetsiENSG00000167914
PharmGKBiPA162390274
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH8H Eukaryota
ENOG41116WI LUCA
GeneTreeiENSGT00530000063218
HOGENOMiHOG000082450
HOVERGENiHBG107968
InParanoidiQ96QA5
KOiK22141
OMAiRQLMVNG
OrthoDBiEOG091G09ST
PhylomeDBiQ96QA5
TreeFamiTF331886

Miscellaneous databases

GenomeRNAii284110
PROiPR:Q96QA5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167914 Expressed in 65 organ(s), highest expression level in skin of leg
CleanExiHS_GSDMA
ExpressionAtlasiQ96QA5 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR007677 Gasdermin
PANTHERiPTHR16399 PTHR16399, 1 hit
PfamiView protein in Pfam
PF04598 Gasdermin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGSDMA_HUMAN
AccessioniPrimary (citable) accession number: Q96QA5
Secondary accession number(s): Q32MC5, Q86VE7, Q8N1M6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 106 of the entry and version 4 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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