UniProtKB - Q9BYG8 (GSDMC_HUMAN)
Protein
Gasdermin-C
Gene
GSDMC
Organism
Homo sapiens (Human)
Status
Functioni
This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-C, N-terminal) binds to membranes and forms pores, triggering cell death.By similarity
Pore-forming protein that causes membrane permeabilization and pyroptosis (PubMed:27281216). Released upon cleavage and binds to membrane inner leaflet lipids. Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (By similarity). The functional mechanisms and physiological proteases that cleave and activate this pore-forming protein are unknown (Probable).By similarityCurated1 Publication
Activity regulationi
The full-length protein before cleavage is inactive: intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-C, N-terminal).By similarity
GO - Molecular functioni
- phosphatidylinositol-4,5-bisphosphate binding Source: GO_Central
- phosphatidylinositol-4-phosphate binding Source: GO_Central
- phosphatidylserine binding Source: GO_Central
GO - Biological processi
- defense response to bacterium Source: GO_Central
- pyroptosis Source: GO_Central
Keywordsi
Biological process | Necrosis |
Enzyme and pathway databases
PathwayCommonsi | Q9BYG8 |
Protein family/group databases
TCDBi | 1.C.123.1.4, the pore-forming gasdermin (gasdermin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Gasdermin-C1 PublicationAlternative name(s): Melanoma-derived leucine zipper-containing extranuclear factor1 Publication Cleaved into the following 2 chains: |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000147697.8 |
HGNCi | HGNC:7151, GSDMC |
MIMi | 608384, gene |
neXtProti | NX_Q9BYG8 |
Subcellular locationi
Cytosol
- cytosol 1 Publication
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Cytoskeleton
- centriolar satellite Source: HPA
Cytosol
- cytosol Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 319 | L → D: Low spontaneous pyroptosis-inducing activity. 1 Publication | 1 | |
Mutagenesisi | 398 | Y → D: Low spontaneous pyroptosis-inducing activity. 1 Publication | 1 | |
Mutagenesisi | 402 | A → D: Spontaneous pyroptosis-inducing activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 56169 |
OpenTargetsi | ENSG00000147697 |
PharmGKBi | PA162390324 |
Miscellaneous databases
Pharosi | Q9BYG8, Tdark |
Polymorphism and mutation databases
BioMutai | GSDMC |
DMDMi | 311033444 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000148180 | 1 – 508 | Gasdermin-CAdd BLAST | 508 | |
ChainiPRO_0000451674 | 1 – ? | Gasdermin-C, N-terminalCurated | ||
ChainiPRO_0000451675 | ? – 508 | Gasdermin-C, C-terminalCurated |
Post-translational modificationi
Cleavage relieves autoinhibition by releasing the N-terminal moiety (Gasdermin-C, N-terminal) that initiates pyroptosis.By similarity
Proteomic databases
EPDi | Q9BYG8 |
MassIVEi | Q9BYG8 |
PaxDbi | Q9BYG8 |
PeptideAtlasi | Q9BYG8 |
PRIDEi | Q9BYG8 |
ProteomicsDBi | 79642 |
PTM databases
iPTMneti | Q9BYG8 |
PhosphoSitePlusi | Q9BYG8 |
Expressioni
Tissue specificityi
Expressed mainly in trachea and spleen (PubMed:11223543). In the esophagus, expressed in differentiating cells and probably in differentiated cells. Also detected in gastric epithelium (PubMed:19051310).2 Publications
Gene expression databases
Bgeei | ENSG00000147697, Expressed in zone of skin and 124 other tissues |
Genevisiblei | Q9BYG8, HS |
Organism-specific databases
HPAi | ENSG00000147697, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
Interactioni
Subunit structurei
Homooligomer; homooligomeric ring-shaped pore complex containing 27-28 subunits when inserted in the membrane.
By similarityProtein-protein interaction databases
BioGRIDi | 121101, 2 interactors |
STRINGi | 9606.ENSP00000276708 |
Miscellaneous databases
RNActi | Q9BYG8, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 257 | Triggers pyroptosis1 PublicationAdd BLAST | 257 |
Domaini
Intramolecular interactions between N- and C-terminal domains are important for autoinhibition in the absence of activation signal (By similarity). The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain (By similarity).By similarity
Sequence similaritiesi
Belongs to the gasdermin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane beta strandPhylogenomic databases
eggNOGi | ENOG502S0IQ, Eukaryota |
GeneTreei | ENSGT00950000183140 |
HOGENOMi | CLU_040752_2_0_1 |
InParanoidi | Q9BYG8 |
OMAi | PWSIPFT |
OrthoDBi | 1067854at2759 |
PhylomeDBi | Q9BYG8 |
TreeFami | TF331886 |
Family and domain databases
InterProi | View protein in InterPro IPR007677, Gasdermin IPR040460, Gasdermin_pore IPR041263, Gasdermin_PUB |
PANTHERi | PTHR16399, PTHR16399, 1 hit |
Pfami | View protein in Pfam PF04598, Gasdermin, 1 hit PF17708, Gasdermin_C, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9BYG8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPSMLERISK NLVKEIGSKD LTPVKYLLSA TKLRQFVILR KKKDSRSSFW
60 70 80 90 100
EQSDYVPVEF SLNDILEPSS SVLETVVTGP FHFSDIMIQK HKADMGVNVG
110 120 130 140 150
IEVSVSGEAS VDHGCSLEFQ IVTIPSPNLE DFQKRKLLDP EPSFLKECRR
160 170 180 190 200
RGDNLYVVTE AVELINNTVL YDSSSVNILG KIALWITYGK GQGQGESLRV
210 220 230 240 250
KKKALTLQKG MVMAYKRKQL VIKEKAILIS DDDEQRTFQD EYEISEMVGY
260 270 280 290 300
CAARSEGLLP SFHTISPTLF NASSNDMKLK PELFLTQQFL SGHLPKYEQV
310 320 330 340 350
HILPVGRIEE PFWQNFKHLQ EEVFQKIKTL AQLSKDVQDV MFYSILAMLR
360 370 380 390 400
DRGALQDLMN MLELDSSGHL DGPGGAILKK LQQDSNHAWF NPKDPILYLL
410 420 430 440 450
EAIMVLSDFQ HDLLACSMEK RILLQQQELV RSILEPNFRY PWSIPFTLKP
460 470 480 490 500
ELLAPLQSEG LAITYGLLEE CGLRMELDNP RSTWDVEAKM PLSALYGTLS
LLQQLAEA
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y5J4 | A0A2R8Y5J4_HUMAN | Gasdermin-C | GSDMC | 508 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028138 | 23 | P → S1 PublicationCorresponds to variant dbSNP:rs10090835Ensembl. | 1 | |
Natural variantiVAR_028139 | 150 | R → K. Corresponds to variant dbSNP:rs16904151EnsemblClinVar. | 1 | |
Natural variantiVAR_028140 | 475 | M → T1 PublicationCorresponds to variant dbSNP:rs4144738Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB042405 mRNA Translation: BAB40331.1 AC022849 Genomic DNA No translation available. BC035321 mRNA Translation: AAH35321.1 BC063595 mRNA Translation: AAH63595.1 |
CCDSi | CCDS6360.1 |
RefSeqi | NP_113603.1, NM_031415.2 |
Genome annotation databases
Ensembli | ENST00000276708; ENSP00000276708; ENSG00000147697 ENST00000619643; ENSP00000482343; ENSG00000147697 |
GeneIDi | 56169 |
KEGGi | hsa:56169 |
UCSCi | uc003ysr.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB042405 mRNA Translation: BAB40331.1 AC022849 Genomic DNA No translation available. BC035321 mRNA Translation: AAH35321.1 BC063595 mRNA Translation: AAH63595.1 |
CCDSi | CCDS6360.1 |
RefSeqi | NP_113603.1, NM_031415.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121101, 2 interactors |
STRINGi | 9606.ENSP00000276708 |
Protein family/group databases
TCDBi | 1.C.123.1.4, the pore-forming gasdermin (gasdermin) family |
PTM databases
iPTMneti | Q9BYG8 |
PhosphoSitePlusi | Q9BYG8 |
Polymorphism and mutation databases
BioMutai | GSDMC |
DMDMi | 311033444 |
Proteomic databases
EPDi | Q9BYG8 |
MassIVEi | Q9BYG8 |
PaxDbi | Q9BYG8 |
PeptideAtlasi | Q9BYG8 |
PRIDEi | Q9BYG8 |
ProteomicsDBi | 79642 |
Protocols and materials databases
Antibodypediai | 14017, 153 antibodies |
DNASUi | 56169 |
Genome annotation databases
Ensembli | ENST00000276708; ENSP00000276708; ENSG00000147697 ENST00000619643; ENSP00000482343; ENSG00000147697 |
GeneIDi | 56169 |
KEGGi | hsa:56169 |
UCSCi | uc003ysr.3, human |
Organism-specific databases
CTDi | 56169 |
DisGeNETi | 56169 |
EuPathDBi | HostDB:ENSG00000147697.8 |
GeneCardsi | GSDMC |
HGNCi | HGNC:7151, GSDMC |
HPAi | ENSG00000147697, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
MIMi | 608384, gene |
neXtProti | NX_Q9BYG8 |
OpenTargetsi | ENSG00000147697 |
PharmGKBi | PA162390324 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S0IQ, Eukaryota |
GeneTreei | ENSGT00950000183140 |
HOGENOMi | CLU_040752_2_0_1 |
InParanoidi | Q9BYG8 |
OMAi | PWSIPFT |
OrthoDBi | 1067854at2759 |
PhylomeDBi | Q9BYG8 |
TreeFami | TF331886 |
Enzyme and pathway databases
PathwayCommonsi | Q9BYG8 |
Miscellaneous databases
BioGRID-ORCSi | 56169, 10 hits in 843 CRISPR screens |
ChiTaRSi | GSDMC, human |
GenomeRNAii | 56169 |
Pharosi | Q9BYG8, Tdark |
PROi | PR:Q9BYG8 |
RNActi | Q9BYG8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147697, Expressed in zone of skin and 124 other tissues |
Genevisiblei | Q9BYG8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007677, Gasdermin IPR040460, Gasdermin_pore IPR041263, Gasdermin_PUB |
PANTHERi | PTHR16399, PTHR16399, 1 hit |
Pfami | View protein in Pfam PF04598, Gasdermin, 1 hit PF17708, Gasdermin_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GSDMC_HUMAN | |
Accessioni | Q9BYG8Primary (citable) accession number: Q9BYG8 Secondary accession number(s): Q5XKF3, Q6P494 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | November 2, 2010 | |
Last modified: | December 2, 2020 | |
This is version 121 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations