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Protein

Gasdermin-C

Gene

GSDMC

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

Functioni

The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable).Curated1 Publication

Caution

Despite its name, it is unclear if this protein contains a functional leucine zipper.Curated

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processNecrosis

Protein family/group databases

TCDBi1.C.123.1.4 the pore-forming gasdermin (gasdermin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gasdermin-C
Alternative name(s):
Melanoma-derived leucine zipper-containing extranuclear factor
Gene namesi
Name:GSDMC
Synonyms:MLZE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147697.8
HGNCiHGNC:7151 GSDMC
MIMi608384 gene
neXtProtiNX_Q9BYG8

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
Mutagenesisi319L → D: Low spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi398Y → D: Low spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi402A → D: Spontaneous pyroptosis-inducing activity. 1 Publication1

Organism-specific databases

DisGeNETi56169
OpenTargetsiENSG00000147697
PharmGKBiPA162390324

Polymorphism and mutation databases

BioMutaiGSDMC
DMDMi311033444

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001481801 – 508Gasdermin-CAdd BLAST508

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ9BYG8
PaxDbiQ9BYG8
PeptideAtlasiQ9BYG8
PRIDEiQ9BYG8
ProteomicsDBi79642

PTM databases

iPTMnetiQ9BYG8
PhosphoSitePlusiQ9BYG8

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

BgeeiENSG00000147697 Expressed in 107 organ(s), highest expression level in esophagus mucosa
CleanExiHS_GSDMC
GenevisibleiQ9BYG8 HS

Organism-specific databases

HPAiHPA023670
HPA024767
HPA026317

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

BioGridi121101, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ9BYG8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 257Triggers pyroptosis1 PublicationAdd BLAST257

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

eggNOGiENOG410IVCF Eukaryota
ENOG4111AD5 LUCA
GeneTreeiENSGT00530000063218
HOGENOMiHOG000082450
HOVERGENiHBG107969
InParanoidiQ9BYG8
KOiK22143
OMAiPWSIPFT
OrthoDBiEOG091G0MAU
PhylomeDBiQ9BYG8
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

Q9BYG8-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:508
Mass (Da):57,692
Last modified:November 2, 2010 - v3
Checksum:i9CB6054AFA1ED88C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5J4A0A2R8Y5J4_HUMAN
Gasdermin-C
GSDMC
508Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02813823P → S1 PublicationCorresponds to variant dbSNP:rs10090835Ensembl.1
Natural variantiVAR_028139150R → K. Corresponds to variant dbSNP:rs16904151Ensembl.1
Natural variantiVAR_028140475M → 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
CCDSiCCDS6360.1
RefSeqiNP_113603.1, NM_031415.2
UniGeneiHs.133244

Genome annotation databases

EnsembliENST00000276708; ENSP00000276708; ENSG00000147697
ENST00000619643; ENSP00000482343; ENSG00000147697
GeneIDi56169
KEGGihsa:56169
UCSCiuc003ysr.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
CCDSiCCDS6360.1
RefSeqiNP_113603.1, NM_031415.2
UniGeneiHs.133244

3D structure databases

ProteinModelPortaliQ9BYG8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121101, 1 interactor

Protein family/group databases

TCDBi1.C.123.1.4 the pore-forming gasdermin (gasdermin) family

PTM databases

iPTMnetiQ9BYG8
PhosphoSitePlusiQ9BYG8

Polymorphism and mutation databases

BioMutaiGSDMC
DMDMi311033444

Proteomic databases

EPDiQ9BYG8
PaxDbiQ9BYG8
PeptideAtlasiQ9BYG8
PRIDEiQ9BYG8
ProteomicsDBi79642

Protocols and materials databases

DNASUi56169
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276708; ENSP00000276708; ENSG00000147697
ENST00000619643; ENSP00000482343; ENSG00000147697
GeneIDi56169
KEGGihsa:56169
UCSCiuc003ysr.3 human

Organism-specific databases

CTDi56169
DisGeNETi56169
EuPathDBiHostDB:ENSG00000147697.8
GeneCardsiGSDMC
H-InvDBiHIX0034239
HGNCiHGNC:7151 GSDMC
HPAiHPA023670
HPA024767
HPA026317
MIMi608384 gene
neXtProtiNX_Q9BYG8
OpenTargetsiENSG00000147697
PharmGKBiPA162390324
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVCF Eukaryota
ENOG4111AD5 LUCA
GeneTreeiENSGT00530000063218
HOGENOMiHOG000082450
HOVERGENiHBG107969
InParanoidiQ9BYG8
KOiK22143
OMAiPWSIPFT
OrthoDBiEOG091G0MAU
PhylomeDBiQ9BYG8
TreeFamiTF331886

Miscellaneous databases

GenomeRNAii56169
PROiPR:Q9BYG8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147697 Expressed in 107 organ(s), highest expression level in esophagus mucosa
CleanExiHS_GSDMC
GenevisibleiQ9BYG8 HS

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 nameiGSDMC_HUMAN
AccessioniPrimary (citable) accession number: Q9BYG8
Secondary accession number(s): Q5XKF3, Q6P494
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 106 of the entry and version 3 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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