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Protein

Gasdermin-C

Gene

GSDMC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Necrosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147697-MONOMER.

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

HGNCiHGNC:7151. GSDMC.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB-SubCell
  • microtubule organizing center Source: HPA
  • mitochondrion Source: HPA
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi319L → D: Low spontaneous pyropoptis-inducing activity. 1 Publication1
Mutagenesisi398Y → D: Low spontaneous pyropoptis-inducing activity. 1 Publication1
Mutagenesisi402A → D: Spontaneous pyropoptis-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.

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.
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.
STRINGi9606.ENSP00000276708.

Structurei

3D structure databases

ProteinModelPortaliQ9BYG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 275Triggers pyroptosis1 PublicationAdd BLAST275

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.
OMAiCRRRGDN.
OrthoDBiEOG091G0MAU.
PhylomeDBiQ9BYG8.
TreeFamiTF331886.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PANTHERiPTHR16399. PTHR16399. 2 hits.
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02813823P → S.1 PublicationCorresponds to variant rs10090835dbSNPEnsembl.1
Natural variantiVAR_028139150R → K.Corresponds to variant rs16904151dbSNPEnsembl.1
Natural variantiVAR_028140475M → T.1 PublicationCorresponds to variant rs4144738dbSNPEnsembl.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

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.
STRINGi9606.ENSP00000276708.

PTM databases

iPTMnetiQ9BYG8.
PhosphoSitePlusiQ9BYG8.

Polymorphism and mutation databases

BioMutaiGSDMC.
DMDMi311033444.

Proteomic databases

EPDiQ9BYG8.
PaxDbiQ9BYG8.
PeptideAtlasiQ9BYG8.
PRIDEiQ9BYG8.

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.
GeneCardsiGSDMC.
H-InvDBHIX0034239.
HGNCiHGNC:7151. GSDMC.
HPAiHPA023670.
HPA024767.
HPA026317.
MIMi608384. gene.
neXtProtiNX_Q9BYG8.
OpenTargetsiENSG00000147697.
PharmGKBiPA162390324.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVCF. Eukaryota.
ENOG4111AD5. LUCA.
GeneTreeiENSGT00530000063218.
HOGENOMiHOG000082450.
HOVERGENiHBG107969.
InParanoidiQ9BYG8.
OMAiCRRRGDN.
OrthoDBiEOG091G0MAU.
PhylomeDBiQ9BYG8.
TreeFamiTF331886.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147697-MONOMER.

Miscellaneous databases

GenomeRNAii56169.
PROiQ9BYG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147697.
CleanExiHS_GSDMC.
GenevisibleiQ9BYG8. HS.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PANTHERiPTHR16399. PTHR16399. 2 hits.
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGSDMC_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 93 of the entry and version 3 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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.