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Protein

Gasdermin-E

Gene

GSDME

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).2 Publications
Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216).5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • cardiolipin binding Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processNecrosis

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.C.123.1.5 the pore-forming gasdermin (gasdermin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gasdermin-E1 Publication
Alternative name(s):
Inversely correlated with estrogen receptor expression 1
Short name:
ICERE-1
Non-syndromic hearing impairment protein 51 Publication
Cleaved into the following 2 chains:
Gasdermin-E, N-terminal1 Publication
Short name:
GSDME-NT1 Publication
Gasdermin-E, C-terminal1 Publication
Short name:
GSDME-CT1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GSDMEImported
Synonyms:DFNA51 Publication, ICERE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000105928.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2810 GSDME

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608798 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60443

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 5 (DFNA5)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:600994
Is a tumor suppressor gene with an important role in colorectal cancer (CRC).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2F → A: No effect on plasma membrane targeting. Decreases induction of necrotic activity. Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-40. 1 Publication1
Mutagenesisi39K → A: Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-40 and/or A-41. 1 Publication1
Mutagenesisi40K → A: No effect on plasma membrane targeting. No effect on induction of cytotoxivity. Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-2 or A-39 and A-41. 1 Publication1
Mutagenesisi41K → A: Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-39 and/or A-41. 1 Publication1
Mutagenesisi267D → A: Abolishes cleavage by CASP3. Abolishes pyroptosis induction. 1 Publication1
Mutagenesisi270D → A or E: Abolishes cleavage by CASP3. Abolishes pyroptosis induction. 2 Publications1
Mutagenesisi313I → D: No spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi388F → D: Low spontaneous pyroptosis-inducing activity. 1 Publication1
Mutagenesisi392A → D: Low spontaneous pyroptosis-inducing activity. 1 Publication1

Keywords - Diseasei

Deafness, Non-syndromic deafness, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
1687

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GSDME

MalaCards human disease database

More...
MalaCardsi
GSDME
MIMi600994 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000105928

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27281

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GSDME

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001481781 – 496Gasdermin-EAdd BLAST496
ChainiPRO_00004427861 – 270Gasdermin-E, N-terminal1 Publication1 PublicationAdd BLAST270
ChainiPRO_0000442787271 – 496Gasdermin-E, C-terminal1 PublicationAdd BLAST226

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Cleavage at Asp-270 by CASP3 (mature and uncleaved precursor forms) relieves autoinhibition and is sufficient to initiate pyroptosis.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei270 – 271Cleavage; by CASP31 Publication2

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60443

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60443

MaxQB - The MaxQuant DataBase

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MaxQBi
O60443

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60443

PeptideAtlas

More...
PeptideAtlasi
O60443

PRoteomics IDEntifications database

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PRIDEi
O60443

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49403
49404 [O60443-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60443

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60443

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000105928 Expressed in 210 organ(s), highest expression level in placenta

CleanEx database of gene expression profiles

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CleanExi
HS_DFNA5

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60443 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60443 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB019306
HPA011326

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108049, 20 interactors

Protein interaction database and analysis system

More...
IntActi
O60443, 5 interactors

Molecular INTeraction database

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MINTi
O60443

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000339587

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60443

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 56Membrane targeting domain1 PublicationAdd BLAST56

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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, that is released upon cleavage by CASP3.By similarity2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the gasdermin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHRC Eukaryota
ENOG410XTJB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155880

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000065726

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051340

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60443

KEGG Orthology (KO)

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KOi
K22146

Identification of Orthologs from Complete Genome Data

More...
OMAi
IVTTQKC

Database of Orthologous Groups

More...
OrthoDBi
1397132at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60443

TreeFam database of animal gene trees

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TreeFami
TF352821

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040460 Gasdermin_pore

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04598 Gasdermin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60443-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFAKATRNFL REVDADGDLI AVSNLNDSDK LQLLSLVTKK KRFWCWQRPK
60 70 80 90 100
YQFLSLTLGD VLIEDQFPSP VVVESDFVKY EGKFANHVSG TLETALGKVK
110 120 130 140 150
LNLGGSSRVE SQSSFGTLRK QEVDLQQLIR DSAERTINLR NPVLQQVLEG
160 170 180 190 200
RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC GGIVGIQTKT VQVSATEDGN
210 220 230 240 250
VTKDSNVVLE IPAATTIAYG VIELYVKLDG QFEFCLLRGK QGGFENKKRI
260 270 280 290 300
DSVYLDPLVF REFAFIDMPD AAHGISSQDG PLSVLKQATL LLERNFHPFA
310 320 330 340 350
ELPEPQQTAL SDIFQAVLFD DELLMVLEPV CDDLVSGLSP TVAVLGELKP
360 370 380 390 400
RQQQDLVAFL QLVGCSLQGG CPGPEDAGSK QLFMTAYFLV SALAEMPDSA
410 420 430 440 450
AALLGTCCKL QIIPTLCHLL RALSDDGVSD LEDPTLTPLK DTERFGIVQR
460 470 480 490
LFASADISLE RLKSSVKAVI LKDSKVFPLL LCITLNGLCA LGREHS
Length:496
Mass (Da):54,555
Last modified:August 1, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA407C9AC31AA716B
GO
Isoform 2 (identifier: O60443-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.

Note: No experimental confirmation available.
Show »
Length:101
Mass (Da):10,906
Checksum:i31462F171F9DB7B8
GO
Isoform 3 (identifier: O60443-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.

Show »
Length:332
Mass (Da):36,043
Checksum:i5F4C0AD8EE2734F6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0L2H7C0L2_HUMAN
Gasdermin-E
GSDME
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C147H7C147_HUMAN
Gasdermin-E
GSDME
192Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZJ0H7BZJ0_HUMAN
Gasdermin-E
GSDME
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JSR4C9JSR4_HUMAN
Gasdermin-E
GSDME
356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB83938 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAC39635 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_030824142P → T1 PublicationCorresponds to variant dbSNP:rs754554EnsemblClinVar.1
Natural variantiVAR_053102174M → T. Corresponds to variant dbSNP:rs876306Ensembl.1
Natural variantiVAR_030825207V → M. Corresponds to variant dbSNP:rs12540919EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0041901 – 395Missing in isoform 2. 2 PublicationsAdd BLAST395
Alternative sequenceiVSP_0442761 – 164Missing in isoform 3. 1 PublicationAdd BLAST164

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF073308 mRNA Translation: AAC69324.1
AF075171 mRNA Translation: AAC69326.1
AF131765 mRNA Translation: AAD20039.1
AK094714 mRNA Translation: BAG52917.1
AK314402 mRNA Translation: BAG37026.1
AC003093 Genomic DNA Translation: AAB83938.1 Sequence problems.
CH236948 Genomic DNA Translation: EAL24246.1
CH471073 Genomic DNA Translation: EAW93813.1
BC125065 mRNA Translation: AAI25066.1
AF007790 mRNA Translation: AAC39635.2 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS47563.1 [O60443-3]
CCDS5389.1 [O60443-1]

NCBI Reference Sequences

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RefSeqi
NP_001120925.1, NM_001127453.1 [O60443-1]
NP_001120926.1, NM_001127454.1 [O60443-3]
NP_004394.1, NM_004403.2 [O60443-1]
XP_016867291.1, XM_017011802.1 [O60443-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.520708

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000342947; ENSP00000339587; ENSG00000105928 [O60443-1]
ENST00000409775; ENSP00000386670; ENSG00000105928 [O60443-1]
ENST00000409970; ENSP00000387119; ENSG00000105928 [O60443-3]
ENST00000419307; ENSP00000401332; ENSG00000105928 [O60443-3]
ENST00000645220; ENSP00000494186; ENSG00000105928 [O60443-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1687

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1687

UCSC genome browser

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UCSCi
uc003sxa.2 human [O60443-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073308 mRNA Translation: AAC69324.1
AF075171 mRNA Translation: AAC69326.1
AF131765 mRNA Translation: AAD20039.1
AK094714 mRNA Translation: BAG52917.1
AK314402 mRNA Translation: BAG37026.1
AC003093 Genomic DNA Translation: AAB83938.1 Sequence problems.
CH236948 Genomic DNA Translation: EAL24246.1
CH471073 Genomic DNA Translation: EAW93813.1
BC125065 mRNA Translation: AAI25066.1
AF007790 mRNA Translation: AAC39635.2 Different initiation.
CCDSiCCDS47563.1 [O60443-3]
CCDS5389.1 [O60443-1]
RefSeqiNP_001120925.1, NM_001127453.1 [O60443-1]
NP_001120926.1, NM_001127454.1 [O60443-3]
NP_004394.1, NM_004403.2 [O60443-1]
XP_016867291.1, XM_017011802.1 [O60443-3]
UniGeneiHs.520708

3D structure databases

ProteinModelPortaliO60443
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108049, 20 interactors
IntActiO60443, 5 interactors
MINTiO60443
STRINGi9606.ENSP00000339587

Protein family/group databases

TCDBi1.C.123.1.5 the pore-forming gasdermin (gasdermin) family

PTM databases

iPTMnetiO60443
PhosphoSitePlusiO60443

Polymorphism and mutation databases

BioMutaiGSDME

Proteomic databases

EPDiO60443
jPOSTiO60443
MaxQBiO60443
PaxDbiO60443
PeptideAtlasiO60443
PRIDEiO60443
ProteomicsDBi49403
49404 [O60443-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1687
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342947; ENSP00000339587; ENSG00000105928 [O60443-1]
ENST00000409775; ENSP00000386670; ENSG00000105928 [O60443-1]
ENST00000409970; ENSP00000387119; ENSG00000105928 [O60443-3]
ENST00000419307; ENSP00000401332; ENSG00000105928 [O60443-3]
ENST00000645220; ENSP00000494186; ENSG00000105928 [O60443-1]
GeneIDi1687
KEGGihsa:1687
UCSCiuc003sxa.2 human [O60443-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1687
DisGeNETi1687
EuPathDBiHostDB:ENSG00000105928.13

GeneCards: human genes, protein and diseases

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GeneCardsi
GSDME
GeneReviewsiGSDME
HGNCiHGNC:2810 GSDME
HPAiCAB019306
HPA011326
MalaCardsiGSDME
MIMi600994 phenotype
608798 gene
neXtProtiNX_O60443
OpenTargetsiENSG00000105928
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA27281

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHRC Eukaryota
ENOG410XTJB LUCA
GeneTreeiENSGT00940000155880
HOGENOMiHOG000065726
HOVERGENiHBG051340
InParanoidiO60443
KOiK22146
OMAiIVTTQKC
OrthoDBi1397132at2759
PhylomeDBiO60443
TreeFamiTF352821

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DFNA5 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DFNA5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1687

Protein Ontology

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PROi
PR:O60443

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105928 Expressed in 210 organ(s), highest expression level in placenta
CleanExiHS_DFNA5
ExpressionAtlasiO60443 baseline and differential
GenevisibleiO60443 HS

Family and domain databases

InterProiView protein in InterPro
IPR040460 Gasdermin_pore
PfamiView protein in Pfam
PF04598 Gasdermin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGSDME_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60443
Secondary accession number(s): A4D156
, B2RAX9, B3KT05, O14590, Q08AQ8, Q9UBV3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1999
Last modified: January 16, 2019
This is version 141 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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