Q9Z2D3

SS
Gene name
Gsdme
Protein name
Gasdermin-E
Names
Non-syndromic hearing impairment protein 5 homolog
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:54722
EC number
Protein Class

Descriptions

Gasdermin proteins are a pore-forming protein causing membrane permeabilization and pyroptosis, and functions downstream of the inflammatory caspases. The C-terminal gasdermin domain may adopt an intramolecular complex with the N-terminal domain, which may inhibit the activation of the N-terminal gasdermin domain as observed in GSDMD.

Autoinhibitory domains (AIDs)

279-471 (C-terminal gasdermin domain) SS

Target domain

1-246 (N-terminal gasdermin domain)

Relief mechanism

Cleavage

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9Z2D3

Entry ID Method Resolution Chain Position Source
AF-Q9Z2D3-F1 Predicted AlphaFoldDB

6 variants for Q9Z2D3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs29690906 90 G>E No Ensembl
rs225299816 184 V>M No Ensembl
rs30713457 269 L>P No Ensembl
rs29663382 287 Q>E No Ensembl
rs29667555 373 H>R No Ensembl
rs242951588 436 N>D No Ensembl

No associated diseases with Q9Z2D3

2 regional properties for Q9Z2D3

Type Name Position InterPro Accession
domain Gasdermin, pore forming domain 1 - 246 IPR040460
domain Gasdermin, PUB domain 280 - 470 IPR041263

Functions

Description
EC Number
Subcellular Localization
  • [Gasdermin-E, N-terminal]: Cell membrane ; Multi-pass membrane protein
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
cardiolipin binding Binding to cardiolipin.
phosphatidylinositol-4,5-bisphosphate binding Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
wide pore channel activity Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.

12 GO annotations of biological process

Name Definition
cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).
cellular response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
cellular response to virus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
granzyme-mediated programmed cell death signaling pathway The series of molecular signals induced by granzymes which triggers the cell death of a cell. The pathway starts with reception of a granzyme signal, and ends when the execution phase of cell death is triggered. Granzymes are serine proteases that are secreted by cytotoxic T cells and natural killer cells to induce cell death in target cells.
inner ear receptor cell differentiation The process in which relatively unspecialized cells, acquire specialized structural and/or functional features of inner ear receptor cells. Inner ear receptor cells are mechanorecptors found in the inner ear responsible for transducing signals involved in balance and sensory perception of sound.
necrotic cell death A type of cell death that is morphologically characterized by an increasingly translucent cytoplasm, swelling of organelles, minor ultrastructural modifications of the nucleus (specifically, dilatation of the nuclear membrane and condensation of chromatin into small, irregular, circumscribed patches) and increased cell volume (oncosis), culminating in the disruption of the plasma membrane and subsequent loss of intracellular contents. Necrotic cells do not fragment into discrete corpses as their apoptotic counterparts do. Moreover, their nuclei remain intact and can aggregate and accumulate in necrotic tissues.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of immune response to tumor cell Any process that activates or increases the frequency, rate, or extent of an immune response to tumor cell.
positive regulation of intrinsic apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
pyroptosis A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.
sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q7YS54 GSDME Gasdermin-E Equus caballus (Horse) SS
10 20 30 40 50 60
MFAKATRNFL KEVDAGGDLI SVSHLNDSDK LQLLSLVTKK KRYWCWQRPK YQILSATLED
70 80 90 100 110 120
VLTEGHCLSP VVVESDFVKY ESKCENHKSG AIGTVVGKVK LNVGGKGVVE SHSSFGTLRK
130 140 150 160 170 180
QEVDVQQLIQ DAVKRTVNMD NLVLQQVLES RNEVLCVLTQ KIMTTQKCVI SEHVQSEETC
190 200 210 220 230 240
GGMVGIQTKT IQVSATEDGT VTTDTNVVLE IPAATTIAYG IMELFVKQDG QFEFCLLQGK
250 260 270 280 290 300
HGGFEHERKL DSVYLDPLAY REFAFLDMLD GGQGISSQDG PLRVVKQATL HLERSFHPFA
310 320 330 340 350 360
VLPAQQQRAL FCVLQKILFD EELLRALEQV CDDVAGGLWS SQAVLAMEEL TDSQQQDLTA
370 380 390 400 410 420
FLQLVGYRIQ GEHPGPQDEV SNQKLFATAY FLVSALAEMP DNATVFLGTC CKLHVISSLC
430 440 450 460 470 480
CLLHALSDDS VCDFHNPTLA PLRDTERFGI VQRLFASADI ALERMQFSAK ATILKDSCIF
490 500 510
PLILHITLSG LSTLSKEHEE ELCQSGHATG QD