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Protein

Gasdermin-A

Gene

GSDMA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Upon activation, mediates pyroptosis.By similarity1 Publication

GO - Biological processi

  • apoptotic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Necrosis

Names & Taxonomyi

Protein namesi
Recommended name:
Gasdermin-A
Alternative name(s):
Gasdermin-1
Gene namesi
Name:GSDMA
Synonyms:GSDM, GSDM1
ORF Names:FKSG9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:13311. GSDMA.

Subcellular locationi

GO - Cellular componenti

  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390274.

Polymorphism and mutation databases

BioMutaiGSDMA.
DMDMi296439478.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 445445Gasdermin-APRO_0000148173Add
BLAST

Proteomic databases

EPDiQ96QA5.
PaxDbiQ96QA5.
PRIDEiQ96QA5.

PTM databases

iPTMnetiQ96QA5.
PhosphoSiteiQ96QA5.

Expressioni

Tissue specificityi

Expressed predominantly in the gastrointestinal tract and, at a lower level, in the skin. Also detected in mammary gland. In the gastrointestinal tract, mainly expressed in differentiated cells, including the differentiated cell layer of esophagus and mucus-secreting pit cells of the gastric epithelium. Down-regulateded in gastric cancer cells.3 Publications

Gene expression databases

BgeeiQ96QA5.
CleanExiHS_GSDMA.
ExpressionAtlasiQ96QA5. baseline and differential.

Organism-specific databases

HPAiHPA023313.
HPA024207.

Interactioni

Protein-protein interaction databases

BioGridi129762. 8 interactions.
IntActiQ96QA5. 1 interaction.
STRINGi9606.ENSP00000301659.

Structurei

3D structure databases

ProteinModelPortaliQ96QA5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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

eggNOGiENOG410IH8H. Eukaryota.
ENOG41116WI. LUCA.
GeneTreeiENSGT00530000063218.
HOGENOMiHOG000082450.
HOVERGENiHBG107968.
InParanoidiQ96QA5.
OMAiFRVRQLM.
OrthoDBiEOG7V766H.
PhylomeDBiQ96QA5.
TreeFamiTF331886.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q96QA5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTMFENVTRA LARQLNPRGD LTPLDSLIDF KRFHPFCLVL RKRKSTLFWG
60 70 80 90 100
ARYVRTDYTL LDVLEPGSSP SDPTDTGNFG FKNMLDTRVE GDVDVPKTVK
110 120 130 140 150
VKGTAGLSQN STLEVQTLSV APKALETVQE RKLAADHPFL KEMQDQGENL
160 170 180 190 200
YVVMEVVETV QEVTLERAGK AEACFSLPFF APLGLQGSIN HKEAVTIPKG
210 220 230 240 250
CVLAFRVRQL MVKGKDEWDI PHICNDNMQT FPPGEKSGEE KVILIQASDV
260 270 280 290 300
GDVHEGFRTL KEEVQRETQQ VEKLSRVGQS SLLSSLSKLL GKKKELQDLE
310 320 330 340 350
LALEGALDKG HEVTLEALPK DVLLSKEAVG AILYFVGALT ELSEAQQKLL
360 370 380 390 400
VKSMEKKILP VQLKLVESTM EQNFLLDKEG VFPLQPELLS SLGDEELTLT
410 420 430 440
EALVGLSGLE VQRSGPQYMW DPDTLPRLCA LYAGLSLLQQ LTKAS
Length:445
Mass (Da):49,365
Last modified:May 18, 2010 - v4
Checksum:iFC745B63B9C40BCF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti131 – 1311R → RR in AAL14426 (Ref. 2) Curated
Sequence conflicti181 – 1866APLGLQ → LPIGAT in AAL14426 (Ref. 2) Curated
Sequence conflicti235 – 2428EKSGEEKV → GKPGEGKF in AAL14426 (Ref. 2) Curated
Sequence conflicti252 – 2532DV → EM in AAL14426 (Ref. 2) Curated
Sequence conflicti367 – 3682ES → RG in AAL14426 (Ref. 2) Curated
Sequence conflicti437 – 4371L → H in BAC04790 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181R → Q.
Corresponds to variant rs3894194 [ dbSNP | Ensembl ].
VAR_035010
Natural varianti128 – 1281V → L.3 Publications
Corresponds to variant rs7212938 [ dbSNP | Ensembl ].
VAR_035011
Natural varianti130 – 1301E → K.1 Publication
Corresponds to variant rs7212944 [ dbSNP | Ensembl ].
VAR_035012
Natural varianti314 – 3141T → N.1 Publication
Corresponds to variant rs56030650 [ dbSNP | Ensembl ].
VAR_062005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB093591 mRNA. Translation: BAC75636.1.
AF307953 mRNA. Translation: AAL14426.1.
AK096439 mRNA. Translation: BAC04790.1.
AC090844 Genomic DNA. No translation available.
BC109197 mRNA. Translation: AAI09198.1.
CCDSiCCDS45669.1.
RefSeqiNP_835465.2. NM_178171.4.
XP_006721895.1. XM_006721832.2.
UniGeneiHs.448873.

Genome annotation databases

EnsembliENST00000301659; ENSP00000301659; ENSG00000167914.
GeneIDi284110.
KEGGihsa:284110.
UCSCiuc002htl.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB093591 mRNA. Translation: BAC75636.1.
AF307953 mRNA. Translation: AAL14426.1.
AK096439 mRNA. Translation: BAC04790.1.
AC090844 Genomic DNA. No translation available.
BC109197 mRNA. Translation: AAI09198.1.
CCDSiCCDS45669.1.
RefSeqiNP_835465.2. NM_178171.4.
XP_006721895.1. XM_006721832.2.
UniGeneiHs.448873.

3D structure databases

ProteinModelPortaliQ96QA5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129762. 8 interactions.
IntActiQ96QA5. 1 interaction.
STRINGi9606.ENSP00000301659.

PTM databases

iPTMnetiQ96QA5.
PhosphoSiteiQ96QA5.

Polymorphism and mutation databases

BioMutaiGSDMA.
DMDMi296439478.

Proteomic databases

EPDiQ96QA5.
PaxDbiQ96QA5.
PRIDEiQ96QA5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301659; ENSP00000301659; ENSG00000167914.
GeneIDi284110.
KEGGihsa:284110.
UCSCiuc002htl.1. human.

Organism-specific databases

CTDi284110.
GeneCardsiGSDMA.
H-InvDBHIX0202459.
HGNCiHGNC:13311. GSDMA.
HPAiHPA023313.
HPA024207.
MIMi611218. gene.
neXtProtiNX_Q96QA5.
PharmGKBiPA162390274.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH8H. Eukaryota.
ENOG41116WI. LUCA.
GeneTreeiENSGT00530000063218.
HOGENOMiHOG000082450.
HOVERGENiHBG107968.
InParanoidiQ96QA5.
OMAiFRVRQLM.
OrthoDBiEOG7V766H.
PhylomeDBiQ96QA5.
TreeFamiTF331886.

Miscellaneous databases

GenomeRNAii284110.
NextBioi94545.
PROiQ96QA5.
SOURCEiSearch...

Gene expression databases

BgeeiQ96QA5.
CleanExiHS_GSDMA.
ExpressionAtlasiQ96QA5. baseline and differential.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling."
    Saeki N., Kim D.H., Usui T., Aoyagi K., Tatsuta T., Aoki K., Yanagihara K., Tamura M., Mizushima H., Sakamoto H., Ogawa K., Ohki M., Shiroishi T., Yoshida T., Sasaki H.
    Oncogene 26:6488-6498(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS LEU-128 AND LYS-130.
    Tissue: Stomach.
  2. "FKSG9, a gastric cancer-related gene, is localized to human chromosome 17."
    Wang Y.-G.
    Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-128.
    Tissue: Tongue.
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LEU-128 AND ASN-314.
  6. "Gasdermin (Gsdm) localizing to mouse chromosome 11 is predominantly expressed in upper gastrointestinal tract but significantly suppressed in human gastric cancer cells."
    Saeki N., Kuwahara Y., Sasaki H., Satoh H., Shiroishi T.
    Mamm. Genome 11:718-724(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium."
    Saeki N., Usui T., Aoyagi K., Kim D.H., Sato M., Mabuchi T., Yanagihara K., Ogawa K., Sakamoto H., Yoshida T., Sasaki H.
    Genes Chromosomes Cancer 48:261-271(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGSDMA_HUMAN
AccessioniPrimary (citable) accession number: Q96QA5
Secondary accession number(s): Q32MC5, Q86VE7, Q8N1M6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: April 13, 2016
This is version 91 of the entry and version 4 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.