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Protein

Gasdermin-B

Gene

GSDMB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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:ENSG00000073605-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Gasdermin-B
Alternative name(s):
Gasdermin-like protein
Gene namesi
Name:GSDMB
Synonyms:GSDML
ORF Names:PP4052, PRO2521
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:23690. GSDMB.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Cytoplasmcytosol By similarity
  • Cell membrane By similarity

  • Note: Vesicular localization in the apical region of gastric chief cells and colonic surface mucous cells, and the basal region of neuroendocrine cells.1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55876.
OpenTargetsiENSG00000073605.
PharmGKBiPA162390303.

Polymorphism and mutation databases

BioMutaiGSDMB.
DMDMi182647404.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290581 – 411Gasdermin-BAdd BLAST411

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ8TAX9.
PeptideAtlasiQ8TAX9.
PRIDEiQ8TAX9.

PTM databases

iPTMnetiQ8TAX9.
PhosphoSitePlusiQ8TAX9.

Expressioni

Tissue specificityi

In the gastrointestinal tract, expressed in proliferating cells, including in the basal cell layer of esophagus and in isthmus/neck of stomach.1 Publication

Gene expression databases

BgeeiENSG00000073605.
CleanExiHS_GSDMB.
ExpressionAtlasiQ8TAX9. baseline and differential.
GenevisibleiQ8TAX9. HS.

Organism-specific databases

HPAiCAB013681.
HPA023925.
HPA052407.

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

BioGridi120972. 8 interactors.
IntActiQ8TAX9. 6 interactors.
STRINGi9606.ENSP00000353465.

Structurei

3D structure databases

ProteinModelPortaliQ8TAX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili243 – 271Sequence analysisAdd BLAST29

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IVE6. Eukaryota.
ENOG41115RT. LUCA.
GeneTreeiENSGT00730000111480.
HOGENOMiHOG000069990.
HOVERGENiHBG102731.
InParanoidiQ8TAX9.
OMAiENLYLVT.
OrthoDBiEOG091G0EFR.
PhylomeDBiQ8TAX9.
TreeFamiTF331886.

Family and domain databases

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

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Isoforms expression varies between tumor and non-tumor cells and changes in the regulation of isoforms transcription and translation may be seen in the development of gastrointestinal and hepatic cancers.
Isoform 1 (identifier: Q8TAX9-1) [UniParc]FASTAAdd to basket

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
MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR
60 70 80 90 100
HYTTGLTLMD ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL
110 120 130 140 150
PKEITISGSF QGFHHQKIKI SENRISQQYL ATLENRKLKR ELPFSFRSIN
160 170 180 190 200
TRENLYLVTE TLETVKEETL KSDRQYKFWS QISQGHLSYK HKGQREVTIP
210 220 230 240 250
PNRVLSYRVK QLVFPNKETM SAGLDIHFRG KTKSFPEGKS LGSEDSRNMK
260 270 280 290 300
EKLEDMESVL KDLTEEKRKD VLNSLAKCLG KEDIRQDLEQ RVSEVLISGE
310 320 330 340 350
LHMEDPDKPL LSSLFNAAGV LVEARAKAIL DFLDALLELS EEQQFVAEAL
360 370 380 390 400
EKGTLPLLKD QVKSVMEQNW DELASSPPDM DYDPEARILC ALYVVVSILL
410
ELAEGPTSVS S
Length:411
Mass (Da):46,786
Last modified:April 8, 2008 - v2
Checksum:iC40823DA13F8E11A
GO
Isoform 2 (identifier: Q8TAX9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-238: SAGLDIHFRGKTKSFPEG → R

Show »
Length:394
Mass (Da):45,013
Checksum:i5515F6FE2A8492B6
GO
Isoform 3 (identifier: Q8TAX9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-237: SAGLDIHFRGKTKSFPE → KKDGASSCL

Show »
Length:403
Mass (Da):45,804
Checksum:iBEE14FA3CF1F54E2
GO
Isoform 4 (identifier: Q8TAX9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-225: SAGLD → N
     237-237: E → EEKDGASSCL

Show »
Length:416
Mass (Da):47,348
Checksum:i04DDA43952EF603F
GO
Isoform 5 (identifier: Q8TAX9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-248: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):18,159
Checksum:i04613B3AE40027BE
GO
Isoform 6 (identifier: Q8TAX9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-225: SAGLD → N

Note: No experimental confirmation available.
Show »
Length:407
Mass (Da):46,457
Checksum:iA9A4BEEA1E39BE54
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti65D → H in AAF69638 (PubMed:11483580).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042632122E → G.Corresponds to variant rs12450091dbSNPEnsembl.1
Natural variantiVAR_042633132T → A.Corresponds to variant rs4619433dbSNPEnsembl.1
Natural variantiVAR_042634245D → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_042635299G → R.2 PublicationsCorresponds to variant rs2305479dbSNPEnsembl.1
Natural variantiVAR_042636306P → S.2 PublicationsCorresponds to variant rs2305480dbSNPEnsembl.1
Natural variantiVAR_042637325R → C.Corresponds to variant rs16965388dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0329361 – 248Missing in isoform 5. 1 PublicationAdd BLAST248
Alternative sequenceiVSP_032937221 – 238SAGLD…SFPEG → R in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_032938221 – 237SAGLD…KSFPE → KKDGASSCL in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_032939221 – 225SAGLD → N in isoform 4 and isoform 6. 2 Publications5
Alternative sequenceiVSP_032940237E → EEKDGASSCL in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF119884 mRNA. Translation: AAF69638.1.
AK000409 mRNA. Translation: BAA91146.1.
AK296607 mRNA. Translation: BAG59219.1.
AF258572 mRNA. Translation: AAG23775.1.
AC090844 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60614.1.
BC025682 mRNA. Translation: AAH25682.1.
BX538068 mRNA. Translation: CAD97998.1.
CCDSiCCDS11354.1. [Q8TAX9-2]
CCDS42313.1. [Q8TAX9-3]
CCDS54119.1. [Q8TAX9-6]
CCDS54120.1. [Q8TAX9-4]
RefSeqiNP_001035936.1. NM_001042471.1. [Q8TAX9-3]
NP_001159430.1. NM_001165958.1. [Q8TAX9-4]
NP_001159431.1. NM_001165959.1. [Q8TAX9-6]
NP_061000.2. NM_018530.2. [Q8TAX9-2]
XP_016880339.1. XM_017024850.1. [Q8TAX9-4]
XP_016880340.1. XM_017024851.1. [Q8TAX9-1]
XP_016880341.1. XM_017024852.1. [Q8TAX9-3]
UniGeneiHs.306777.

Genome annotation databases

EnsembliENST00000309481; ENSP00000312584; ENSG00000073605. [Q8TAX9-3]
ENST00000360317; ENSP00000353465; ENSG00000073605. [Q8TAX9-4]
ENST00000394175; ENSP00000377729; ENSG00000073605. [Q8TAX9-2]
ENST00000394179; ENSP00000377733; ENSG00000073605. [Q8TAX9-3]
ENST00000418519; ENSP00000415049; ENSG00000073605. [Q8TAX9-4]
ENST00000520542; ENSP00000430157; ENSG00000073605. [Q8TAX9-6]
GeneIDi55876.
KEGGihsa:55876.
UCSCiuc002htg.3. human. [Q8TAX9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF119884 mRNA. Translation: AAF69638.1.
AK000409 mRNA. Translation: BAA91146.1.
AK296607 mRNA. Translation: BAG59219.1.
AF258572 mRNA. Translation: AAG23775.1.
AC090844 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60614.1.
BC025682 mRNA. Translation: AAH25682.1.
BX538068 mRNA. Translation: CAD97998.1.
CCDSiCCDS11354.1. [Q8TAX9-2]
CCDS42313.1. [Q8TAX9-3]
CCDS54119.1. [Q8TAX9-6]
CCDS54120.1. [Q8TAX9-4]
RefSeqiNP_001035936.1. NM_001042471.1. [Q8TAX9-3]
NP_001159430.1. NM_001165958.1. [Q8TAX9-4]
NP_001159431.1. NM_001165959.1. [Q8TAX9-6]
NP_061000.2. NM_018530.2. [Q8TAX9-2]
XP_016880339.1. XM_017024850.1. [Q8TAX9-4]
XP_016880340.1. XM_017024851.1. [Q8TAX9-1]
XP_016880341.1. XM_017024852.1. [Q8TAX9-3]
UniGeneiHs.306777.

3D structure databases

ProteinModelPortaliQ8TAX9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120972. 8 interactors.
IntActiQ8TAX9. 6 interactors.
STRINGi9606.ENSP00000353465.

PTM databases

iPTMnetiQ8TAX9.
PhosphoSitePlusiQ8TAX9.

Polymorphism and mutation databases

BioMutaiGSDMB.
DMDMi182647404.

Proteomic databases

PaxDbiQ8TAX9.
PeptideAtlasiQ8TAX9.
PRIDEiQ8TAX9.

Protocols and materials databases

DNASUi55876.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309481; ENSP00000312584; ENSG00000073605. [Q8TAX9-3]
ENST00000360317; ENSP00000353465; ENSG00000073605. [Q8TAX9-4]
ENST00000394175; ENSP00000377729; ENSG00000073605. [Q8TAX9-2]
ENST00000394179; ENSP00000377733; ENSG00000073605. [Q8TAX9-3]
ENST00000418519; ENSP00000415049; ENSG00000073605. [Q8TAX9-4]
ENST00000520542; ENSP00000430157; ENSG00000073605. [Q8TAX9-6]
GeneIDi55876.
KEGGihsa:55876.
UCSCiuc002htg.3. human. [Q8TAX9-1]

Organism-specific databases

CTDi55876.
DisGeNETi55876.
GeneCardsiGSDMB.
HGNCiHGNC:23690. GSDMB.
HPAiCAB013681.
HPA023925.
HPA052407.
MIMi611221. gene.
neXtProtiNX_Q8TAX9.
OpenTargetsiENSG00000073605.
PharmGKBiPA162390303.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVE6. Eukaryota.
ENOG41115RT. LUCA.
GeneTreeiENSGT00730000111480.
HOGENOMiHOG000069990.
HOVERGENiHBG102731.
InParanoidiQ8TAX9.
OMAiENLYLVT.
OrthoDBiEOG091G0EFR.
PhylomeDBiQ8TAX9.
TreeFamiTF331886.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000073605-MONOMER.

Miscellaneous databases

ChiTaRSiGSDMB. human.
GenomeRNAii55876.
PROiQ8TAX9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000073605.
CleanExiHS_GSDMB.
ExpressionAtlasiQ8TAX9. baseline and differential.
GenevisibleiQ8TAX9. HS.

Family and domain databases

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

Entry informationi

Entry nameiGSDMB_HUMAN
AccessioniPrimary (citable) accession number: Q8TAX9
Secondary accession number(s): B4DKK7
, Q7Z377, Q8WY76, Q9NX71, Q9P163
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: November 2, 2016
This is version 97 of the entry and version 2 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

Miscellaneous

The GSDML gene is predicted to be generated due to a duplication of GSDM gene; the rodent GSDML ortholog failed to be yet identified. The evolutionary recombination hotspot around GSDML-GSDM locus is closely related to the oncogenomic recombination hotspot or fragile sites within the human genome.
Long terminal repeat (LTR) of endogenous retroviruse HERV-H with reverse orientation may serve as alternative promoters of GSDML gene.
GSDML may be used as predictive markers of cervical lymph node metastasis and may help, with a panel of other genes, to discriminate between primary tumors of oral squamous cell carcinoma that metastasize to cervical lymph node and those that do not metastasize.

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.