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Protein

Gasdermin-B

Gene

GSDMB

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

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.

GO - Biological processi

Keywordsi

Biological processNecrosis

Protein family/group databases

TCDBi1.C.123.1.3 the pore-forming gasdermin (gasdermin) family

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

EuPathDBiHostDB:ENSG00000073605.18
HGNCiHGNC:23690 GSDMB
MIMi611221 gene
neXtProtiNX_Q8TAX9

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

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
ProteomicsDBi73934
73935 [Q8TAX9-2]
73936 [Q8TAX9-3]
73937 [Q8TAX9-4]
73938 [Q8TAX9-5]
73939 [Q8TAX9-6]

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

Secondary structure

1411
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi220 – 224Combined sources5
Beta strandi227 – 229Combined sources3
Turni235 – 237Combined sources3
Helixi249 – 261Combined sources13
Helixi265 – 276Combined sources12
Turni277 – 280Combined sources4
Helixi282 – 298Combined sources17
Helixi303 – 305Combined sources3
Helixi309 – 313Combined sources5
Helixi323 – 337Combined sources15
Helixi342 – 352Combined sources11
Helixi355 – 365Combined sources11
Beta strandi366 – 368Combined sources3
Helixi370 – 372Combined sources3
Helixi384 – 404Combined sources21

3D structure databases

ProteinModelPortaliQ8TAX9
SMRiQ8TAX9
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
GeneTreeiENSGT00530000063218
HOGENOMiHOG000069990
HOVERGENiHBG102731
InParanoidiQ8TAX9
KOiK22142
OMAiENLYLVT
OrthoDBiEOG091G0EFR
PhylomeDBiQ8TAX9
TreeFamiTF331886

Family and domain databases

InterProiView protein in InterPro
IPR007677 Gasdermin
PANTHERiPTHR16399 PTHR16399, 1 hit
PfamiView protein in Pfam
PF04598 Gasdermin, 2 hits

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 dbSNP:rs12450091Ensembl.1
Natural variantiVAR_042633132T → A. Corresponds to variant dbSNP:rs4619433Ensembl.1
Natural variantiVAR_042634245D → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_042635299G → R2 PublicationsCorresponds to variant dbSNP:rs2305479Ensembl.1
Natural variantiVAR_042636306P → S2 PublicationsCorresponds to variant dbSNP:rs2305480Ensembl.1
Natural variantiVAR_042637325R → C. Corresponds to variant dbSNP:rs16965388Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiGSDMB_HUMAN
AccessioniPrimary (citable) accession number: Q8TAX9
Secondary accession number(s): B4DKK7
, Q7Z377, Q8WY76, Q9NX71, Q9P163
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: June 20, 2018
This is version 104 of the entry and version 2 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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