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Protein

Gasdermin-B

Gene

GSDMB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Upon activation, mediates pyroptosis.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Necrosis

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

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390303.

Polymorphism and mutation databases

BioMutaiGSDMB.
DMDMi182647404.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 411411Gasdermin-BPRO_0000329058Add
BLAST

Proteomic databases

PaxDbiQ8TAX9.
PRIDEiQ8TAX9.

PTM databases

iPTMnetiQ8TAX9.
PhosphoSiteiQ8TAX9.

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

BgeeiQ8TAX9.
CleanExiHS_GSDMB.
ExpressionAtlasiQ8TAX9. baseline and differential.
GenevisibleiQ8TAX9. HS.

Organism-specific databases

HPAiCAB013681.
HPA023925.
HPA052407.

Interactioni

Protein-protein interaction databases

BioGridi120972. 8 interactions.
IntActiQ8TAX9. 6 interactions.
STRINGi9606.ENSP00000353465.

Structurei

3D structure databases

ProteinModelPortaliQ8TAX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili243 – 27129Sequence analysisAdd
BLAST

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.
OrthoDBiEOG7W41C2.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti65 – 651D → H in AAF69638 (PubMed:11483580).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221E → G.
Corresponds to variant rs12450091 [ dbSNP | Ensembl ].
VAR_042632
Natural varianti132 – 1321T → A.
Corresponds to variant rs4619433 [ dbSNP | Ensembl ].
VAR_042633
Natural varianti245 – 2451D → G in a breast cancer sample; somatic mutation. 1 Publication
VAR_042634
Natural varianti299 – 2991G → R.2 Publications
Corresponds to variant rs2305479 [ dbSNP | Ensembl ].
VAR_042635
Natural varianti306 – 3061P → S.2 Publications
Corresponds to variant rs2305480 [ dbSNP | Ensembl ].
VAR_042636
Natural varianti325 – 3251R → C.
Corresponds to variant rs16965388 [ dbSNP | Ensembl ].
VAR_042637

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 248248Missing in isoform 5. 1 PublicationVSP_032936Add
BLAST
Alternative sequencei221 – 23818SAGLD…SFPEG → R in isoform 2. 1 PublicationVSP_032937Add
BLAST
Alternative sequencei221 – 23717SAGLD…KSFPE → KKDGASSCL in isoform 3. 1 PublicationVSP_032938Add
BLAST
Alternative sequencei221 – 2255SAGLD → N in isoform 4 and isoform 6. 2 PublicationsVSP_032939
Alternative sequencei237 – 2371E → EEKDGASSCL in isoform 4. 1 PublicationVSP_032940

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_011523318.1. XM_011525016.1. [Q8TAX9-4]
XP_011523319.1. XM_011525017.1. [Q8TAX9-1]
XP_011523320.1. XM_011525018.1. [Q8TAX9-6]
XP_011523321.1. XM_011525019.1. [Q8TAX9-3]
XP_011523322.1. XM_011525020.1. [Q8TAX9-2]
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_011523318.1. XM_011525016.1. [Q8TAX9-4]
XP_011523319.1. XM_011525017.1. [Q8TAX9-1]
XP_011523320.1. XM_011525018.1. [Q8TAX9-6]
XP_011523321.1. XM_011525019.1. [Q8TAX9-3]
XP_011523322.1. XM_011525020.1. [Q8TAX9-2]
UniGeneiHs.306777.

3D structure databases

ProteinModelPortaliQ8TAX9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120972. 8 interactions.
IntActiQ8TAX9. 6 interactions.
STRINGi9606.ENSP00000353465.

PTM databases

iPTMnetiQ8TAX9.
PhosphoSiteiQ8TAX9.

Polymorphism and mutation databases

BioMutaiGSDMB.
DMDMi182647404.

Proteomic databases

PaxDbiQ8TAX9.
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.
GeneCardsiGSDMB.
HGNCiHGNC:23690. GSDMB.
HPAiCAB013681.
HPA023925.
HPA052407.
MIMi611221. gene.
neXtProtiNX_Q8TAX9.
PharmGKBiPA162390303.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVE6. Eukaryota.
ENOG41115RT. LUCA.
GeneTreeiENSGT00730000111480.
HOGENOMiHOG000069990.
HOVERGENiHBG102731.
InParanoidiQ8TAX9.
OMAiENLYLVT.
OrthoDBiEOG7W41C2.
PhylomeDBiQ8TAX9.
TreeFamiTF331886.

Miscellaneous databases

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

Gene expression databases

BgeeiQ8TAX9.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs."
    Yu Y., Zhang C., Zhou G., Wu S., Qu X., Wei H., Xing G., Dong C., Zhai Y., Wan J., Ouyang S., Li L., Zhang S., Zhou K., Zhang Y., Wu C., He F.
    Genome Res. 11:1392-1403(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Fetal liver.
  2. "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] (ISOFORMS 3 AND 6), VARIANTS ARG-299 AND SER-306.
    Tissue: Colon.
  3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORM 1), VARIANTS ARG-299 AND SER-306.
    Tissue: Lung.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-411 (ISOFORM 4).
    Tissue: Rectum tumor.
  8. "Transcriptional control of the HERV-H LTR element of the GSDML gene in human tissues and cancer cells."
    Sin H.-S., Huh J.-W., Kim D.-S., Kang D.W., Min D.S., Kim T.-H., Ha H.-S., Kim H.-H., Lee S.-Y., Kim H.-S.
    Arch. Virol. 151:1985-1994(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE PROMOTER USAGE.
  9. "Identification of a predictive gene expression signature of cervical lymph node metastasis in oral squamous cell carcinoma."
    Nguyen S.T., Hasegawa S., Tsuda H., Tomioka H., Ushijima M., Noda M., Omura K., Miki Y.
    Cancer Sci. 98:740-746(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: MARKER OF CERVICAL LYMPH NODE METASTASIS.
  10. "Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner."
    Tamura M., Tanaka S., Fujii T., Aoki A., Komiyama H., Ezawa K., Sumiyama K., Sagai T., Shiroishi T.
    Genomics 89:618-629(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE FAMILY.
  11. "Differential expression and localisation of gasdermin-like (GSDML), a novel member of the cancer-associated GSDMDC protein family, in neoplastic and non-neoplastic gastric, hepatic, and colon tissues."
    Carl-McGrath S., Schneider-Stock R., Ebert M., Roecken C.
    Pathology 40:13-24(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
  12. "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.
  13. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-245.

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: June 8, 2016
This is version 93 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.