DMTN (dematin actin binding protein)

2013-05-01  

Identity

HGNC
LOCATION
8p21.3
LOCUSID
ALIAS
DMT,EPB49
FUSION GENES

Other Information

Locus ID:

NCBI: 2039
MIM: 125305
HGNC: 3382
Ensembl: ENSG00000158856

Variants:

dbSNP: 2039
ClinVar: 2039
TCGA: ENSG00000158856
COSMIC: DMTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158856ENST00000265800Q08495
ENSG00000158856ENST00000358242Q08495
ENSG00000158856ENST00000381470Q08495
ENSG00000158856ENST00000415253Q08495
ENSG00000158856ENST00000432128Q08495
ENSG00000158856ENST00000443491Q08495
ENSG00000158856ENST00000517305Q08495
ENSG00000158856ENST00000517418E5RGQ0
ENSG00000158856ENST00000517600Q08495
ENSG00000158856ENST00000517804E5RGQ0
ENSG00000158856ENST00000519333A0A087WUC0
ENSG00000158856ENST00000519850E5RJ61
ENSG00000158856ENST00000519907Q08495
ENSG00000158856ENST00000520174E5RFK4
ENSG00000158856ENST00000522148E5RFK6
ENSG00000158856ENST00000522340A0A087WT94
ENSG00000158856ENST00000523266Q08495
ENSG00000158856ENST00000523300E5RJC0
ENSG00000158856ENST00000523623E5RGQ7
ENSG00000158856ENST00000523782Q08495

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229274332012Identification of a novel role for dematin in regulating red cell membrane function by modulating spectrin-actin interaction.16
146606642004The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site.11
166974082006Identification of the PXW sequence as a structural gatekeeper of the headpiece C-terminal subdomain fold.9
192413722009Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain.8
190309972009Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain.2
203969302010Comparison of fast backbone dynamics at amide nitrogen and carbonyl sites in dematin headpiece C-terminal domain and its S74E mutant.2
230604522012Headpiece domain of dematin regulates calcium mobilization and signaling in platelets.1
233554712013The allosteric mechanism induced by protein kinase A (PKA) phosphorylation of dematin (band 4.9).0

Citation

Dessen P

DMTN (dematin actin binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/40460/dmtn-(dematin-actin-binding-protein)