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DMTN (NM_001114139) - dematin actin binding protein

Dematin Isoform 3

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of DMTN protein. View all 8 isoforms
DMTN: dematin isoform 3
Description:

The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014].

Strand
+
Chromosome
8
Protein
358 residues
All mutations
66
PTM sites
29
CDS
21,924,386 - 21,938,974
Transcription
21,912,327 - 21,940,038
60.61% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2039
UniProt
Ensembl