Tbio DMTN Dematin

Protein Summary

Description

Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation. 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]

Uniprot Accession IDs

• Q08495
• A8K0T5
• B3KP70
• B3KRH3
• B4DI75
• E9PEJ0
• Q13215
• Q9BRE3

Gene Name

• DMTN

Ensembl ID

• ENST00000265800
• ENSP00000265800
• ENSG00000158856
• ENST00000358242
• ENSP00000350977
• ENST00000381470
• ENSP00000370879
• ENST00000415253
• ENSP00000401291
• ENST00000432128
• ENSP00000416111
• ENST00000443491
• ENSP00000397904
• ENST00000517305
• ENSP00000430609
• ENST00000517600
• ENSP00000430618
• ENST00000519907
• ENSP00000429377
• ENST00000523266
• ENSP00000427866
• ENST00000523782
• ENSP00000429234

Symbol

• DMT
• EPB49
• DMT
• EPB49

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
transcription factor	0.79
PubMedID	0.77
small molecule perturbation	0.77
hub protein	0.71

Protein Classes

PANTHER Classes

Protein / Structural Protein / Dematin

Protein / Cytoskeletal Protein / Actin Family Cytoskeletal Protein / Dematin

DTO Classes

Protein / Cellular Structure / Actin Family Cytoskeletal Protein / Dematin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 266.01   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 208   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 266.01   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 36

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0