InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPB49

Summary

InnateDB Protein

IDBP-480575.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPB49

Protein Name

erythrocyte membrane protein band 4.9 (dematin)

Synonyms

DMT; EPB49;

Species

Homo sapiens

Ensembl Protein

ENSP00000429377

InnateDB Gene

IDBG-10014 (EPB49)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:10565303, ECO:0000269PubMed:11856323, ECO:0000269PubMed:18347014, ECO:0000269PubMed:19241372, ECO:0000269PubMed:22927433, ECO:0000269PubMed:23355471}.

Subcellular Localization

Cytoplasm. Cytoplasm, cytosol. Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton. Cell membrane. Membrane {ECO:0000250}. Endomembrane system. Cell projection {ECO:0000250}. Note=Localized at the spectrin-actin junction of erythrocyte plasma membrane. Localized to intracellular membranes and the cytoskeletal network. Localized at intracellular membrane-bounded organelle compartment in platelets that likely represent the dense tubular network membrane. Detected at the cell membrane and at the parasitophorous vacuol in malaria- infected erythrocytes at late stages of plasmodium berghei or falciparum development.

Disease Associations

Tissue Specificity

Expressed in platelets (at protein level). Expressed in heart, brain, lung, skeletal muscle, and kidney. {ECO:0000269PubMed:23060452}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0030507	spectrin binding
GO:0043621	protein self-association

Biological Process

GO:0006461	protein complex assembly
GO:0007010	cytoskeleton organization
GO:0008360	regulation of cell shape
GO:0010591	regulation of lamellipodium assembly
GO:0010763	positive regulation of fibroblast migration
GO:0010801	negative regulation of peptidyl-threonine phosphorylation
GO:0010812	negative regulation of cell-substrate adhesion
GO:0030036	actin cytoskeleton organization
GO:0030194	positive regulation of blood coagulation
GO:0032956	regulation of actin cytoskeleton organization
GO:0033137	negative regulation of peptidyl-serine phosphorylation
GO:0035584	calcium-mediated signaling using intracellular calcium source
GO:0035585	calcium-mediated signaling using extracellular calcium source
GO:0048821	erythrocyte development
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation
GO:0051017	actin filament bundle assembly
GO:0051489	regulation of filopodium assembly
GO:0051693	actin filament capping
GO:0051895	negative regulation of focal adhesion assembly
GO:0070560	protein secretion by platelet
GO:0071277	cellular response to calcium ion
GO:0071320	cellular response to cAMP
GO:0090303	positive regulation of wound healing
GO:0090315	negative regulation of protein targeting to membrane
GO:0090527	actin filament reorganization
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading
GO:1901731	positive regulation of platelet aggregation
GO:2001046	positive regulation of integrin-mediated signaling pathway

Cellular Component

GO:0005829	cytosol
GO:0005884	actin filament
GO:0005886	plasma membrane
GO:0012505	endomembrane system
GO:0014731	spectrin-associated cytoskeleton
GO:0015629	actin cytoskeleton
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0031095	platelet dense tubular network membrane
GO:0031253	cell projection membrane
GO:0048471	perinuclear region of cytoplasm