InnateDB Protein
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IDBP-10018.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EPB49
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Protein Name
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erythrocyte membrane protein band 4.9 (dematin)
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Synonyms
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DMT; EPB49;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000370879
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InnateDB Gene
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IDBG-10014 (EPB49)
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Protein Structure
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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}.
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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.
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Disease Associations |
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Tissue Specificity |
Expressed in platelets (at protein level). Expressed in heart, brain, lung, skeletal muscle, and kidney. {ECO:0000269PubMed:23060452}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0006461
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protein complex assembly
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GO:0007010
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cytoskeleton organization
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GO:0008360
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regulation of cell shape
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GO:0010591
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regulation of lamellipodium assembly
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GO:0010763
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positive regulation of fibroblast migration
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GO:0010801
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negative regulation of peptidyl-threonine phosphorylation
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GO:0010812
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negative regulation of cell-substrate adhesion
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GO:0030036
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actin cytoskeleton organization
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GO:0030194
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positive regulation of blood coagulation
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GO:0032956
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regulation of actin cytoskeleton organization
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GO:0033137
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negative regulation of peptidyl-serine phosphorylation
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GO:0035584
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calcium-mediated signaling using intracellular calcium source
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GO:0035585
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calcium-mediated signaling using extracellular calcium source
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GO:0048821
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erythrocyte development
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GO:0050732
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negative regulation of peptidyl-tyrosine phosphorylation
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GO:0051017
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actin filament bundle assembly
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GO:0051489
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regulation of filopodium assembly
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GO:0051693
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actin filament capping
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GO:0051895
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negative regulation of focal adhesion assembly
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GO:0070560
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protein secretion by platelet
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GO:0071277
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cellular response to calcium ion
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GO:0071320
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cellular response to cAMP
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GO:0090303
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positive regulation of wound healing
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GO:0090315
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negative regulation of protein targeting to membrane
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GO:0090527
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actin filament reorganization
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GO:1900025
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negative regulation of substrate adhesion-dependent cell spreading
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GO:1900026
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positive regulation of substrate adhesion-dependent cell spreading
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GO:1901731
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positive regulation of platelet aggregation
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GO:2001046
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positive regulation of integrin-mediated signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR003128
Villin headpiece
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PFAM |
PF02209
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PRINTS |
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PIRSF |
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SMART |
SM00153
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TIGRFAMs |
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Modification |
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SwissProt |
Q08495
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PhosphoSite |
PhosphoSite-Q08495
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TrEMBL |
E5RJ61
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UniProt Splice Variant |
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Entrez Gene |
2039
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UniGene |
Hs.595894
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RefSeq |
NP_001107609
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HUGO |
HGNC:3382
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OMIM |
125305
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CCDS |
CCDS47820
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HPRD |
00506
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IMGT |
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EMBL |
AC091171
AK055842
AK091581
AK289650
BC006318
BC017445
BC052805
BT007396
L19713
U28389
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GenPept |
AAA58438
AAC50223
AAH06318
AAH17445
AAH52805
AAP36060
BAF82339
BAG51582
BAG52385
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