InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPB41

Summary

InnateDB Protein

IDBP-95320.6

Last Modified

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

Gene Symbol

EPB41

Protein Name

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

Synonyms

4.1R; EL1; HE;

Species

Homo sapiens

Ensembl Protein

ENSP00000345259

InnateDB Gene

IDBG-95304 (EPB41)

Protein Structure

UniProt Annotation

Function

Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:12427749}. Cytoplasm, cell cortex {ECO:0000269PubMed:12427749}. Nucleus {ECO:0000269PubMed:12427749}.

Disease Associations

Elliptocytosis 1 (EL1) [MIM:611804]: A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [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:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005545	1-phosphatidylinositol binding
GO:0008092	cytoskeletal protein binding
GO:0030507	spectrin binding

Biological Process

GO:0008015	blood circulation
GO:0030036	actin cytoskeleton organization
GO:0030866	cortical actin cytoskeleton organization
GO:0032092	positive regulation of protein binding

Cellular Component

GO:0005634	nucleus
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0008091	spectrin
GO:0014731	spectrin-associated cytoskeleton
GO:0016020	membrane
GO:0019898	extrinsic component of membrane
GO:0030863	cortical cytoskeleton
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR000299 FERM domain
IPR000798 Ezrin/radixin/moesin like
IPR007477 SAB domain
IPR008379 Band 4.1, C-terminal
IPR014847 FERM adjacent (FA)
IPR018979 FERM, N-terminal
IPR018980 FERM, C-terminal PH-like domain
IPR019748 FERM central domain
IPR019749 Band 4.1 domain
IPR019750 Band 4.1 family
IPR021187 Band 4.1 protein
IPR029071 Ubiquitin-related domain

PFAM

PF04382
PF05902
PF08736
PF09379
PF09380
PF00373

PRINTS

PR00661
PR00935

PIRSF

PIRSF002304

SMART

SM00295

TIGRFAMs

Post-translational Modifications

Modification

Cross-References