InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPB41L1

Summary

InnateDB Protein

IDBP-72109.6

Last Modified

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

Gene Symbol

EPB41L1

Protein Name

erythrocyte membrane protein band 4.1-like 1

Synonyms

4.1N; MRD11;

Species

Homo sapiens

Ensembl Protein

ENSP00000337168

InnateDB Gene

IDBG-72099 (EPB41L1)

Protein Structure

UniProt Annotation

Function

May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	43 [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:0005515	protein binding
GO:0008092	cytoskeletal protein binding

Biological Process

GO:0007268	synaptic transmission
GO:0030866	cortical actin cytoskeleton organization

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0019898	extrinsic component of membrane

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