Version 5.4
Homo sapiens Protein: EPB41L1
Summary
InnateDB Protein IDBP-374230.5
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 ENSP00000388281
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:0008092 cytoskeletal protein binding
Biological Process
GO:0030866 cortical actin cytoskeleton organization
Cellular Component
GO:0005856 cytoskeleton
Protein Structure and Domains
PDB ID
InterPro IPR007477 SAB domain
IPR008379 Band 4.1, C-terminal
PFAM PF04382
PF05902
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt
PhosphoSite PhosphoSite-Q9H4G0
TrEMBL X6RC15
UniProt Splice Variant
Entrez Gene 2036
UniGene Hs.695199
RefSeq
HUGO HGNC:3378
OMIM 602879
CCDS
HPRD 04193
IMGT
EMBL AL035420 AL121895
GenPept

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca