band 4.1-like protein 1; neuronal protein 4.1; 4.1N (EPB41L1, KIAA0338)

Function

• may function to confer stability & plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels & membrane-associated guanylate kinases
• interacts with AGAP2

Structure

contains 1 FERM domain

Compartment

cytoplasm, cytoskeleton

Alternative splicing

named isoforms=4

Expression

• expressed in brain > heart, kidney, pancreas, placenta, lung & skeletal muscle

Pathology

• defects in EPB41L1 are the cause of mental retardation autosomal dominant type 11

More general terms

• band 4.1-like protein (EPB41L)
• phosphoprotein

Additional terms

• protein 4.1; Band 4.1; P4.1; EPB4.1; 4.1R (EPB41 E41P)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2036
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2036
• OMIM: https://mirror.omim.org/entry/602879
• OMIM: https://mirror.omim.org/entry/614257
• UniProt: http://www.uniprot.org/uniprot/Q9H4G0.html