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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
Related
protein 4.1; Band 4.1; P4.1; EPB4.1; 4.1R (EPB41 E41P)
General
band 4.1-like protein (EPB41L)
phosphoprotein
Properties
SIZE: entity length = 881 aa
MW = 99 kD
COMPARTMENT: cytoplasm
MOTIF: Ser phosphorylation site {S75}
Thr phosphorylation site {T79}
FERM domain
NAME: FERM domain
SITE: 97-378
MOTIF: Tyr phosphorylation site {Y343}
Ser phosphorylation site {S378}
Ser phosphorylation site {S430}
Ser phosphorylation site {S437}
Ser phosphorylation site {S441}
Ser phosphorylation site {S466}
Thr phosphorylation site {T475}
actin-binding site
SITE: 483-541
FOR-BINDING-OF: F-actin
MOTIF: Ser phosphorylation site {S510}
Ser phosphorylation site {S540}
Ser phosphorylation site {S541}
Ser phosphorylation site {S544}
Ser phosphorylation site {S546}
Thr phosphorylation site {T550}
Ser phosphorylation site {S564}
Ser phosphorylation site {S578}
Ser phosphorylation site {S639}
Ser phosphorylation site {S648}
Ser phosphorylation site {S650}
Ser phosphorylation site {S678}
Thr phosphorylation site {T686}
Ser phosphorylation site {S722}
Thr phosphorylation site {T727}
C-terminal (CTD) {746-881}
MOTIF: Ser phosphorylation site {S784}
Thr phosphorylation site {T867}
Ser phosphorylation site {S870}
Ser phosphorylation site {S881}
Database Correlations
OMIM correlations
UniProt Q9H4G0
PFAM correlations
Entrez Gene 2036
Kegg hsa:2036
References
UniProt :accession Q9H4G0