Protein 4.1

EPB41
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1GG3, 2RQ1, 3QIJ
Identifiers
Aliases	EPB41, erythrocyte membrane protein band 4.1, 4.1R, EL1, HE
External IDs	OMIM: 130500; MGI: 95401; HomoloGene: 44324; GeneCards: EPB41; OMA:EPB41 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p35.3 Start 28,887,091 bp[1] End 29,120,046 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.3|4 64.54 cM Start 131,923,413 bp[2] End 132,075,321 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone cerebellar hemisphere right hemisphere of cerebellum epithelium of colon tonsil blood amniotic fluid epithelium of nasopharynx monocyte bone marrow Top expressed in blood neural layer of retina genital tubercle tail of embryo tibiofemoral joint fetal liver hematopoietic progenitor cell zygote ventricular zone cerebellar cortex lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding structural molecule activity calmodulin binding cytoskeletal protein binding 1-phosphatidylinositol binding structural constituent of cytoskeleton protein binding actin binding protein C-terminus binding protein N-terminus binding phosphoprotein binding Cellular component membrane cortical cytoskeleton cell junction cell cortex spectrin-associated cytoskeleton cytoskeleton nucleus cytoplasm cytosol cytoplasmic side of plasma membrane postsynaptic density plasma membrane cell cortex region protein-containing complex basolateral plasma membrane Biological process positive regulation of protein binding cortical actin cytoskeleton organization actin cytoskeleton organization actomyosin structure organization regulation of cell shape positive regulation of protein localization to cell cortex cell cycle cell division protein-containing complex assembly regulation of calcium ion transport regulation of intestinal absorption Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2035 269587 Ensembl ENSG00000159023 ENSMUSG00000028906 UniProt P11171 P48193 RefSeq (mRNA) NM_001166005 NM_001166006 NM_001166007 NM_004437 NM_203342 NM_203343 NM_001376013 NM_001376014 NM_001376015 NM_001376016 NM_001376017 NM_001376018 NM_001376019 NM_001376020 NM_001376021 NM_001376022 NM_001376023 NM_001376024 NM_001376025 NM_001376026 NM_001376027 NM_001376028 NM_001128606 NM_001128607 NM_183428 RefSeq (protein) NP_001159477 NP_001159478 NP_001159479 NP_004428 NP_976217 NP_976218 NP_001362942 NP_001362943 NP_001362944 NP_001362945 NP_001362946 NP_001362947 NP_001362948 NP_001362949 NP_001362950 NP_001362951 NP_001362952 NP_001362953 NP_001362954 NP_001362955 NP_001362956 NP_001362957 NP_001122078 NP_001122079 NP_906273 Location (UCSC) Chr 1: 28.89 – 29.12 Mb Chr 4: 131.92 – 132.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein 4.1, (Erythrocyte membrane protein band 4.1), is a protein associated with the cytoskeleton that in humans is encoded by the EPB41 gene. 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. Protein 4.1 (80 kD) interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.