10         20         30         40         50         60
         |          |          |          |          |          |
MTTEKSLVTE AENSQHQQKE EGEEAINSGQ QEPQQEESCQ TAAEGDNWCE QKLKASNGDT - 60
PTHEDLTKNK ERTSESRGLS RLFSSFLKRP KSQVSEEEGK EVESDKEKGE GGQKEIEFGT - 120
SLDEEIILKA PIAAPEPELK TDPSLDLHSL SSAETQPAQE ELREDPDFEI KEGEGLEECS - 180
KIEVKEESPQ SKAETELKAS QKPIRKHRNM HCKVSLLDDT VYECVVEKHA KGQDLLKRVC - 240
EHLNLLEEDY FGLAIWDNAT SKTWLDSAKE IKKQVRGVPW NFTFNVKFYP PDPAQLTEDI - 300
TRYYLCLQLR QDIVAGRLPC SFATLALLGS YTIQSELGDY DPELHGVDYV SDFKLAPNQT - 360
KELEEKVMEL HKSYRSMTPA QADLEFLENA KKLSMYGVDL HKAKDLEGVD IILGVCSSGL - 420
LVYKDKLRIN RFPWPKVLKI SYKRSSFFIK IRPGEQEQYE STIGFKLPSY RAAKKLWKVC - 480
VEHHTFFRLT STDTIPKSKF LALGSKFRYS GRTQAQTRQA SALIDRPAPH FERTASKRAS - 540
RSLDGAAAVD SADRSPRPTS APAITQGQVA EGGVLDASAK KTVVPKAQKE TVKAEVKKED - 600
EPPEQAEPEP TEAWKVEKTH IEVTVPTSNG DQTQKLAEKT EDLIRMRKKK RERLDGENIY - 660
IRHSNLMLED LDKSQEEIKK HHASISELKK NFMESVPEPR PSEWDKRLST HSPFRTLNIN - 720
GQIPTGEGPP LVKTQTVTIS DNANAVKSEI PTKDVPIVHT ETKTITYEAA QTDDNSGDLD - 780
PGVLLTAQTI TSETPSSTTT TQITKTVKGG ISETRIEKRI VITGDADIDH DQVLVQAIKE - 840
AKEQHPDMSV TKVVVHQETE IADE

Function: 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. Recruits DLG1 to membranes.
SUBUNIT: Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with the nuclear mitotic apparatus. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile apparatus and tight junctions. Q9HB71:CACYBP; NbExp=1; IntAct=EBI-1050906, EBI-1047302; P27797:CALR; NbExp=1; IntAct=EBI-1050906, EBI-1049597; O14936:CASK; NbExp=1; IntAct=EBI-1050906, EBI-1215506; P24941:CDK2; NbExp=1; IntAct=EBI-1050906, EBI-375096; P30084:ECHS1; NbExp=1; IntAct=EBI-1050906, EBI-719602; P35579:MYH9; NbExp=1; IntAct=EBI-1050906, EBI-350338; P22234:PAICS; NbExp=1; IntAct=EBI-1050906, EBI-712261; O15067:PFAS; NbExp=1; IntAct=EBI-1050906, EBI-1052653; P37802:TAGLN2; NbExp=1; IntAct=EBI-1050906, EBI-1056740; P26640:VARS; NbExp=1; IntAct=EBI-1050906, EBI-355765;


Subcellular Location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus. Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=P11171-1; Sequence=Displayed; Name=2; IsoId=P11171-2; Sequence=VSP_000470; Name=3; IsoId=P11171-3; Sequence=VSP_000468, VSP_000471; Name=4; Synonyms=Erythroid; IsoId=P11171-4; Sequence=VSP_000468, VSP_000470, VSP_000473; Name=5; Synonyms=Non-erythroid A; IsoId=P11171-5; Sequence=VSP_000469, VSP_000470, VSP_000472; Name=6; Synonyms=Non-erythroid B; IsoId=P11171-6; Sequence=VSP_000468, VSP_000469, VSP_000470, VSP_000472; Name=7; IsoId=P11171-7; Sequence=VSP_000471, VSP_012872, VSP_012873;
PTM: Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein\'s functions.
PTM: Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex.
PTM: O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain.
DISEASE: Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:611804]. EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
DISEASE: Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
SIMILARITY: Contains 1 FERM domain.
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