Protein 4.1, also known as Beatty's Protein, 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
Microfilaments, also called actin filaments, are protein filaments in the cytoplasm of eukaryotic cells that form part of the cytoskeleton. They are primarily composed of polymers of actin, but are modified by and interact with numerous other pr ...
to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with
elliptocytosis or
spherocytosis and
anemia of varying severity.
Clinical significance
Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-
spectrin gene (MIM 182860), the beta-
spectrin gene (MIM 182870), or the
band 3 gene (MIM 109270)
upplied by OMIM
Interactions
Band 4.1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
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CENPJ
Centromere protein J is a protein that in humans is encoded by the ''CENPJ'' gene. It is also known as centrosomal P4.1-associated protein (CPAP). During cell division, this protein plays a structural role in the maintenance of centrosome integrit ...
,
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EIF3G
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NUMA1
Nuclear mitotic apparatus protein 1 is a protein that in humans is encoded by the ''NUMA1'' gene.
Interactions
Nuclear mitotic apparatus protein 1 has been shown to interact with PIM1, Band 4.1, GPSM2 and EPB41L1
Band 4.1-like protein 1 is a pro ...
,
and
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TJP2
Tight junction protein ZO-2 is a protein that in humans is encoded by the ''TJP2'' gene.
Tight junction proteins (TJPs) belong to a family of membrane-associated guanylate kinase (MAGUK) homologs that are involved in the organization of epitheli ...
.
See also
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Elliptocytosis
References
Further reading
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External links
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{{biochemistry-stub