EPB41

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Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Protein EPB41 PDB 1gg3.png
PDB rendering based on 1gg3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols EPB41 ; 4.1R; EL1; HE
External IDs OMIM130500 MGI95401 HomoloGene44324 GeneCards: EPB41 Gene
RNA expression pattern
PBB GE EPB41 207793 s at tn.png
PBB GE EPB41 214530 x at tn.png
PBB GE EPB41 gnf1h06881 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2035 269587
Ensembl ENSG00000159023 ENSMUSG00000028906
UniProt P11171 P48193
RefSeq (mRNA) NM_001166005 NM_001128606
RefSeq (protein) NP_001159477 NP_001122078
Location (UCSC) Chr 1:
29.21 – 29.45 Mb
Chr 4:
131.92 – 132.08 Mb
PubMed search [1] [2]

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 to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.

A schematic diagram representing the relationships between cytoskeletal molecules as relevant to hereditary elliptocytosis.

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).[supplied by OMIM][1]

Interactions[edit]

Band 4.1 has been shown to interact with Nuclear mitotic apparatus protein 1,[2] Tight junction protein 2,[3] EIF3G[4] and CENPJ.[5]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)". 
  2. ^ Mattagajasingh, S N; Huang S C; Hartenstein J S; Snyder M; Marchesi V T; Benz E J (April 1999). "A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein". J. Cell Biol. (UNITED STATES) 145 (1): 29–43. doi:10.1083/jcb.145.1.29. ISSN 0021-9525. PMC 2148212. PMID 10189366. 
  3. ^ Mattagajasingh, S N; Huang S C; Hartenstein J S; Benz E J (September 2000). "Characterization of the interaction between protein 4.1R and ZO-2. A possible link between the tight junction and the actin cytoskeleton". J. Biol. Chem. (UNITED STATES) 275 (39): 30573–85. doi:10.1074/jbc.M004578200. ISSN 0021-9258. PMID 10874042. 
  4. ^ Hou, C L; Tang C j; Roffler S R; Tang T K (July 2000). "Protein 4.1R binding to eIF3-p44 suggests an interaction between the cytoskeletal network and the translation apparatus". Blood (UNITED STATES) 96 (2): 747–53. ISSN 0006-4971. PMID 10887144. 
  5. ^ Hung, L Y; Tang C J; Tang T K (October 2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex". Mol. Cell. Biol. (UNITED STATES) 20 (20): 7813–25. doi:10.1128/MCB.20.20.7813-7825.2000. ISSN 0270-7306. PMC 86375. PMID 11003675. 

Further reading[edit]

External links[edit]