RBCC Red Blood Cell Collection

41_HUMAN

Source: hRBCD ; ID: IPI00003921
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: EPB41 , E41P
Protein names and data: 41_HUMAN , Protein 4.1; P4.1 , 4.1R; Band 4.1; EPB4.1 Lenght: 864 a.a.
Mass: 97017 Da
fasta formatted sequence
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.
Disease: ( OMIM: 130500 266140 611804 ) Elliptocytosis 1 (EL1) [MIM:611804]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus.

Genetic variants

214 - 214 V -> I (in dbSNP:rs111642750). VAR_009122 111642750

Database cross-references

UniProt: P11171
Ensembl: ENST00000343067
Ensembl: ENST00000347529
Ensembl: ENST00000349460
Ensembl: ENST00000356093
Ensembl: ENST00000373797
Ensembl: ENST00000373798
Ensembl: ENST00000373800
MIM: 130500
MIM: 266140
MIM: 611804
neXtProt: NX_P11171
Antibodypedia: P11171 (may not find the protein thus also not any antibody)
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