Homo sapiens Protein: EPB41 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-95314.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | EPB41 | ||||||||||||||||||||||
Protein Name | erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) | ||||||||||||||||||||||
Synonyms | 4.1R; EL1; HE; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000362906 | ||||||||||||||||||||||
InnateDB Gene | IDBG-95304 (EPB41) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton {ECO:0000269PubMed:12427749}. Cytoplasm, cell cortex {ECO:0000269PubMed:12427749}. Nucleus {ECO:0000269PubMed:12427749}. | ||||||||||||||||||||||
Disease Associations | 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. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000299
FERM domain IPR000798 Ezrin/radixin/moesin like IPR007477 SAB domain IPR008379 Band 4.1, C-terminal IPR014847 FERM adjacent (FA) IPR018979 FERM, N-terminal IPR018980 FERM, C-terminal PH-like domain IPR019748 FERM central domain IPR019749 Band 4.1 domain IPR019750 Band 4.1 family IPR021187 Band 4.1 protein IPR029071 Ubiquitin-related domain |
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PFAM |
PF04382
PF05902 PF08736 PF09379 PF09380 PF00373 |
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PRINTS |
PR00661
PR00935 |
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PIRSF |
PIRSF002304
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SMART |
SM00295
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P11171 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P11171 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2035 | ||||||||||||||||||||||
UniGene | Hs.175437 | ||||||||||||||||||||||
RefSeq | NP_004428 | ||||||||||||||||||||||
HUGO | HGNC:3377 | ||||||||||||||||||||||
OMIM | 130500 | ||||||||||||||||||||||
CCDS | CCDS331 | ||||||||||||||||||||||
HPRD | 00558 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF156225 AF156226 AL138785 AL357500 BC039079 CH471059 J03796 M14993 M61733 | ||||||||||||||||||||||
GenPept | AAA35793 AAA35794 AAA35795 AAA35797 AAD42222 AAD42223 AAH39079 CAH71636 CAH71637 CAH71638 CAH71639 CAI21966 CAI21967 CAI21968 CAI21969 CAI21970 EAX07663 EAX07665 EAX07667 EAX07668 | ||||||||||||||||||||||