| Connectivity | 89 |
|---|---|
| Notes | 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] |
| Hugo ID | 3377 |
| Name | EPB41 |
| Description | erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) |
| URN | urn:agi-llid:2035 |
| GO Cellular Component | actin cytoskeleton |
|---|---|
| cytoplasm | |
| cytoskeleton | |
| membrane | |
| nucleus | |
| plasma membrane | |
| spectrin |
| Cell Localization | Plasma membrane |
|---|---|
| Cytoplasm |
| GO Biological Process | actin cytoskeleton organization and biogenesis |
|---|---|
| cortical actin cytoskeleton organization and biogenesis | |
| regulation of cell shape | |
| circulation |
| Microarray ID | 160379_at |
|---|---|
| 96851_at | |
| 1424092_at | |
| Msa.383.0_at | |
| Msa.383.0_g_at | |
| 1430369_at | |
| A_51_P506402 | |
| L00919 | |
| A_65_P01397 | |
| H3156D09-3 | |
| 214530_x_at | |
| 34581_s_at | |
| 32343_at | |
| 207793_s_at | |
| M61733_at | |
| A_23_P160359 | |
| I_929013 |
| State | isoform 3 |
|---|---|
| isoform 2 | |
| isoform 1 |
| MGI ID | 95401 |
|---|
| GO Molecular Function | actin binding |
|---|---|
| structural molecule activity | |
| spectrin binding | |
| structural constituent of cytoskeleton |
| GO ID | GO:0003779 |
|---|---|
| GO:0005198 | |
| GO:0030507 | |
| GO:0008360 | |
| GO:0030036 | |
| GO:0005856 | |
| GO:0015629 | |
| GO:0005200 | |
| GO:0008015 | |
| GO:0008091 | |
| GO:0005886 |
| Swiss-Prot Accession | P11171 |
|---|
| Keyword | glycophorin |
|---|
| OMIM ID | OMIM:130500 |
|---|
| Alias | D4Ertd442e |
|---|---|
| Doi 442 | |
| DNA segment, Chr 4, ERATO Doi 442, expressed | |
| AI415518 | |
| expressed sequence AI415518 | |
| Epb4.1 | |
| 4.1R | |
| Elp1 | |
| Elp-1 | |
| erythrocyte protein band 4.1 | |
| EL1 | |
| 41 | |
| erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) | |
| erythrocyte surface protein band 4.1 | |
| 41_HUMAN | |
| Protein 4.1 (Band 4.1) (P4.1) (EPB4.1) (4.1R) | |
| Band 4.1 | |
| E41P | |
| EPB41 | |
| hypothetical gene supported by AK044726 | |
| hypothetical protein LOC149149 | |
| P4.1 | |
| similar to Protein 4.1 (Band 4.1) (P4.1) (4.1R) | |
| erythrocyte band 4 | |
| Erythrocyte surface band 4 | |
| Protein 4.1 | |
| EL I |
| Organism | Mus musculus |
|---|---|
| Human |
| LocusLink ID | 13820 |
|---|---|
| 52373 | |
| 100103 | |
| 104430 | |
| 269587 | |
| 329952 | |
| 2035 | |
| 149149 |
| Source | ResNet |
|---|
| Pathway | path |
|---|---|
| path2 | |
| path1 | |
| path3 | |
| path4 | |
| path5 | |
| path6 | |
| path7 | |
| Copy of 'path8' | |
| path8 | |
| pathfeb |
| Unigene ID | Mm.202697 |
|---|---|
| Hs.528333 | |
| Mm.30038 | |
| Hs.458444 |
| Group | protein binding |
|---|---|
| structural constituent of cytoskeleton |