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Protein Coding Gene : Epb41 erythrocyte membrane protein band 4.1

Primary Identifier  MGI:95401 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  269587
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable 1-phosphatidylinositol binding activity; cytoskeletal protein binding activity; and phosphoprotein binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in regulation of calcium ion transport and regulation of intestinal absorption. Located in basolateral plasma membrane and cortical cytoskeleton. Is expressed in several structures, including alimentary system; brain; connective tissue; eye; and genitourinary system. Used to study hereditary elliptocytosis. Orthologous to human EPB41 (erythrocyte membrane protein band 4.1).
PHENOTYPE: Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-9360,
  • Elp1,
  • Elp-1,
  • elliptocytosis 1,
  • DNA segment, Chr 4, ERATO Doi 442, expressed,
  • 4.1R,
  • expressed sequence AI415518,
  • AI415518,
  • MGI:2140261,
  • Epb41,
  • MGD-MRK-9359,
  • erythrocyte membrane protein band 4.1,
  • erythrocyte protein band 4.1,
  • Epb4.1,
  • MGD-MRK-9558,
  • MGI:1261921,
  • D4Ertd442e

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For