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Protein Coding Gene : Ank1 ankyrin 1, erythroid

Primary Identifier  MGI:88024 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  11733
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable several functions, including enzyme binding activity; spectrin binding activity; and transmembrane transporter binding activity. Acts upstream of or within several processes, including erythrocyte development; multicellular organismal-level iron ion homeostasis; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; membrane; and spectrin-associated cytoskeleton. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; retina; and skeletal muscle. Used to study hereditary spherocytosis type 1 and malaria. Human ortholog(s) of this gene implicated in anemia; hereditary spherocytosis; and hereditary spherocytosis type 1. Orthologous to human ANK1 (ankyrin 1).
PHENOTYPE: Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-12782,
  • MGD-MRK-1324,
  • ankyrin 1, erythroid,
  • MGI:3832665,
  • MGD-MRK-1327,
  • pale lethal,
  • nb,
  • pale,
  • Ank-1,
  • normoblastic anemia,
  • Ank1

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Genome

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0 CDSs

0 Exons

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0 Involved In Mutations

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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

14 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

 

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