Ank1 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ank1 |
| Official Name | ankyrin 1, erythroid [Source:MGI Symbol;Acc:MGI:88024] |
| Ensembl ID | ENSMUSG00000031543 |
| Bio databases IDs | |
| Aliases | ankyrin 1, erythroid |
| Synonyms | ANK, ankyrin-1, ankyrin 1, erythroid, ANKYRIN R, nb, pale, SPH1, SPH2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ank1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Death domain
- Ankyrin repeats (many copies)
- protein phosphatase binding
- Ankyrin repeats (3 copies)
- spectrin binding
- enzyme binding
- protein binding
- zDHHC ankyrin repeat binding domain
- UPA domain
- ZU5 domain
- Ankyrin repeat
- cytoskeletal adaptor
- ATPase binding
- structural constituent of cytoskeleton
- transmembrane domain
- Death Domain Superfamily of protein-protein interaction domains
- ankyrin repeats
Pathways
Biological processes and signaling networks where the Ank1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- non-insulin-dependent diabetes mellitus
- Crohn disease
- heart failure
- neoplasia
- diabetic retinopathy
- Parkinson disease
- spherocytosis type 1
- pervasive developmental disorder
- hypertension
phenotypes
- Purkinje cell degeneration
- abnormal bone marrow morphology
- abnormal calcium ion homeostasis
- abnormal cardiac thrombosis
- abnormal common myeloid progenitor cell morphology
- abnormal diaphragm morphology
- abnormal erythrocyte morphology
- abnormal erythrocyte physiology
- abnormal erythropoiesis
- abnormal extensor digitorum longus morphology
- abnormal glomerular mesangium morphology
- abnormal iron homeostasis
- abnormal kidney iron level
- abnormal leukocyte cell number
- abnormal muscle electrophysiology
- abnormal myelopoiesis
- abnormal sarcolemma morphology
- abnormal sarcoplasmic reticulum morphology
- abnormal skeletal muscle fiber triad morphology
- abnormal skin pigmentation
- abnormal spleen morphology
- abnormal thymus development
- acanthocytosis
- anemia
- anisocytosis
- anisopoikilocytosis
- cardiac hypertrophy
- decreased birth weight
- decreased body size
- decreased body weight
- decreased cellular hemoglobin content
- decreased common myeloid progenitor cell number
- decreased erythrocyte cell number
- decreased fetal weight
- decreased hematocrit
- decreased hemoglobin content
- decreased mean corpuscular hemoglobin
- decreased mean corpuscular hemoglobin concentration
- decreased mean corpuscular volume
- decreased sensitivity to induced morbidity/mortality
- decreased spleen iron level
- decreased susceptibility to parasitic infection
- decreased susceptibility to parasitic infection induced morbidity/mortality
- enlarged heart
- enlarged liver
- enlarged lymph nodes
- enlarged spleen
- erythroblastosis
- extramedullary hematopoiesis
- gallstones
- glomerulonephritis
- hemolysis
- hemolytic anemia
- hemosiderosis
- hyperchromasia
- hypochromic anemia
- impaired balance
- impaired exercise endurance
- impaired skeletal muscle contractility
- increased blood urea nitrogen level
- increased circulating alanine transaminase level
- increased circulating aspartate transaminase level
- increased circulating bilirubin level
- increased circulating erythropoietin level
- increased erythrocyte cell number
- increased erythrocyte clearance
- increased erythrocyte osmotic fragility
- increased erythrocyte protoporphyrin level
- increased erythroid progenitor cell number
- increased heart weight
- increased hemoglobin concentration distribution width
- increased kidney iron level
- increased kidney weight
- increased leukocyte cell number
- increased liver iron level
- increased lymphocyte cell number
- increased neutrophil cell number
- increased nucleated erythrocyte cell number
- increased spleen iron level
- increased spleen weight
- increased susceptibility to bacterial infection
- increased susceptibility to bacterial infection induced morbidity/mortality
- infertility
- jaundice
- liver abscess
- low mean erythrocyte cell number
- microcytic anemia
- microcytosis
- myopathy
- neonatal lethality incomplete penetrance
- pallor
- perinatal lethality incomplete penetrance
- poikilocytosis
- polychromatophilia
- polycythemia
- postnatal growth retardation
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality incomplete penetrance
- preweaning lethality complete penetrance
- preweaning lethality incomplete penetrance
- reticulocytosis
- schistocytosis
- skeletal muscle fiber degeneration
- spherocytosis
- stomatocytosis
- thrombocytosis
- tremors
role in cell
- production in
- spare respiratory capacity
- stabilization
- docetaxel resistance
- budding
- polarity
- organization
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cortical cytoskeleton
- cytoskeleton
- Cytoplasm
- cellular membrane
- membrane skeleton
- Nucleus
- sarcoplasmic reticulum
- sarcomere
- cytosol
- cytoplasmic face of plasma membrane
- postsynaptic membrane
- Golgi membrane
- nuclear scaffolds
- axonal membrane
- m-bands
- sarcolemma
- myoplasm
- Z line
- erythrocyte membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ank1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- cytoskeleton organization
- maintenance of epithelial cell apical/basal polarity
- signal transduction
- positive regulation of organelle organization
- exocytosis
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- sarcoplasmic reticulum
- neuron projection
- plasma membrane
- internal side of plasma membrane
- Z disc
- cytoskeleton
- postsynaptic membrane
- sarcolemma
- cytosol
- axolemma
- M band
- basolateral plasma membrane
- spectrin-associated cytoskeleton
Molecular Function
What the gene product does at the molecular level
- protein phosphatase binding
- cytoskeletal adaptor activity
- protein binding
- spectrin binding
- structural molecule activity
- structural constituent of cytoskeleton
- ion channel binding
- enzyme binding
- ATPase binding