Ankyrin 1, erythrocytic, also known as ANK1, is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 which in humans is encoded by the ANK1 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Tissue distribution

The protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 encoded by this gene, Ankyrin 1, is the prototype of the ankyrin

Ankyrin

Ankyrins are a family of adaptor proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane skeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins...

 family, was first discovered in erythrocytes, but since has also been found in brain and muscles.

Genetics

Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described, however, the precise functions of the various isoforms are not known. Alternative polyadenylation accounting for the different sized erythrocytic ankyrin 1 mRNAs, has also been reported. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified.

Disease linkage

Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis

Spherocytosis

Spherocytosis is an auto-hemolytic anemia characterized by the production of red blood cells , or erythrocytes, that are sphere-shaped, rather than bi-concave disk shaped. Spherocytes are found in hereditary spherocytosis and autoimmune hemolytic anemia.It almost always refers to hereditary...

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Function

The ANK1 protein belongs to the ankyrin

Ankyrin

Ankyrins are a family of adaptor proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane skeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins...

 family that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton

Cytoskeleton

The cytoskeleton is a cellular "scaffolding" or "skeleton" contained within a cell's cytoplasm and is made out of protein. The cytoskeleton is present in all cells; it was once thought to be unique to eukaryotes, but recent research has identified the prokaryotic cytoskeleton...

 and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin

Spectrin

Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane of many cell types in pentagonal or hexagonal arrangements, forming a scaffolding and playing an important role in maintenance of plasma membrane integrity and cytoskeletal structure...

 binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation.

The small ANK1 (sAnk1) protein splice variants makes contacts with obscurin

OBSCN

Obscurin is a protein that in humans is encoded by the OBSCN gene.-Interactions:OBSCN has been shown to interact with Titin and ANK1.-Further reading:...

, a giant protein surrounding the contractile apparatus in striated muscle

Striated muscle

Striated muscle tissue is a form of fibers that are combined into parallel fibers. More specifically, it can refer to:* Cardiac muscle .* Skeletal muscle* Branchiomeric muscles...

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Interactions

ANK1 has been shown to interact

Protein-protein interaction

Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...

 with T-cell lymphoma invasion and metastasis-inducing protein 1

T-cell lymphoma invasion and metastasis-inducing protein 1

T-cell lymphoma invasion and metastasis-inducing protein 1 is a protein that in humans is encoded by the TIAM1 gene.- Structure :TIAM1 is tightly associate with BAIAP2 as a subunit...

, Titin

Titin

Titin , also known as connectin, is a protein that in humans is encoded by the TTN gene. Titin is a giant protein that functions as a molecular spring which is responsible for the passive elasticity of muscle. It is composed of 244 individually folded protein domains connected by unstructured...

, RHAG

RHAG

Rh-associated glycoprotein is an ammonia transporter protein that in humans is encoded by the RHAG gene. RHAG has also recently been designated CD241 . Mutations in the RHAG gene can cause stomatocytosis....

 and OBSCN

OBSCN

Obscurin is a protein that in humans is encoded by the OBSCN gene.-Interactions:OBSCN has been shown to interact with Titin and ANK1.-Further reading:...

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Further reading

External links