ANK1

Name

ankyrin 1

Type

protein-coding

Aliases

ANK, SPH1, SPH2, ankyrin-1

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin 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 binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008].

via MyGene.info

Gene · Ensembl

ankyrin 1

Symbol

ANK1

Biotype

Protein coding

Organism

Homo sapiens

Location

8:41,653,220-41,896,812

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Image

Protein ANK1 PDB 1n11.png

via Wikidata · CC0