Tbio ANK1 Ankyrin-1

Protein Summary

Description

Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. 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]

Uniprot Accession IDs

• P16157
• A0PJN8
• A6NJ23
• E5RFL7
• O43400
• Q13768
• Q53ER1
• Q59FP2
• Q8N604
• Q99407
• ANK-1

Gene Name

• ANK1

Ensembl ID

• ENST00000265709
• ENSP00000265709
• ENSG00000029534
• ENST00000289734
• ENSP00000289734
• ENST00000314214
• ENSP00000319123
• ENST00000347528
• ENSP00000339620
• ENST00000348036
• ENSP00000297744
• ENST00000522543
• ENSP00000430368

Symbol

• ANK
• ANK
• SPH1
• SPH2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	1
trait	1
disease perturbation	0.93
transcription factor perturbation	0.88
disease	0.81

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 428.76   (req: < 5)

Gene RIFs: 60   (req: <= 3)

Antibodies: 363   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 428.76   (req: >= 5)

Gene RIFs: 60   (req: > 3)

Antibodies: 363   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0