Ankyrin-1

ANK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1N11, 2YQF, 2YVI, 3F59, 3KBT, 3KBU, 3UD1, 3UD2
Identifiers
Aliases	ANK1, ANK, SPH1, SPH2, ankyrin 1
External IDs	OMIM: 612641 MGI: 88024 HomoloGene: 55427 GeneCards: ANK1
Gene location (Human) Chr. Chromosome 8 (human) Band 8p11.21 Start 41,653,220 bp End 41,896,762 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 A2|8 11.42 cM Start 23,464,860 bp End 23,640,513 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in triceps brachii muscle body of tongue biceps brachii thoracic diaphragm gastrocnemius muscle cancellous bone vastus lateralis muscle left ventricle cerebellar hemisphere deltoid muscle Top expressed in inferior colliculus triceps brachii muscle vastus lateralis muscle pontine nuclei cerebellar vermis sternocleidomastoid muscle skeletal muscle tissue right ventricle knee joint medulla oblongata More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding ATPase binding structural molecule activity structural constituent of cytoskeleton protein binding enzyme binding cytoskeletal anchor activity Cellular component M band cytosol postsynaptic membrane membrane plasma membrane sarcoplasmic reticulum basolateral plasma membrane Z disc axolemma spectrin-associated cytoskeleton neuron projection sarcolemma A band cytoskeleton nucleus cytoplasm Biological process positive regulation of organelle organization endoplasmic reticulum to Golgi vesicle-mediated transport maintenance of epithelial cell apical/basal polarity cytoskeleton organization signal transduction exocytosis protein localization to plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 286 11733 Ensembl ENSG00000029534 ENSMUSG00000031543 UniProt P16157 Q02357 RefSeq (mRNA) NM_000037 NM_001142445 NM_001142446 NM_020475 NM_020476 NM_020477 NM_020478 NM_020479 NM_020480 NM_020481 NM_001110783 NM_001277280 NM_001277281 NM_001277284 NM_001277286 NM_001277289 NM_031158 NM_001310436 NM_001310437 RefSeq (protein) NP_000028 NP_001135917 NP_001135918 NP_065208 NP_065209 NP_065210 NP_065211 NP_065213 NP_001104253 NP_001264209 NP_001264210 NP_001264213 NP_001264215 NP_001264218 NP_001297365 NP_001297366 NP_112435 Location (UCSC) Chr 8: 41.65 – 41.9 Mb Chr 8: 23.46 – 23.64 Mb PubMed search
Wikidata
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Ankyrin 1, also known as ANK-1, and erythrocyte ankyrin, is a protein that in humans is encoded by the ANK1 gene.

Tissue distribution

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

ANK1 shows altered methylation and expression in Alzheimer's disease. A gene expression study of postmortem brains has suggested ANK1 interacts with interferon-γ signalling.

Function

The ANK1 protein belongs to the ankyrin family that are believed to 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 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.

The small ANK1 (sAnk1) protein splice variants makes contacts with obscurin, a giant protein surrounding the contractile apparatus in striated muscle.

Interactions

ANK1 has been shown to interact with T-cell lymphoma invasion and metastasis-inducing protein 1,Titin,RHAG and OBSCN.

See also

• Ankyrin

Further reading

External links

• ANK1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ANK1 genome location and ANK1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.