ANK1

Ankyrin 1, erythrocytic
250px PDB rendering based on 1n11.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1N11, 2YQF, 2YVI, 3F59, 3KBT, 3KBU, 3UD1, 3UD2
Identifiers
Symbols	ANK1 ; ANK; SPH1; SPH2
External IDs	OMIM: 612641 MGI: 88024 HomoloGene: 55427 GeneCards: ANK1 Gene
Gene ontology Molecular function • structural molecule activity • structural constituent of cytoskeleton • protein binding • cytoskeletal adaptor activity • enzyme binding • spectrin binding • ATPase binding Cellular component • nucleus • cytosol • cytoskeleton • plasma membrane • spectrin-associated cytoskeleton • basolateral plasma membrane • sarcoplasmic reticulum • Z disc • axolemma • M band • sarcolemma • postsynaptic membrane Biological process • exocytosis • ER to Golgi vesicle-mediated transport • cytoskeleton organization • signal transduction • axon guidance • positive regulation of organelle organization • maintenance of epithelial cell apical/basal polarity • protein targeting to plasma membrane Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE ANK1 205389 s at tn.png
File:PBB GE ANK1 205390 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	286	11733
Ensembl	ENSG00000029534	ENSMUSG00000031543
UniProt	P16157	Q02357
RefSeq (mRNA)	NM_000037	NM_001110783
RefSeq (protein)	NP_000028	NP_001104253
Location (UCSC)	Chr 8: 41.65 – 41.9 Mb	Chr 8: 22.97 – 23.15 Mb
PubMed search	[1]	[2]

Ankyrin 1, erythrocytic, also known as ANK1, 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

External links

• ANK1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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