ANK1

 Ankyrin 1, erythrocytic, also known as ANK1, is a protein that in humans is encoded by the ANK1 gene.^[5][6]

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)[1] Band 8p11.21 Start 41,653,220 bp[1] End 41,896,762 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A2|8 11.42 cM Start 22,974,844 bp[2] End 23,150,497 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • spectrin binding • ATPase binding • structural molecule activity • structural constituent of cytoskeleton • GO:0001948 protein binding • enzyme binding • cytoskeletal adaptor activity Cellular component • M band • cytosol • postsynaptic membrane • membrane • cell membrane • sarcoplasmic reticulum • basolateral plasma membrane • Z disc • axolemma • spectrin-associated cytoskeleton • neuron projection • sarcolemma • A band • cytoskeleton • cell nucleus • cytoplasm Biological process • positive regulation of organelle organization • ER 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: 22.97 – 23.15 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Tissue distributionEdit

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.^[6]

GeneticsEdit

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.^[6]

Disease linkageEdit

Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis.^[6]

ANK1 shows altered methylation and expression in Alzheimer's disease.^[7][8] A gene expression study of postmortem brains has suggested ANK1 interacts with interferon-γ signalling.^[9]

FunctionEdit

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.^[6]

The small ANK1 (sAnk1) protein splice variants makes contacts with obscurin, a giant protein surrounding the contractile apparatus in striated muscle.^[10]

InteractionsEdit

ANK1 has been shown to interact with T-cell lymphoma invasion and metastasis-inducing protein 1,^[11] Titin,^[12] RHAG^[13] and OBSCN.^[14]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.