InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANK1

Summary

InnateDB Protein

IDBP-19069.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANK1

Protein Name

ankyrin 1, erythrocytic

Synonyms

ANK; SPH1; SPH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000265709

InnateDB Gene

IDBG-19055 (ANK1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12456646}.Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. {ECO:0000269PubMed:12456646}.

Subcellular Localization

Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.Isoform Mu18: Sarcoplasmic reticulum {ECO:0000305}.Isoform Mu19: Sarcoplasmic reticulum {ECO:0000305}.Isoform Mu20: Sarcoplasmic reticulum {ECO:0000305}.

Disease Associations

Spherocytosis 1 (SPH1) [MIM:182900]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. {ECO:0000269PubMed:11102985, ECO:0000269PubMed:8640229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain. {ECO:0000269PubMed:9430667}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0008093	cytoskeletal adaptor activity
GO:0019899	enzyme binding
GO:0030507	spectrin binding
GO:0051117	ATPase binding

Biological Process

GO:0006779	porphyrin-containing compound biosynthetic process
GO:0006887	exocytosis
GO:0006888	ER to Golgi vesicle-mediated transport
GO:0007010	cytoskeleton organization
GO:0007165	signal transduction
GO:0007411	axon guidance
GO:0010638	positive regulation of organelle organization
GO:0015672	monovalent inorganic cation transport
GO:0045199	maintenance of epithelial cell apical/basal polarity
GO:0048821	erythrocyte development
GO:0072661	protein targeting to plasma membrane

Cellular Component

GO:0005634	nucleus
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0014731	spectrin-associated cytoskeleton
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0030673	axolemma
GO:0030863	cortical cytoskeleton
GO:0031430	M band
GO:0031672	A band
GO:0042383	sarcolemma
GO:0043005	neuron projection
GO:0045211	postsynaptic membrane