InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANK3

Summary

InnateDB Protein

IDBP-75200.7

Last Modified

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

Gene Symbol

ANK3

Protein Name

ankyrin 3, node of Ranvier (ankyrin G)

Synonyms

ANKYRIN-G; MRT37;

Species

Homo sapiens

Ensembl Protein

ENSP00000280772

InnateDB Gene

IDBG-75198 (ANK3)

Protein Structure

UniProt Annotation

Function

In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. {ECO:0000250}.Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:21223964}. Cell projection, axon {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000269PubMed:21223964}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Lysosome {ECO:0000250}. Note=In skeletal muscle, localized at costameres and neuromuscular junctions. In macrophages, associated with lysosomes. {ECO:0000250}.Isoform 5: Cytoplasm, cytoskeleton {ECO:0000269PubMed:8666667}. Golgi apparatus {ECO:0000269PubMed:8666667}.

Disease Associations

Note=Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility.Mental retardation, autosomal recessive 37 (MRT37) [MIM:615493]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136). {ECO:0000269PubMed:23390136}.

Tissue Specificity

Expressed in brain, neurons, muscles and other tissues. {ECO:0000269PubMed:21223964, ECO:0000269PubMed:7836469}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0030507	spectrin binding
GO:0030674	protein binding, bridging
GO:0044325	ion channel binding
GO:0045296	cadherin binding

Biological Process

GO:0000281	mitotic cytokinesis
GO:0007009	plasma membrane organization
GO:0007016	cytoskeletal anchoring at plasma membrane
GO:0007165	signal transduction
GO:0007409	axonogenesis
GO:0007411	axon guidance
GO:0007528	neuromuscular junction development
GO:0010628	positive regulation of gene expression
GO:0010650	positive regulation of cell communication by electrical coupling
GO:0010765	positive regulation of sodium ion transport
GO:0019228	neuronal action potential
GO:0034112	positive regulation of homotypic cell-cell adhesion
GO:0043001	Golgi to plasma membrane protein transport
GO:0043266	regulation of potassium ion transport
GO:0045184	establishment of protein localization
GO:0045838	positive regulation of membrane potential
GO:0050808	synapse organization
GO:0071709	membrane assembly
GO:0072659	protein localization to plasma membrane
GO:0072660	maintenance of protein location in plasma membrane
GO:0072661	protein targeting to plasma membrane
GO:0090314	positive regulation of protein targeting to membrane
GO:1900827	positive regulation of membrane depolarization during cardiac muscle cell action potential
GO:2000651	positive regulation of sodium ion transmembrane transporter activity

Cellular Component

GO:0005764	lysosome
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005923	tight junction
GO:0009925	basal plasma membrane
GO:0009986	cell surface
GO:0014704	intercalated disc
GO:0014731	spectrin-associated cytoskeleton
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0016328	lateral plasma membrane
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0030424	axon
GO:0030425	dendrite
GO:0031594	neuromuscular junction
GO:0033268	node of Ranvier
GO:0033270	paranode region of axon
GO:0042383	sarcolemma
GO:0043005	neuron projection
GO:0043034	costamere
GO:0043194	axon initial segment
GO:0045202	synapse
GO:0045211	postsynaptic membrane