Recombinant Human Ankyrin-3 (ANK3), partial

Function

May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin

Subcellular Location

Cytoplasm, cytoskeleton; Golgi apparatus

Disease Association

[Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility] | Intellectual developmental disorder, autosomal recessive 37 (MRT37) : 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. [The disease is caused by variants 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)]

Tissue Specificity

Expressed in brain, neurons, muscles and other tissues

Subunit

Directly interacts with DMD and betaDAG1. This interaction does not interfere with binding between DMD and betaDAG1. It is also required for DMD and betaDAG1 retention at costameres (By similarity). Interacts (via N-terminal ANK repeats) with SCHIP1 isoform 5 (via C-terminus); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). May be a constituent of a NFASC/NRCAM/ankyrin G complex. Interacts with RHBG (PubMed:15611082). Interacts with PLEC and FLNC (PubMed:21223964). Interacts with KCNA1; this inhibits channel activity (PubMed:23903368). Interacts (via ANK repeats) with IQCJ-SCHIP1; required for IQCJ-SCHIP1 localization at axon initial segments (AIS) and nodes of Ranvier (PubMed:25950943). Interacts with SCHIP1 (PubMed:25950943). Interacts with SCN5A (PubMed:15579534). Interacts with PKP2 and GJA1/CX43 (By similarity). Interacts with PRICKLE2; the interaction is necessary for correct microtubule bundling (By similarity)

• Kordeli E. et al. AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier. — J. Biol. Chem. (1995)
• Devarajan P. et al. Identification of a small cytoplasmic ankyrin (AnkG119) in the kidney and muscle that binds beta I sigma spectrin and associates with the Golgi apparatus. — J. Cell Biol. (1996)
• Wiemann S. et al. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. — Genome Res. (2001)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• Deloukas P. et al. The DNA sequence and comparative analysis of human chromosome 10. — Nature (2004)
• Mohler P.J. et al. Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. — Proc. Natl. Acad. Sci. U.S.A. (2004)
• Lopez C. et al. The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells. — J. Biol. Chem. (2005)