Human Gene ANK3 (ENST00000280772.7) from GENCODE V44
Description: Homo sapiens ankyrin 3 (ANK3), transcript variant 1, mRNA. (from RefSeq NM_020987) RefSeq Summary (NM_020987): Ankyrins are a family of proteins 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 the 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. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]. Gencode Transcript: ENST00000280772.7 Gencode Gene: ENSG00000151150.22 Transcript (Including UTRs) Position: hg38 chr10:60,026,298-60,389,875 Size: 363,578 Total Exon Count: 44 Strand: - Coding Region Position: hg38 chr10:60,042,691-60,389,538 Size: 346,848 Coding Exon Count: 43
ID:ANK3_HUMAN DESCRIPTION: RecName: Full=Ankyrin-3; Short=ANK-3; AltName: Full=Ankyrin-G; 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. 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). May be a constituent of a neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane (By similarity). Lysosome (By similarity). Note=In skeletal muscle, localized at costameres and neuromuscular junctions (By similarity). In macrophages, associated with lysosomes (By similarity). TISSUE SPECIFICITY: Expressed in brain, neurons and other tissues. DOMAIN: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity). DISEASE: Note=Genetic variations in ANK3 are associated with autism spectrum disorders susceptibility. SIMILARITY: Contains 23 ANK repeats. SIMILARITY: Contains 1 death domain. SIMILARITY: Contains 2 ZU5 domains. SEQUENCE CAUTION: Sequence=CAH73232.1; Type=Erroneous gene model prediction; Sequence=CAI40518.1; Type=Erroneous gene model prediction; Sequence=CAI41373.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Wikipedia; Note=Ankyrin entry; URL="http://en.wikipedia.org/wiki/Ankyrin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12955
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000281 mitotic cytokinesis GO:0006888 ER to Golgi vesicle-mediated transport GO:0007009 plasma membrane organization GO:0007016 cytoskeletal anchoring at plasma membrane GO:0007165 signal transduction GO:0007409 axonogenesis 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:0010960 magnesium ion homeostasis 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:0071286 cellular response to magnesium ion GO:0071709 membrane assembly GO:0072659 protein localization to plasma membrane GO:0072660 maintenance of protein location in 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:1902260 negative regulation of delayed rectifier potassium channel activity GO:2000651 positive regulation of sodium ion transmembrane transporter activity GO:2001259 positive regulation of cation channel activity
BX537917 - Homo sapiens mRNA; cDNA DKFZp686P17114 (from clone DKFZp686P17114). U13616 - Human ankyrin G (ANK-3) mRNA, complete cds. BX648574 - Homo sapiens mRNA; cDNA DKFZp686I225 (from clone DKFZp686I225). AK128784 - Homo sapiens cDNA FLJ45464 fis, clone BRSTN2012089. AK092361 - Homo sapiens cDNA FLJ35042 fis, clone OCBBF2017489, highly similar to Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 2, mRNA. AX747500 - Sequence 1025 from Patent EP1308459. AL136710 - Homo sapiens mRNA; cDNA DKFZp566P0524 (from clone DKFZp566P0524). AK128763 - Homo sapiens cDNA FLJ45214 fis, clone BRCAN2019098. AK124230 - Homo sapiens cDNA FLJ42236 fis, clone TKIDN2000701, highly similar to Ankyrin-3. AK126851 - Homo sapiens cDNA FLJ44903 fis, clone BRAMY3005184, highly similar to Mus musculus ankyrin 3, epithelial (Ank3). AK292927 - Homo sapiens cDNA FLJ78657 complete cds, highly similar to Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 2, mRNA. AK295661 - Homo sapiens cDNA FLJ58990 complete cds, highly similar to Ankyrin-3. EU832293 - Synthetic construct Homo sapiens clone HAIB:100067322; DKFZo008B0827 ankyrin 3, node of Ranvier (ankyrin G) protein (ANK3) gene, encodes complete protein. EU832377 - Synthetic construct Homo sapiens clone HAIB:100067406; DKFZo004B0828 ankyrin 3, node of Ranvier (ankyrin G) protein (ANK3) gene, encodes complete protein. U43965 - Human ankyrin G119 (ANK3) mRNA, complete cds. AB209308 - Homo sapiens mRNA for ankyrin 3 isoform 1 variant protein. JD375323 - Sequence 356347 from Patent EP1572962. JD222682 - Sequence 203706 from Patent EP1572962. JD077563 - Sequence 58587 from Patent EP1572962. JD302579 - Sequence 283603 from Patent EP1572962. JD360929 - Sequence 341953 from Patent EP1572962. JD268782 - Sequence 249806 from Patent EP1572962. JD126454 - Sequence 107478 from Patent EP1572962. JD365884 - Sequence 346908 from Patent EP1572962. JD046663 - Sequence 27687 from Patent EP1572962. JD429357 - Sequence 410381 from Patent EP1572962. JD556756 - Sequence 537780 from Patent EP1572962. JD510506 - Sequence 491530 from Patent EP1572962. JD095931 - Sequence 76955 from Patent EP1572962. JD103905 - Sequence 84929 from Patent EP1572962. JD523672 - Sequence 504696 from Patent EP1572962. EF139851 - Homo sapiens clone 2-3 ankyrin 3 splice variant (ANK3) mRNA, partial sequence; alternatively spliced. EF139850 - Homo sapiens clone 2-2 ankyrin 3 splice variant (ANK3) mRNA, partial sequence; alternatively spliced. AK092527 - Homo sapiens cDNA FLJ35208 fis, clone PLACE6018938, highly similar to Mus musculus epithelial ankyrin 3 (Ank3) 5kb isoform mRNA. JD424445 - Sequence 405469 from Patent EP1572962. JD289991 - Sequence 271015 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q12955 (Reactome details) participates in the following event(s):
R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex R-HSA-374675 L1 dimer binds Ankyrin R-HSA-445076 Phosphorylation of Y1229 in L1 R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1 R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle R-HSA-6807878 COPI-mediated anterograde transport R-HSA-445095 Interaction between L1 and Ankyrins R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-373760 L1CAM interactions R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-422475 Axon guidance R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-1266738 Developmental Biology R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins