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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:60,026,298-60,389,875)mRNA (may differ from genome)Protein (4377 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
myGene2neXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ANK3
Diseases sorted by gene-association score: mental retardation, autosomal recessive, 37* (1319), neuroma (30), plexiform neurofibroma (11), hutchinson-gilford progeria (8), brugada syndrome (7), sleep disorder (7), bipolar i disorder (6), deafness, autosomal recessive 12 (5), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D010634 Phenobarbital
  • C023514 2,6-dinitrotoluene
  • D001564 Benzo(a)pyrene
  • D016572 Cyclosporine
  • C009618 O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate
  • D013749 Tetrachlorodibenzodioxin
  • C495626 14-deoxy-11,12-didehydroandrographolide
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • C547126 AZM551248
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.13 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 200.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.90337-0.323 Picture PostScript Text
3' UTR -874.803548-0.247 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR000488 - Death
IPR011029 - DEATH-like
IPR000906 - ZU5

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF00531 - Death domain
PF00791 - ZU5 domain

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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: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

Cellular Component:
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 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:0030054 cell junction
GO:0030315 T-tubule
GO:0030424 axon
GO:0030425 dendrite
GO:0031594 neuromuscular junction
GO:0033268 node of Ranvier
GO:0042383 sarcolemma
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043034 costamere
GO:0043194 axon initial segment
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0005923 bicellular tight junction
GO:0009925 basal plasma membrane


-  Descriptions from all associated GenBank mRNAs
  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

-  Other Names for This Gene
  Alternate Gene Symbols: ANK3_HUMAN, B4DIL1, E9PE32, ENST00000280772.1, ENST00000280772.2, ENST00000280772.3, ENST00000280772.4, ENST00000280772.5, ENST00000280772.6, NM_020987, Q12955, Q5CZH9, Q5VXD5, Q7Z3G4, uc001jky.1, uc001jky.2, uc001jky.3, uc001jky.4, uc001jky.5
UCSC ID: ENST00000280772.7
RefSeq Accession: NM_020987
Protein: Q12955 (aka ANK3_HUMAN)
CCDS: CCDS7258.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.