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    ANK3 ankyrin 3 [ Homo sapiens (human) ]

    Gene ID: 288, updated on 11-Jun-2021

    Summary

    Official Symbol
    ANK3provided by HGNC
    Official Full Name
    ankyrin 3provided by HGNC
    Primary source
    HGNC:HGNC:494
    See related
    Ensembl:ENSG00000151150 MIM:600465
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRT37; ANKYRIN-G
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 10.0), brain (RPKM 9.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANK3 in Genome Data Viewer
    Location:
    10q21.2
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (60026298..60733528, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (61786056..62493286, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 6 Neighboring gene long intergenic non-protein coding RNA 1553 Neighboring gene Sharpr-MPRA regulatory region 4517 Neighboring gene uncharacterized LOC107987153 Neighboring gene Sharpr-MPRA regulatory region 14495 Neighboring gene uncharacterized LOC107984292 Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 1 Neighboring gene ANK3 divergent transcript Neighboring gene cyclin dependent kinase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    GeneReviews: Not available
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    GeneReviews: Not available
    Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
    GeneReviews: Not available
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    GeneReviews: Not available
    Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.
    GeneReviews: Not available
    Genome-wide association study reveals two new risk loci for bipolar disorder.
    GeneReviews: Not available
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    GeneReviews: Not available
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    GeneReviews: Not available
    Mental retardation, autosomal recessive 37
    MedGen: C3809672 OMIM: 615493 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of ankyrin 3 (ANK3, ankyrin G) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ45464

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cytoskeletal anchor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytoskeletal protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables ion channel binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables spectrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables spectrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to magnesium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    involved_in establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in magnesium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in maintenance of protein location in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in membrane assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of delayed rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuromuscular junction development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuronal action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in plasma membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell communication by electrical coupling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of homotypic cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of membrane depolarization during cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of sodium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in protein localization to axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of potassium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon initial segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in costamere TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in spectrin-associated cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ankyrin-3
    Names
    ankyrin 3, node of Ranvier (ankyrin G)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029917.1 RefSeqGene

      Range
      4999..712229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001149.4NP_001140.2  ankyrin-3 isoform 2

      See identical proteins and their annotated locations for NP_001140.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 5' UTR and coding sequence compared to variant 1, resulting in an isoform (2) which is considerably shorter and different compared to isoform 1.
      Source sequence(s)
      AC023904, AK092527, AL136710, AL592430, AW451432
      Consensus CDS
      CCDS7259.1
      UniProtKB/Swiss-Prot
      Q12955
      UniProtKB/TrEMBL
      Q8NAK2
      Related
      ENSP00000347436.2, ENST00000355288.6
      Conserved Domains (2) summary
      smart00218
      Location:116220
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08803
      Location:609692
      Death_ank3; Death domain of Ankyrin-3
    2. NM_001204403.2NP_001191332.1  ankyrin-3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon compared to variant 1. The encoded protein (isoform 3) has a distinct N-terminus and is considerably shorter than isoform 1.
      Source sequence(s)
      AC022390, AC023904, AL359377, AW451432, BP245303, BX537917
      Consensus CDS
      CCDS55712.1
      UniProtKB/Swiss-Prot
      Q12955
      Related
      ENSP00000362933.2, ENST00000373827.6
      Conserved Domains (7) summary
      smart00218
      Location:9761080
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08803
      Location:14691552
      Death_ank3; Death domain of Ankyrin-3
      cd00204
      Location:62187
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:72158
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:625678
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:743797
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:690721
      ANK; ANK repeat [structural motif]
    3. NM_001204404.2NP_001191333.1  ankyrin-3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon compared to variant 1. The encoded protein (isoform 4) has a distinct N-terminus and is considerably shorter than isoform 1.
      Source sequence(s)
      AC023904, AK295661, AL359377, AL391707, AL592430, AW451432
      Consensus CDS
      CCDS55711.1
      UniProtKB/Swiss-Prot
      Q12955
      Related
      ENSP00000425236.1, ENST00000503366.5
      Conserved Domains (7) summary
      smart00218
      Location:9831087
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08803
      Location:14761559
      Death_ank3; Death domain of Ankyrin-3
      cd00204
      Location:51176
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:61147
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:614667
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:732786
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:679710
      ANK; ANK repeat [structural motif]
    4. NM_001320874.2NP_001307803.1  ankyrin-3 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains one and lacks two alternate in-frame exons in its 3' coding region compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC023904, AL359377, AL592430, AW451432, BP202757, BP310397, DB237893
      Conserved Domains (7) summary
      smart00218
      Location:9821086
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08803
      Location:14751558
      Death_ank3; Death domain of Ankyrin-3
      cd00204
      Location:68193
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:78164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:631684
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:749803
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:696727
      ANK; ANK repeat [structural motif]
    5. NM_020987.5NP_066267.2  ankyrin-3 isoform 1

      See identical proteins and their annotated locations for NP_066267.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC023904, AL359377, AL592430, AW451432, BP202757, U13616
      Consensus CDS
      CCDS7258.1
      UniProtKB/Swiss-Prot
      Q12955
      Related
      ENSP00000280772.1, ENST00000280772.7
      Conserved Domains (7) summary
      smart00218
      Location:9821086
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08803
      Location:40884171
      Death_ank3; Death domain of Ankyrin-3
      cd00204
      Location:68193
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:78164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:631684
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:749803
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:696727
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      60026298..60733528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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