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ANK3 ankyrin 3 [ Homo sapiens (human) ]

Gene ID: 288, updated on 3-Oct-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
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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 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 
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane transporter binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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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