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Nexn nexilin [ Mus musculus (house mouse) ]

Gene ID: 68810, updated on 5-Mar-2024

Summary

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Official Symbol
Nexnprovided by MGI
Official Full Name
nexilinprovided by MGI
Primary source
MGI:MGI:1916060
See related
Ensembl:ENSMUSG00000039103 AllianceGenome:MGI:1916060
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NELIN; 1110046H09Rik
Summary
Predicted to enable actin filament binding activity and cell-cell adhesion mediator activity. Predicted to be a structural constituent of muscle. Acts upstream of or within response to bacterium. Predicted to be located in Z disc; actin cytoskeleton; and focal adhesion. Predicted to be active in axon and plasma membrane. Is expressed in diaphragm; gut; head mesenchyme; heart; and vertebral axis musculature. Used to study dilated cardiomyopathy 1CC and hypertrophic cardiomyopathy 20. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1CC and hypertrophic cardiomyopathy 20. Orthologous to human NEXN (nexilin F-actin binding protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 4.1), bladder adult (RPKM 3.6) and 10 other tissues See more
Orthologs
human all
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Genomic context

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See Nexn in Genome Data Viewer
Location:
3 H3; 3 77.07 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (151942619..151972000, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (152236982..152266350, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member B4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:151866980-151867163 Neighboring gene predicted gene, 40180 Neighboring gene STARR-positive B cell enhancer ABC_E2101 Neighboring gene far upstream element (FUSE) binding protein 1 Neighboring gene STARR-seq mESC enhancer starr_09284 Neighboring gene STARR-positive B cell enhancer mm9_chr3:151922476-151922776 Neighboring gene predicted gene, 31999 Neighboring gene mitoguardin 1 Neighboring gene VISTA enhancer mm72

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Homozygous G650del nexilin variant causes cardiomyopathy in mice. Liu C, et al. JCI Insight, 2020 Aug 20. PMID 32814711, Free PMC Article
  2. Nexilin Is a New Component of Junctional Membrane Complexes Required for Cardiac T-Tubule Formation. Liu C, et al. Circulation, 2019 Jul 2. PMID 30982350, Free PMC Article
  3. Nexilin Is Necessary for Maintaining the Transverse-Axial Tubular System in Adult Cardiomyocytes. Spinozzi S, et al. Circ Heart Fail, 2020 Jul. PMID 32635769, Free PMC Article
  4. Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis. Aherrahrou Z, et al. Basic Res Cardiol, 2016 Jan. PMID 26659360
  5. Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN. Hu YW, et al. J Clin Invest, 2019 Mar 1. PMID 30589415, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous G650del nexilin variant causes cardiomyopathy in mice.
    Title: Homozygous G650del nexilin variant causes cardiomyopathy in mice.
  2. NEXN is a pivotal component of the junctional membrane complex and is required for the formation of cardiac T-tubules.
    Title: Nexilin Is a New Component of Junctional Membrane Complexes Required for Cardiac T-Tubule Formation.
  3. Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.
    Title: Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.
  4. these results further emphasize the role of NEXN in dilated cardiomyopathy and suggest a novel role in endomyocardial fibroelastosis.
    Title: Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis.
  5. NEXN as a novel gene for ASD and its function to inhibit GATA4 established a critical regulation of an F-actin binding protein on a transcription factor in cardiac development
    Title: NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding ISO
Inferred from Sequence Orthology
more info
  
enables cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of muscle ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cell migration ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to bacterium IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Z disc ISO
Inferred from Sequence Orthology
more info
  
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell-substrate junction ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in focal adhesion ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
nexilin
Names
F-actin-binding protein
nF actin binding protein
nexilin alpha
nexilin beta
nexilin gamma

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001357206.2 → NP_001344135.1  nexilin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC123075
    Consensus CDS
    CCDS89710.1
    UniProtKB/TrEMBL
    A0A0G2JEX1, G4W8R2
    Related
    ENSMUSP00000142936.2, ENSMUST00000199423.5
    Conserved Domains (2) summary
    PTZ00121
    Location:25 → 549
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:577 → 666
    I-set; Immunoglobulin I-set domain

  2. NM_199465.4 → NP_955759.2  nexilin isoform 2

    See identical proteins and their annotated locations for NP_955759.2

    Status: VALIDATED

    Source sequence(s)
    AC123075
    Consensus CDS
    CCDS38673.1
    UniProtKB/Swiss-Prot
    E9QJX5, Q3TQP3, Q3UWU2, Q3UWU6, Q3UX39, Q7TPW1
    UniProtKB/TrEMBL
    G4W8R2
    Related
    ENSMUSP00000037120.9, ENSMUST00000046045.13
    Conserved Domains (2) summary
    PTZ00121
    Location:7 → 386
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:513 → 602
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    151942619..151972000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036163268.1 → XP_036019161.1  nexilin isoform X2

    UniProtKB/TrEMBL
    G4W8R2
    Related
    ENSMUSP00000143573.2, ENSMUST00000198460.5
    Conserved Domains (3) summary
    PTZ00121
    Location:28 → 485
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:563 → 652
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:563 → 565
    Ig; Ig strand A [structural motif]

  2. XM_006501993.5 → XP_006502056.1  nexilin isoform X1

    See identical proteins and their annotated locations for XP_006502056.1

    UniProtKB/TrEMBL
    A0A0G2JEX1, G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:25 → 549
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:577 → 666
    I-set; Immunoglobulin I-set domain

  3. XM_006501998.5 → XP_006502061.1  nexilin isoform X3

    See identical proteins and their annotated locations for XP_006502061.1

    UniProtKB/Swiss-Prot
    E9QJX5, Q3TQP3, Q3UWU2, Q3UWU6, Q3UX39, Q7TPW1
    UniProtKB/TrEMBL
    G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:7 → 386
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:513 → 602
    I-set; Immunoglobulin I-set domain

  4. XM_006501996.5 → XP_006502059.1  nexilin isoform X2

    UniProtKB/TrEMBL
    G4W8R2
    Related
    ENSMUSP00000143133.2, ENSMUST00000199470.5
    Conserved Domains (3) summary
    PTZ00121
    Location:28 → 485
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:563 → 652
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:563 → 565
    Ig; Ig strand A [structural motif]

  5. XM_011240216.4 → XP_011238518.1  nexilin isoform X4

    UniProtKB/TrEMBL
    G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:5 → 421
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:499 → 588
    I-set; Immunoglobulin I-set domain

  6. XM_006501990.5 → XP_006502053.1  nexilin isoform X1

    See identical proteins and their annotated locations for XP_006502053.1

    UniProtKB/TrEMBL
    A0A0G2JEX1, G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:25 → 549
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:577 → 666
    I-set; Immunoglobulin I-set domain

  7. XM_011240214.4 → XP_011238516.1  nexilin isoform X1

    See identical proteins and their annotated locations for XP_011238516.1

    UniProtKB/TrEMBL
    A0A0G2JEX1, G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:25 → 549
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:577 → 666
    I-set; Immunoglobulin I-set domain

  8. XM_030252783.2 → XP_030108643.1  nexilin isoform X2

    UniProtKB/TrEMBL
    G4W8R2
    Conserved Domains (3) summary
    PTZ00121
    Location:28 → 485
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:563 → 652
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:563 → 565
    Ig; Ig strand A [structural motif]

  9. XM_006501991.4 → XP_006502054.1  nexilin isoform X1

    See identical proteins and their annotated locations for XP_006502054.1

    UniProtKB/TrEMBL
    A0A0G2JEX1, G4W8R2
    Conserved Domains (2) summary
    PTZ00121
    Location:25 → 549
    PTZ00121; MAEBL; Provisional
    pfam07679
    Location:577 → 666
    I-set; Immunoglobulin I-set domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TPW1.3 GenPept UniProtKB/Swiss-Prot:Q7TPW1

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