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    Nexn nexilin [ Mus musculus (house mouse) ]

    Gene ID: 68810, updated on 21-Apr-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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    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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