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    Pdlim3 PDZ and LIM domain 3 [ Mus musculus (house mouse) ]

    Gene ID: 53318, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pdlim3provided by MGI
    Official Full Name
    PDZ and LIM domain 3provided by MGI
    Primary source
    MGI:MGI:1859274
    See related
    Ensembl:ENSMUSG00000031636 AllianceGenome:MGI:1859274
    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
    ALP; Actn2lp
    Summary
    Enables cytoskeletal protein binding activity. A structural constituent of muscle. Acts upstream of or within actin filament organization and heart development. Located in actin cytoskeleton. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and sensory organ. Used to study arrhythmogenic right ventricular cardiomyopathy. Orthologous to human PDLIM3 (PDZ and LIM domain 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bladder adult (RPKM 302.3), colon adult (RPKM 44.0) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pdlim3 in Genome Data Viewer
    Location:
    8 B1.1; 8 25.86 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (46338524..46372672)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (45885487..45919635)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene sorbin and SH3 domain containing 2 Neighboring gene sorbin and SH3 domain containing 2, opposite strand Neighboring gene predicted gene, 25309 Neighboring gene STARR-seq mESC enhancer starr_21375 Neighboring gene STARR-positive B cell enhancer mm9_chr8:47020100-47020401 Neighboring gene coiled-coil domain containing 110 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:47060555-47060664 Neighboring gene cilia and flagella associated protein 96 Neighboring gene UFM1-specific peptidase 2 Neighboring gene ankyrin repeat domain 37

    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. Nuclear translocation of the cytoskeleton-associated protein, smALP, upon induction of skeletal muscle differentiation. Cambier L, et al. Biochem Biophys Res Commun, 2011 Jun 17. PMID 21620799
    2. Backbone NMR assignment of the internal interaction site of ALP. Alho N, et al. Biomol NMR Assign, 2007 Jul. PMID 19636834
    3. Actinin-associated LIM protein-deficient mice maintain normal development and structure of skeletal muscle. Jo K, et al. Mol Cell Biol, 2001 Mar. PMID 11238905, Free PMC Article
    4. The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line. Klaavuniemi T, et al. J Biol Chem, 2004 Jun 18. PMID 15084604
    5. The cytoskeleton-associated PDZ-LIM protein, ALP, acts on serum response factor activity to regulate muscle differentiation. Pomiès P, et al. Mol Biol Cell, 2007 May. PMID 17332502, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. upon induction of muscle differentiation a nuclear translocation of smALP from the cytoplasm to the nucleus of C2C12 myoblasts, concomitant to an up-regulation of the protein expression, occurs in parallel with the nuclear accumulation of myogenin.
      Title: Nuclear translocation of the cytoskeleton-associated protein, smALP, upon induction of skeletal muscle differentiation.
    2. characterized the internal interaction site of ALP by NMR
      Title: Backbone NMR assignment of the internal interaction site of ALP.
    3. ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line
      Title: The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line.
    4. critical role of ALP on muscle differentiation, likely via cytoskeletal regulation of SRF
      Title: The cytoskeleton-associated PDZ-LIM protein, ALP, acts on serum response factor activity to regulate muscle differentiation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actinin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables muscle alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within actin filament organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    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 Z disc TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in actin cytoskeleton IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of filamentous actin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    PDZ and LIM domain protein 3
    Names
    actinin alpha 2 associated LIM protein

    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_001374652.2 → NP_001361581.1  PDZ and LIM domain protein 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC113469, AC114558
      Consensus CDS
      CCDS90393.1
      UniProtKB/TrEMBL
      A0A1B0GSX6
      Related
      ENSMUSP00000148113.2, ENSMUST00000210422.2
      Conserved Domains (3) summary
      cd09450
      Location:294 → 346
      LIM_ALP; This family represents the LIM domain of ALP, actinin-associated LIM protein
      cd00992
      Location:2 → 80
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam15936
      Location:184 → 268
      DUF4749; Domain of unknown function (DUF4749)

    2. NM_016798.5 → NP_058078.1  PDZ and LIM domain protein 3 isoform 2

      See identical proteins and their annotated locations for NP_058078.1

      Status: VALIDATED

      Source sequence(s)
      AC113469, AC114558
      Consensus CDS
      CCDS22281.1
      UniProtKB/Swiss-Prot
      O70209
      Related
      ENSMUSP00000034053.6, ENSMUST00000034053.7
      Conserved Domains (3) summary
      cd09450
      Location:246 → 298
      LIM_ALP; This family represents the LIM domain of ALP, actinin-associated LIM protein
      cd00992
      Location:2 → 80
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam15936
      Location:137 → 220
      DUF4749; Domain of unknown function (DUF4749)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      46338524..46372672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70209.1 GenPept UniProtKB/Swiss-Prot:O70209

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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