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    Lmna lamin A [ Mus musculus (house mouse) ]

    Gene ID: 16905, updated on 11-May-2013
    Official Symbol
    Lmnaprovided by MGI
    Official Full Name
    lamin Aprovided by MGI
    Primary source
    MGI:96794
    See related
    Ensembl:ENSMUSG00000028063; Vega:OTTMUSG00000030317
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dhe
    Summary
    This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
    Location :
    3 F1; 3 38.84 cM
    Sequence :
    Chromosome: 3; NC_000069.6 (88481149..88503332, complement)
    See Lmna in Epigenomics, MapViewer

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A Neighboring gene high mobility group box 3 pseudogene Neighboring gene mex3 homolog A (C. elegans) Neighboring gene microRNA 1905 Neighboring gene RAB25, member RAS oncogene family

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:201176 BioGRID:197946 Actg1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:198109 Anxa3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:198208 Arpc1b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:107506 CFTR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:198536 Cbx3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:198538 Cbx5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:215081 Cnn3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207488 Ddx39b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:205050 Ddx3y    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207720 Eif3i    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:199436 Emd    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:199507 Esd    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:231529 Glt25d1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:782535 Gm15032    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:240433 Gm5414    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:241504 Gm5560    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:206062 Hist1h1e    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207865 Hnrnph2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:231344 Hnrnpul1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204301 Hsp90b1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204851 Ik    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:200780 Invs    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:229985 Larp4b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:221046 Lbr    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:237587 Lemd3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:201177 Lmnb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:201178 Lmnb2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:211851 Luc7l    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:213586 Mlip    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:201176 BioGRID:211799 Mtap    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:201650 Myh9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207511 Nphp1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207889 Pitpnb    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:213066 Ppil1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:202421 Psmb5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:202531 Rab10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:208489 Rab2a    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:234840 Rab5a    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:202549 Rab5c    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:234782 Rab6b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:202553 Rab7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:231785 Rbm10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:203073 Sar1a    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:203149 Sec22b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:211777 Serbp1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:207743 Sfn    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:203557 Strap    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:218484 Sun1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:201176 BioGRID:230179 Sun2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:201176 BioGRID:235364 Syne2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:232018 Tnpo1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204276 Top2a    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:228970 Tor1aip1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204197 Trim28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:205144 Trp53bp1    BioGRID  PubMed Dosage Rescue 
    BioGRID:201176 BioGRID:204368 Ttn    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204408 Ube2i    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:199785 Xrcc6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:201176 BioGRID:204620 Ywhag    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    establishment of cell polarity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    establishment or maintenance of microtubule cytoskeleton polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle organ development ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear envelope organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell aging ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
     
    regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sterol regulatory element binding protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    lamin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
     
    nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    prelamin-A/C
    Names
    prelamin-A/C
    lamin C
    lamin-A/C

    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_001002011.3NP_001002011.2  prelamin-A/C isoform A precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
      Source sequence(s)
      AC145168, AK004619, AK147150, AW047412
      Consensus CDS
      CCDS38482.1
      UniProtKB/TrEMBL
      B3RH23
      UniProtKB/Swiss-Prot
      P48678
      Related
      ENSMUSP00000029699, OTTMUSP00000039297, ENSMUST00000029699, OTTMUST00000075092
      Conserved Domains (2) summary
      pfam00038
      Location:30378
      Blast Score: 515
      Filament; Intermediate filament protein
      pfam00932
      Location:432541
      Blast Score: 205
      LTD; Lamin Tail Domain
    2. NM_001111102.2NP_001104572.1  prelamin-A/C isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C) has a distinct and shorter C-terminus, compared to isoform A.
      Source sequence(s)
      AC145168, AK149998, AK210245
      Consensus CDS
      CCDS50951.1
      UniProtKB/TrEMBL
      B3RH24
      UniProtKB/Swiss-Prot
      P48678
      UniProtKB/TrEMBL
      Q3U733
      UniProtKB/TrEMBL
      Q3UCU3
      Related
      ENSMUSP00000113093, OTTMUSP00000039298, ENSMUST00000120377, OTTMUST00000075093
      Conserved Domains (2) summary
      pfam00038
      Location:30378
      Blast Score: 505
      Filament; Intermediate filament protein
      pfam00932
      Location:432541
      Blast Score: 206
      LTD; Lamin Tail Domain
    3. NM_019390.3NP_062263.1  prelamin-A/C isoform C2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C2) has distinct N- and C-termini and is shorter than isoform A.
      Source sequence(s)
      AC102388, AC145168, BY140664
      Consensus CDS
      CCDS38483.1
      UniProtKB/Swiss-Prot
      P48678
      Related
      ENSMUSP00000040265, OTTMUSP00000039299, ENSMUST00000036252, OTTMUST00000075094
      Conserved Domains (2) summary
      pfam00038
      Location:19266
      Blast Score: 324
      Filament; Intermediate filament protein
      pfam00932
      Location:320429
      Blast Score: 204
      LTD; Lamin Tail Domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

    Reference GRCm38.p1 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p1 C57BL/6J

      Range
      88481149..88503332, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000025.1 Alternate Mm_Celera

      Range
      88521102..88543289, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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