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    Synm synemin, intermediate filament protein [ Mus musculus (house mouse) ]

    Gene ID: 233335, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Synmprovided by MGI
    Official Full Name
    synemin, intermediate filament proteinprovided by MGI
    Primary source
    MGI:MGI:2661187
    See related
    Ensembl:ENSMUSG00000030554 AllianceGenome:MGI:2661187
    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
    Dmn; Syn; Synemin; E130104F11; 4930412K21Rik
    Summary
    Enables intermediate filament binding activity. Acts upstream of or within fast-twitch skeletal muscle fiber contraction. Located in neurofilament cytoskeleton and sarcolemma. Is expressed in several structures, including adipose tissue; genitourinary system; gut; musculature; and nervous system. Orthologous to human SYNM (synemin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bladder adult (RPKM 111.2), colon adult (RPKM 14.6) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Synm in Genome Data Viewer
    Location:
    7 C; 7 37.12 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (67379909..67409490, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (67730161..67759742, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 28 Neighboring gene STARR-seq mESC enhancer starr_19098 Neighboring gene predicted gene, 32983 Neighboring gene STARR-seq mESC enhancer starr_19100 Neighboring gene STARR-seq mESC enhancer starr_19102 Neighboring gene STARR-positive B cell enhancer ABC_E550 Neighboring gene tetratricopeptide repeat domain 23 Neighboring gene predicted gene, 34140 Neighboring gene RIKEN cDNA 4833412C05 gene Neighboring gene predicted gene, 34350 Neighboring gene STARR-seq mESC enhancer starr_19103 Neighboring gene predicted gene, 39027

    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 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. Synemin expression in brain. Mizuno Y, et al. Muscle Nerve, 2007 Oct. PMID 17654553
    2. Synemin isoforms during mouse development: multiplicity of partners in vascular and neuronal systems. Izmiryan A, et al. Exp Cell Res, 2009 Mar 10. PMID 19124017
    3. Expression of synemin in the mouse spinal cord. Mizuno Y, et al. Muscle Nerve, 2009 May. PMID 19229966, Free PMC Article
    4. Absence of synemin in mice causes structural and functional abnormalities in heart. García-Pelagio KP, et al. J Mol Cell Cardiol, 2018 Jan. PMID 29247678, Free PMC Article
    5. Deficiency of the intermediate filament synemin reduces bone mass in vivo. Moorer MC, et al. Am J Physiol Cell Physiol, 2016 Dec 1. PMID 27605453, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Synemin is a target of myocardin family coactivators.
      Title: Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators.
    2. synemin plays an important regulatory role in the heart and that the consequences of its absence are profound.
      Title: Absence of synemin in mice causes structural and functional abnormalities in heart.
    3. Suggest that synemin contributes to linkage between costameres and the contractile apparatus and that the absence of synemin results in decreased fiber size and increased sarcolemmal deformability and susceptibility to injury.
      Title: Myopathic changes in murine skeletal muscle lacking synemin.
    4. results show that synemin is necessary to maintain membrane integrity and regulates signalling molecules during muscle hypertrophy.
      Title: Synemin acts as a regulator of signalling molecules during skeletal muscle hypertrophy.
    5. alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin
      Title: α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin.
    6. These analyses show that synemin transcript and its encoded protein colocalize in the anterior horn cells and that no differences in synemin expression were found in nerve tissue from C57BL/6 or mdx mice.
      Title: Expression of synemin in the mouse spinal cord.
    7. Synemin isoforms during mouse development.
      Title: Synemin isoforms during mouse development: multiplicity of partners in vascular and neuronal systems.
    8. Alpha- and beta-synemin transcripts and their encoded proteins colocalize in neurons, especially in the midbrain and pons.
      Title: Synemin expression in brain.
    9. synemin gene encodes proteins belonging to the intermediate filament which confer resistance to mechanical stress and modulate cell shape.
      Title: Different expression of synemin isoforms in glia and neurons during nervous system development.
    10. Dmn is expressed in reactive astrocytes in neurotrauma and interacts differentially with Vim and Gfap.
      Title: Synemin is expressed in reactive astrocytes in neurotrauma and interacts differentially with vimentin and GFAP intermediate filament networks.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC56976

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables intermediate filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intermediate filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of muscle ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of muscle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables vinculin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables vinculin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables vinculin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in fast-twitch skeletal muscle fiber contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within fast-twitch skeletal muscle fiber contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intermediate filament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in costamere ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in costamere ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intermediate filament ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neurofilament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neurofilament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    synemin

    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_183312.3 → NP_899135.3  synemin isoform L

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frameshift and early stop codon, compared to variant 1. The encoded protein (isoform L) has a shorter and distinct C-terminus, compared to isoform H.
      Source sequence(s)
      AC158296, AK143019
      Consensus CDS
      CCDS85316.1
      UniProtKB/TrEMBL
      A0A140LJ61
      Related
      ENSMUSP00000147089.2, ENSMUST00000208231.2
      Conserved Domains (1) summary
      pfam00038
      Location:10 → 318
      Filament; Intermediate filament protein

    2. NM_201639.2 → NP_964001.2  synemin isoform H

      See identical proteins and their annotated locations for NP_964001.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (H).
      Source sequence(s)
      AC158296, AK143019
      Consensus CDS
      CCDS39982.1
      UniProtKB/Swiss-Prot
      Q3UPZ4, Q6A081, Q70IV3, Q70IV4, Q70IV5
      Related
      ENSMUSP00000073855.5, ENSMUST00000074233.12
      Conserved Domains (2) summary
      pfam00038
      Location:10 → 318
      Filament; Intermediate filament protein
      pfam13801
      Location:79 → 157
      Metal_resist; Heavy-metal resistance

    3. NM_207663.3 → NP_997546.2  synemin isoform M

      See identical proteins and their annotated locations for NP_997546.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a shorter protein (isoform M), compared to isoform H.
      Source sequence(s)
      AC158296, AK143019
      Consensus CDS
      CCDS39983.1
      UniProtKB/Swiss-Prot
      Q70IV5
      Related
      ENSMUSP00000050987.9, ENSMUST00000051389.10
      Conserved Domains (2) summary
      pfam00038
      Location:10 → 318
      Filament; Intermediate filament protein
      pfam13801
      Location:79 → 157
      Metal_resist; Heavy-metal resistance

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      67379909..67409490 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70IV5.2 GenPept UniProtKB/Swiss-Prot:Q70IV5

    Gene LinkOut

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

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