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    MURC muscle-related coiled-coil protein [ Homo sapiens ]

    Gene ID: 347273, updated on 11-May-2012
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    Summary

    Official Symbol
    MURCprovided by HGNC
    Official Full Name
    muscle-related coiled-coil proteinprovided by HGNC
    Primary source
    HGNC:33742
    See related
    Ensembl:ENSG00000170681; HPRD:18599; Vega:OTTHUMG00000020368
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAVIN4; cavin-4
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    Genomic context

    Location :
    9q31.1
    Sequence :
    Chromosome: 9; NC_000009.11 (103340336..103350180)
    See MURC in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene Myb/SANT-like DNA-binding domain containing 3 Neighboring gene transmembrane protein with EGF-like and two follistatin-like domains 1 Neighboring gene actin, gamma 1 pseudogene Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 26

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Rodriguez G, et al. Circ Cardiovasc Genet, 2011 Aug 1. PMID 21642240.
    2. MURC, a muscle-restricted coiled-coil protein, is involved in the regulation of skeletal myogenesis. Tagawa M, et al. Am J Physiol Cell Physiol, 2008 Aug. PMID 18508909.
    3. MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance. Ogata T, et al. Mol Cell Biol, 2008 May. PMID 18332105.
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.
    5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549.

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

    1. MURC mutations impart loss-of-function effects on MURC functions and probably are causal variants in human dilated cardiomyopathy
      Title: Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
    2. MURC modulates RhoA signaling, and MURC plays an important role in the development of cardiac dysfunction and conduction disturbance with increased vulnerability to atrial arrhythmias.
      Title: MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    muscle-related coiled-coil protein
    Names
    muscle-related coiled-coil protein
    muscle-restricted coiled-coil protein
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    NCBI Reference Sequences (RefSeq)

    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_001018116.1 → NP_001018126.1  muscle-related coiled-coil protein

      Status: VALIDATED

      Source sequence(s)
      AA192639, AL354917, BC090888
      Consensus CDS
      CCDS35083.1
      UniProtKB/Swiss-Prot
      Q5BKX8
      Related
      ENSP00000418668, OTTHUMP00000215932, ENST00000307584, OTTHUMT00000053419

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      103340336..103350180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      72939017..72948861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL354917.8 (87539..97383) None
    mRNA AA192639.1 None
    mRNA AK300099.1 BAG61900.1
    mRNA BC090888.1 AAH90888.1
    mRNA EU487253.1 ACA62935.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKX8.2 GenPept UniProtKB/Swiss-Prot:Q5BKX8
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    Additional Links

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content