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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MURC Gene

protein-coding   GIFtS: 44
GCID: GC09P103341

Muscle-Related Coiled-Coil Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Muscle-Related Coiled-Coil Protein1 2
Muscle-Restricted Coiled-Coil Protein1 2 3
CAVIN42
cavin-42

External Ids:    HGNC: 337421   Entrez Gene: 3472732   Ensembl: ENSG000001706817   UniProtKB: Q5BKX83   

Export aliases for MURC gene to outside databases

Previous GC identifers: GC09P102381 GC09P072939


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MURC Gene:
This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase)
signaling in cardiac muscles cells, and may facilitate myofibrillar organization. (provided by RefSeq, Jun 2013)

GeneCards Summary for MURC Gene: 
MURC (muscle-related coiled-coil protein) is a protein-coding gene. Diseases associated with MURC include diastolic heart failure, and familial dilated cardiomyopathy. An important paralog of this gene is PRKCDBP.

UniProtKB/Swiss-Prot: MURC_HUMAN, Q5BKX8
Function: Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the
Rho/ROCK signaling pathway




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MURC gene promoter:
         HFH-3   USF1   HTF   FOXI1   MEF-2A   HFH-1   USF-1   aMEF-2   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMURC promoter sequence
   Search SABiosciences Chromatin IP Primers for MURC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MURC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31.1   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31.1

MURC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MURC gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P103341:  view genomic region     (about GC identifiers)

Start:
103,340,336 bp from pter      End:
103,350,188 bp from pter
Size:
9,853 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MURC_HUMAN, Q5BKX8 (See protein sequence)
Recommended Name: Muscle-related coiled-coil protein  
Size: 364 amino acids; 41899 Da
Subunit: Interacts with SDPR; this augments the transactivation of NPPA
Subcellular location: Cytoplasm, myofibril, sarcomere (By similarity). Cytoplasm (By similarity). Note=In
cardiomyocytes, accumulates in the Z-line of the sarcomere. In vascular smooth muscle cells, detected diffusely
throughout the cytoplasm (By similarity)
Sequence caution: Sequence=AAH90888.1; Type=Erroneous initiation;
Secondary accessions: B1PRL3 B4DT88

Explore the universe of human proteins at neXtProt for MURC: NX_Q5BKX8

Explore proteomics data for MURC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5BKX8

  • MURC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MURC Protein Expression
    REFSEQ proteins: NP_001018126.1  
    ENSEMBL proteins: 
     ENSP00000418668  

    Human Recombinant Protein Products for MURC: 
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    Cloud-Clone Corp. Proteins for MURC 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0030018Z disc IEA--

    MURC for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MURC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026752 Cavin_fam

    Graphical View of Domain Structure for InterPro Entry Q5BKX8

    ProtoNet protein and cluster: Q5BKX8

    UniProtKB/Swiss-Prot: MURC_HUMAN, Q5BKX8
    Similarity: Belongs to the PTRF/SDPR family


    MURC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MURC_HUMAN, Q5BKX8
    Function: Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the
    Rho/ROCK signaling pathway

    Animal Models:

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    SwitchGear 3'UTR luciferase reporter plasmidMURC 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MURC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MURC

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007517muscle organ development IEA--
    GO:0030154cell differentiation IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    MURC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MURC

    Search CenterWatch for drugs/clinical trials and news about MURC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MURC gene: 
    NM_001018116.2  

    Unigene Cluster for MURC:

    Muscle-related coiled-coil protein
    Hs.99004  [show with all ESTs]
    Unigene Representative Sequence: AK128238
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307584(uc004bba.3)
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MURC (see all 10):
    hsa-miR-22 hsa-miR-136 hsa-miR-7-2* hsa-miR-548e hsa-miR-218 hsa-miR-548a-3p hsa-miR-138-1* hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidMURC 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MURC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MURC
    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MURC

    Additional mRNA sequence: 

    AK128238.1 AK300099.1 BC090888.1 EU487253.1 

    3 DOTS entries:

    DT.454875  DT.101971746  DT.205907 

    20 AceView cDNA sequences:

    AA446953 AA443378 W58229 BU101920 BX281689 CF552121 BF061524 AJ707712 
    AA679236 Z28835 F31738 AA621376 F28328 W58230 AA192639 AA192640 
    F22522 AJ709762 AW380047 BE092000 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MURC expression in normal human tissues (normalized intensities)      MURC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCCTGTCCC
    MURC Expression
    About this image


    MURC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             vastus lateralis   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Heart (Cardiovascular System)
             heart muscle ; myocytes   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Mesenchymal Stem Cells
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    See MURC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MURC

    SOURCE GeneReport for Unigene cluster: Hs.99004
        SABiosciences Custom PCR Arrays for MURC
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MURC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MURC gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Murc1 , 5 muscle-related coiled-coil protein1, 5 81.95(n)1
    83.15(a)1
      4 (26.23 cM)5
    680161  NM_026509.31  NP_080785.21 
     486635145 
    chicken
    (Gallus gallus)
    Aves MURC1 muscle-related coiled-coil protein 65.51(n)
    61.1(a)
      420986  XM_419073.2  XP_419073.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239482 Xenopus laevis transcribed sequence with weak similarity more 72.47(n)    BX847617.1 
    zebrafish
    (Danio rerio)
    Actinopterygii murcb6
    MURC (2 of 2)6
    muscle-related coiled-coil protein
    41(a)
    34(a)
    many → 1
    many → 1
    24(34959506-34965880)
    2(42292710-42299718)


    ENSEMBL Gene Tree for MURC (if available)
    TreeFam Gene Tree for MURC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MURC gene
    PRKCDBP2  PTRF2  SDPR2  
    1 SIMAP similar gene for MURC using alignment to 1 protein entry:     MURC_HUMAN:
    PTRF

    MURC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/254 SNPs in MURC are shown (see all 254)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1415898721,2
    C,F--103340482(+) CTGTCG/AAGTGT 2 /S syn11Minor allele frequency- A:0.00NA 4550
    rs736573281,2
    C,F--103340658(+) ACAGTC/TGCATA 2 S L mis13Minor allele frequency- T:0.01WA NA 4670
    rs1465387611,2
    C,F--103340659(+) CAGTCG/ACATAG 2 /S syn12Minor allele frequency- A:0.00NA EU 5849
    rs1491656201,2
    C,F--103340668(+) AGCAAT/GACAGG 2 /K /N mis11Minor allele frequency- G:0.00NA 4548
    rs1912891331,2
    --103340706(+) AACCCA/GAAAAG 2 Q R mis10--------
    rs2002766501,2
    C--103340715(+) AGTTAA/GTGCTC 2 N S mis10--------
    rs1432680131,2
    C,F--103340809(+) AAAAAC/GAAATT 2 N K mis11Minor allele frequency- G:0.00NA 4432
    rs1469230401,2
    C--103340816(+) AATTCC/TGCGTG 2 R C mis11Minor allele frequency- T:0.00NA 4372
    rs1379217421,2
    C,F--103340817(+) ATTCCG/ACGTGG 2 /H /R mis12Minor allele frequency- A:0.00NA EU 5664
    rs1827208081,2
    --103340820(+) CCGCGA/TGGTAA 2 E V mis10--------

    HapMap Linkage Disequilibrium report for MURC (103340336 - 103350188 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MURC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893623CNV Gain21882294


    Human Gene Mutation Database (HGMD): MURC
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MURC
    DNA2.0 Custom Variant and Variant Library Synthesis for MURC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for MURC:    About MalaCards
    diastolic heart failure    familial dilated cardiomyopathy    dilated cardiomyopathy


    MURC for disorders           About GeneDecksing

    Genetic Association Database (GAD): MURC

    Export disorders for MURC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MURC gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with MURC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance. (PubMed id 18332105)1, 2, 3 Ogata T.... Oh H. (2008)
    2. MURC, a muscle-restricted coiled-coil protein, is involved in the regulation of skeletal myogenesis. (PubMed id 18508909)1, 3 Tagawa M....Oh H. (2008)
    3. FSHD myotubes with different phenotypes exhibit distin ct proteomes. (PubMed id 23272181)1 Tassin A....Belayew A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. Molecular genetic and functional characterization imp licate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. (PubMed id 21642240)1 Rodriguez G....Marian A.J. (2011)
    7. MURC/Cavin-4 and cavin family members form tissue-spe cific caveolar complexes. (PubMed id 19546242)1 Bastiani M....Parton R.G. (2009)
    8. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 347273 HGNC: 33742 AceView: LOC347273 Ensembl:ENSG00000170681 euGenes: HUgn347273
    ECgene: MURC H-InvDB: MURC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MURC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MURC gene:
    Search GeneIP for patents involving MURC

    GeneCards and IP:
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