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    MYOT myotilin [ Homo sapiens (human) ]

    Gene ID: 9499, updated on 11-Nov-2017
    Official Symbol
    MYOTprovided by HGNC
    Official Full Name
    myotilinprovided by HGNC
    Primary source
    HGNC:HGNC:12399
    See related
    Ensembl:ENSG00000120729 MIM:604103; Vega:OTTHUMG00000129154
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFM3; TTID; TTOD; LGMD1; LGMD1A
    Summary
    This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
    Orthologs
    Location:
    5q31.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (137867282..137887851)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137203536..137223540)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuropeptide Y receptor Y6 (pseudogene) Neighboring gene uncharacterized LOC107986368 Neighboring gene uncharacterized LOC101928005 Neighboring gene polycystin 2 like 2, transient receptor potential cation channel Neighboring gene family with sequence similarity 13 member B Neighboring gene uncharacterized LOC100130172

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Limb-girdle muscular dystrophy, type 1A Compare labs
    Myotilinopathy
    MedGen: C1836607 OMIM: 609200 GeneReviews: Myofibrillar Myopathy
    Compare labs
    Spheroid body myopathy
    MedGen: C1866785 OMIM: 182920 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-actinin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    myotilin
    Names
    57 kDa cytoskeletal protein
    myofibrillar titin-like Ig domains protein
    titin immunoglobulin domain protein (myotilin)

    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.

    Genomic

    1. NG_008894.1 RefSeqGene

      Range
      5001..24996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_201

    mRNA and Protein(s)

    1. NM_001135940.1NP_001129412.1  myotilin isoform b

      See identical proteins and their annotated locations for NP_001129412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' region, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF133820, AK300088, DA896167
      Consensus CDS
      CCDS47268.1
      UniProtKB/Swiss-Prot
      Q9UBF9
      Related
      ENSP00000391185.2, OTTHUMP00000223460, ENST00000421631.6, OTTHUMT00000372396
      Conserved Domains (3) summary
      cd05892
      Location:182256
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:66156
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:65149
      Ig; Immunoglobulin domain
    2. NM_001300911.1NP_001287840.1  myotilin isoform c

      See identical proteins and their annotated locations for NP_001287840.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal segment in the 5' region, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF133820, AK300076, DA896167
      Consensus CDS
      CCDS75309.1
      UniProtKB/Swiss-Prot
      Q9UBF9
      UniProtKB/TrEMBL
      B4DT68
      Related
      ENSP00000426281.1, OTTHUMP00000223461, ENST00000515645.1, OTTHUMT00000372398
      Conserved Domains (3) summary
      cd05892
      Location:251325
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:135225
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:134218
      Ig; Immunoglobulin domain
    3. NM_006790.2NP_006781.1  myotilin isoform a

      See identical proteins and their annotated locations for NP_006781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF133820, BC005376, DA896167
      Consensus CDS
      CCDS4194.1
      UniProtKB/Swiss-Prot
      Q9UBF9
      UniProtKB/TrEMBL
      A0A0C4DFM5
      Related
      ENSP00000239926.4, OTTHUMP00000159430, ENST00000239926.8, OTTHUMT00000251219
      Conserved Domains (3) summary
      cd05892
      Location:366440
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:250340
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:249333
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      137867282..137887851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010060.1XP_016865549.1  myotilin isoform X1

    2. XM_017010062.1XP_016865551.1  myotilin isoform X1

    3. XM_017010061.1XP_016865550.1  myotilin isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      136636150..136656170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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