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    MYOT myotilin [ Homo sapiens (human) ]

    Gene ID: 9499, updated on 2-May-2024

    Summary

    Official Symbol
    MYOTprovided by HGNC
    Official Full Name
    myotilinprovided by HGNC
    Primary source
    HGNC:HGNC:12399
    See related
    Ensembl:ENSG00000120729 MIM:604103; AllianceGenome:HGNC:12399
    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]
    Expression
    Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5q31.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (137867860..137887851)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138394286..138414287)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137203549..137223540)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuropeptide Y receptor Y6 (pseudogene) Neighboring gene uncharacterized LOC107986368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23189 Neighboring gene PKD2L2 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137199613-137199779 Neighboring gene polycystin 2 like 2, transient receptor potential cation channel Neighboring gene MPRA-validated peak5488 silencer Neighboring gene family with sequence similarity 13 member B Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137338418-137338597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137366081-137366582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23191 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137367957-137368840 Neighboring gene uncharacterized LOC124901077 Neighboring gene FAM13B antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myofibrillar myopathy 3
    MedGen: C3714934 OMIM: 609200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-actinin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables axon guidance receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myotilin
    Names
    57 kDa cytoskeletal protein
    myofibrillar titin-like Ig domains protein
    titin immunoglobulin domain protein (myotilin)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135940.2NP_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
      Consensus CDS
      CCDS47268.1
      UniProtKB/Swiss-Prot
      Q9UBF9
      Related
      ENSP00000391185.2, ENST00000421631.6
      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_001300911.2NP_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/TrEMBL
      B4DT68
      Related
      ENSP00000426281.1, ENST00000515645.1
      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_006790.3NP_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
      A0A4R6, B4DT79, Q9UBF9
      UniProtKB/TrEMBL
      A0A0C4DFM5, A0A0S2Z522
      Related
      ENSP00000239926.4, ENST00000239926.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      137867860..137887851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010061.2XP_016865550.1  myotilin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138394286..138414287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353825.1XP_054209800.1  myotilin isoform X1