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MYOT myotilin [ Homo sapiens (human) ]

Gene ID: 9499, updated on 5-Aug-2018
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]
Expression
Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues See more
Orthologs
See MYOT in Genome Data Viewer
Location:
5q31.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 
axon guidance receptor activity IBA
Inferred from Biological aspect of Ancestor
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
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
synapse organization IBA
Inferred from Biological aspect of Ancestor
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 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 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

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