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Myot
Gene Detail
 Symbol
Name
ID
Myot
myotilin
MGI:1889800
Synonyms 5530402I04Rik, Ttid
Feature Type protein coding gene
Genetic Map
Chromosome 18
23.74 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:44334074-44355724 bp, + strand
From VEGA annotation of GRCm38

  21651 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4942  Vertebrate Homology Class
1 human; 1 mouse; 3 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Myot

Human
homologs
Human Homolog MYOT, myotilin
NCBI Gene ID 9499
neXtProt AC  NX_Q9UBF9
Human Synonyms  LGMD1, LGMD1A, MFM3, TTID, TTOD
Human Chr (Location)  5q31; chr5:137867847-137887851 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human MYOT
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology.
 
Interactions
Myot interacts with 126 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process biological_process
Component cytoplasm, cytoskeleton, ...
Function actin binding, alpha-actinin binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (111)    Tissues (46)    Images (40)
Theiler Stages: 12, 14, 16, 18, 21, 23, 24
Assay TypeResults
Immunohistochemistry 9
RNA in situ 102
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000014922 (Evidence)
Ensembl Gene ModelENSMUSG00000024471 (Evidence)
Entrez Gene58916 (Evidence)
UniGene143804
DFCITC1581682
DoTSDT.60117963
NIA Mouse Gene IndexU018687
Consensus CDS ProjectCCDS29228.1
International Mouse Knockout Project StatusMyot
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014922 VEGA Gene Model | MGI Sequence Detail 21651 C57BL/6J ±  kb
transcript OTTMUST00000035442 VEGA | MGI Sequence Detail 2209 Not Applicable 
polypeptide OTTMUSP00000015858 VEGA | MGI Sequence Detail 496 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(8) UniProt(2)
Polymorphisms SNPs within 2kb(223 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
Protein Ontology PR:000010881 myotilin
References (Earliest) J:64352 Hauser MA, et al., Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(29)
Other
accession IDs
MGI:1921762

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory