Homo sapiens Gene: MYOT
Summary
InnateDB Gene IDBG-46284.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYOT
Gene Name myotilin
Synonyms LGMD1; LGMD1A; MFM3; TTID; TTOD;
Species Homo sapiens
Ensembl Gene ENSG00000120729
Encoded Proteins
myotilin
myotilin
myotilin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:137867791-137887851
Strand Forward strand
Band q31.2
Transcripts
ENST00000239926 ENSP00000239926
ENST00000421631 ENSP00000391185
ENST00000511625
ENST00000509812
ENST00000515645 ENSP00000426281
ENST00000511254
ENST00000503748
ENST00000508938
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
Biological Process
GO:0006936 muscle contraction
Cellular Component
GO:0015629 actin cytoskeleton
GO:0030018 Z disc
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9UBF9
TrEMBL B4DT68
UniProt Splice Variant
Entrez Gene 9499
UniGene Hs.669093 Hs.84665
RefSeq NM_006790 NM_001135940 NM_001300911 XM_005272129
HUGO HGNC:12399
OMIM 604103
CCDS CCDS4194 CCDS47268 CCDS75309
HPRD 04981
IMGT
EMBL AC106791 AF133820 AF144477 AK300076 AK300088 BC005376
GenPept AAD29051 AAD44754 AAH05376 BAG61880 BAG61891
RNA Seq Atlas 9499