InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYOT

Summary

InnateDB Protein

IDBP-377329.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYOT

Protein Name

myotilin

Synonyms

LGMD1; LGMD1A; MFM3; TTID; TTOD;

Species

Homo sapiens

Ensembl Protein

ENSP00000391185

InnateDB Gene

IDBG-46284 (MYOT)

Protein Structure

UniProt Annotation

Function

Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269PubMed:12499399}.

Subcellular Localization

Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle.

Disease Associations

Limb-girdle muscular dystrophy 1A (LGMD1A) [MIM:159000]: An autosomal dominant degenerative myopathy with onset within a mean age of 28 years. Characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line. {ECO:0000269PubMed:10958653, ECO:0000269PubMed:12428213}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. {ECO:0000269PubMed:15111675}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. {ECO:0000269PubMed:16380616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269PubMed:10369880, ECO:0000269PubMed:10486214}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain

PFAM

PF07679
PF07686

PRINTS

PIRSF

SMART

SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UBF9