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myotilin (titin immunoglobulin domain protein, myofibrillar titin-like Ig domains protein, 57 kD cytoskeletal protein, MYOT, TTID)
Function:
1) component of a complex of multiple actin cross-linking proteins
2) role in control of myofibril assembly & stability at Z-disks in muscle cells
3) interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC & MYOZ2
4) interacts with C-terminal region of MYOZ1
Structure:
- homodimer
- contains 2 Ig-like C2-type domains (immunoglobulin-like)
Compartment:
- cell membrane, sarcolemma
- colocalizes with MYOZ1 at Z-lines in skeletal muscle
Expression:
- expressed in skeletal muscle, heart, bone marrow, thyroid
Pathology:
- defects in MYOT are the cause of autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A)
- defects in MYOT are the cause of myotilinopathy
- defects in MYOT are the cause of spheroid body myopathy
General
other protein
Properties
SIZE: MW = 55 kD
entity length = 498 aa
MOTIF: ACTN1 interaction {79-150}
ACTA1 interaction {215-498}
MOTIF: FLNC interaction {215-493}
immunoglobulin superfamily domain {250-335}
immunoglobulin superfamily domain {349-441}
Database Correlations
OMIM correlations
MORBIDMAP 604103
UniProt Q9UBF9
Pfam PF07679
References
- UniProt :accession Q9UBF9
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TTID