Gene Symbol |
SYNM
|
Entrez Gene |
23336
|
Alt Symbol |
DMN, SYN
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
synemin, intermediate filament protein
|
Other Description |
desmuslin|synemin|synemin alpha|synemin beta
|
Swissprots |
Q8TE61 O15061 Q5NJJ9 Q8TE62 A7E2Y2 Q2TBJ4
|
Accessions |
EAX02230 EAX02231 EAX02232 O15061 AB002351 BAA20810 AF359284 AAK57487 AJ310521 CAC83858 AJ310522 CAC83859 AJ697971 CAG27071 AK026420 AL833262 AW292788 BC022358 BC063699 BC110066 AAI10067 BC151243 AAI51244 DQ581412 NM_015286 NP_056101 NM_145728 NP_663780
|
Function |
Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells. {ECO:0000269|PubMed:11353857, ECO:0000269|PubMed:16777071, ECO:0000269|PubMed:18028034}.
|
Subcellular Location |
Cytoplasm, cytoskeleton. Cell junction, adherens junction. Note=There are at least two distinct SYNM subpopulations, one in which SYMN interacts with DES within the Z- lines, and another in which it interacts with both DTNA and DES at the costamere.
|
Tissue Specificity |
Isoform 2 is strongly detected in adult heart, fetal skeletal muscles and fetal heart. Isoform 1 is weakly detected in fetal heart and also in fetal skeletal muscle. Isoform 1 and isoform 2 are detected in adult bladder (at protein level). The mRNA is predominantly expressed in heart and muscle with some expression in brain which may be due to tissue-specific isoforms. {ECO:0000269|PubMed:11353857, ECO:0000269|PubMed:11737198}.
|