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Details on Person UniProt:O15061 SYNM
| Class:Id | ReferenceGeneProduct:53774 |
|---|---|
| _chainChangeLog | chain:1-1565 added on Fri February 6 2015 |
| _displayName | UniProt:O15061 SYNM |
| _timestamp | 2024-11-03 20:21:43 |
| chain | chain:1-1565 |
| checksum | C76056C65127C1C8 |
| comment | FUNCTION Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric 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 heteromeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.SUBUNIT Interacts with GFAP and VIM (By similarity). Isoform 1 interacts with TLN1 and VCL. Isoform 2 interacts with DES and DTNA. Isoform 1 and isoform 2 interact with DMD and UTRN.INTERACTION 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.ALTERNATIVE PRODUCTS 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.DEVELOPMENTAL STAGE In lens, first detected at 16 weeks when expression is weakly and uniformly distributed. Subsequently, expression becomes much stronger in the epithelium of the anterior part at 25 weeks and later. In retina, weakly expressed at 15 weeks in the nerve fiber and ganglion cell layers (NFL and GCL). From 25 weeks onwards, much stronger expression is observed in the endfeet of Mueller cells, the NFL, and GCL, and much lower expression is observed in a minor subpopulation of cells in the inner cell layer (INL). At 30 and 36 weeks, expression remains in the neural retina, and subsequently becomes stronger in the NFL, GCL, and INL and is decreased in Mueller cells. At 36 weeks, also expressed at the external border of the outer nuclear layer (ONL) (at protein level).SIMILARITY Belongs to the intermediate filament family. |
| description | recommendedName: fullName evidence="17"Synemin alternativeName: Desmuslin |
| geneName | SYNM DMN KIAA0353 SYN |
| identifier | O15061 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell junction Coiled coil Cytoplasm Cytoskeleton Intermediate filament Methylation Phosphoprotein Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SYNM |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962389] ENSEMBL:ENSG00000182253 SYNM [Homo sapiens] |
| secondaryIdentifier | SYNEM_HUMAN A7E2Y2 Q2TBJ4 Q5NJJ9 Q8TE61 Q8TE62 |
| sequenceLength | 1565 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:146460] UniProt:O15061-2 SYNM [Homo sapiens] [ReferenceIsoform:394854] UniProt:O15061-3 SYNM [Homo sapiens] [ReferenceIsoform:401296] UniProt:O15061-1 SYNM [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:3209846] SYNM [cytosol] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O15061 SYNM (53774)
