Skeletal muscle protein FHL-1
| Four and a half LIM domain protein 1 | ||
|---|---|---|
|
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| Ribbon model of amino acids 91–158 of FHL-1, according to PDB 1X63 | ||
| Properties of human protein | ||
| Mass / length primary structure | 323 aa, 32 kDa | |
| Isoforms | FHL1A, FHL1B, FHL1C | |
| Identifier | ||
| Gene names | FHL1 bA535K18.1, FHL1B, FLH1A, "Four-and-a-half LIM domains 1", KYO-T, "LIM protein SLIMMER", MGC111107, SLIM1, XMPMA | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 2273 | 14199 |
| Ensemble | ENSG00000022267 | ENSMUSG00000023092 |
| UniProt | Q13642 | P97447 |
| Refseq (mRNA) | NM_001159699 | NM_001077361 |
| Refseq (protein) | NP_001153171 | NP_001070829 |
| Gene locus | Chr X: 136.15 - 136.21 Mb | Chr X: 56.73 - 56.79 Mb |
| PubMed search | 2273 |
14199
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Four and a half LIM domain protein 1 ( FHL-1 for short ), also skeletal muscle LIM-protein 1 ( SLIM or SLIM-1 for short ) is a protein that is found in the FHL1 gene (“Four-and-a-half LIM domains 1 “gene) is encoded . The gene is located on the long arm of the X chromosome . The exact location is Xq26.3. In total there are 3 isoforms of the protein by alternative splicing are formed and in each case in several and various tissues, including in skeletal muscle , expressed are.
The four and a half LIM domains protein 1 has a total of four and a half LIM domains. A LIM domain is a highly conserved double zinc finger domain that consists of over 50 amino acids and is rich in cysteine . “LIM” is an acronym for 3 proteins in which this zinc finger domain or homeodomain also occurs: LIN11 , ISL1 and MEC3 (from Caenorhabditis elegans ).
The function of the LIM proteins, including FHL-1, is unclear. It is known that they are involved in tissue-specific gene regulation through interactions with other proteins in the cell nucleus and in the organization of the cytoskeleton in the cytoplasm .
Medical importance
In total, more than 25 mutations in the FHL-1 gene have been detected since the first mutation in the FHL1 gene was detected in 2008. Four muscle disorders are associated with mutations in the FHL1 gene:
- X-linked recessive inherited skapuloperoneale muscular dystrophy
- Reducing Body Myopathy (RBM)
- X-linked myopathy with postural muscular atrophy (XMPMA)
- Emery Dreifuss Muscular Dystrophy Type 6 (EDMD 6)
They are also known as FHL1 gene associated myopathies or FHL1opathies .
Individual evidence
- ↑ a b P. H. Chu, J. Chen: The novel roles of four and a half LIM proteins 1 and 2 in the cardiovascular system. In: Chang Gung medical journal Volume 34, number 2, 2011 Mar-Apr, pp. 127-134 , ISSN 2072-0939 . PMID 21539754 . (Review).
- ^ BS Cowling, DL Cottle u. a .: Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. In: Neuromuscular disorders: NMD Volume 21, Number 4, April 2011, pp. 237-251, ISSN 1873-2364 . doi : 10.1016 / j.nmd.2011.01.001 . PMID 21310615 . (Review).
- ↑ FHL-1. In: Online Mendelian Inheritance in Man . (English), last accessed September 1, 2011