FHL1

Four and a half LIM domains 1

PDB rendering based on 1x63.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FHL1 ; FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
External IDs OMIM: 300163 MGI: 1298387 HomoloGene: 31038 GeneCards: FHL1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2273 14199
Ensembl ENSG00000022267 ENSMUSG00000023092
UniProt Q13642 P97447
RefSeq (mRNA) NM_001159699 NM_001077361
RefSeq (protein) NP_001153171 NP_001070829
Location (UCSC) Chr X:
136.15 – 136.21 Mb		 Chr X:
56.73 – 56.79 Mb
PubMed search

Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.[1][2][3]

Structure

LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[3]

Role in muscle disorders

FHL1 has been shown to be heavily expressed in skeletal and cardiac muscles.[4] In 2008 this was borne out by the discovery that defects in the FHL1 gene are responsible for a number of Muscular dystrophy-like muscle disorders, ranging from severe, childhood onset diseases through to adult-onset disorders similar to Limb girdle muscular dystrophy. At present different research groups are using different terminology for these disorders, which include:

X-linked myopathy with postural muscle atrophy (XMPMA)
An adult-onset muscle disorder known to affect families in Austria and the UK.[5]
Reducing body myopathy (RBM)
A rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. The effects of the disorder can be either severe, with onset of weakness at approximately five years, or adult onset, with weakness occurring in the late 1920s, early 1930s.[6]
Scapuloperoneal (SP) syndrome
Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.[7]

References

  1. ↑ Morgan MJ, Madgwick AJ (Aug 1996). "Slim defines a novel family of LIM-proteins expressed in skeletal muscle". Biochemical and Biophysical Research Communications 225 (2): 632–8. doi:10.1006/bbrc.1996.1222. PMID 8753811.
  2. ↑ Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene 216 (1): 163–70. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789.
  3. 1 2 "Entrez Gene: FHL1 four and a half LIM domains 1".
  4. ↑ Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene 216 (1): 163–70. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789.
  5. ↑ Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S (Jan 2008). "An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1". American Journal of Human Genetics 82 (1): 88–99. doi:10.1016/j.ajhg.2007.09.004. PMC 2253986. PMID 18179888.
  6. ↑ Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG (Mar 2008). "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy". The Journal of Clinical Investigation 118 (3): 904–12. doi:10.1172/JCI34450. PMC 2242623. PMID 18274675.
  7. ↑ Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M (Jan 2008). "X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1". American Journal of Human Genetics 82 (1): 208–13. doi:10.1016/j.ajhg.2007.09.013. PMC 2253963. PMID 18179901.

Further reading

  • Morgan MJ, Madgwick AJ, Charleston B, Pell JM, Loughna PT (Jul 1995). "The developmental regulation of a novel muscle LIM-protein". Biochemical and Biophysical Research Communications 212 (3): 840–6. doi:10.1006/bbrc.1995.2045. PMID 7626119. 
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • Tani S, Taniwaki M, Taniguchi Y, Minoguchi S, Kuroda K, Han H, Aoki T, Miyatake S, Hashimoto N, Honjo T (1999). "Chromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-L". Journal of Human Genetics 44 (1): 73–5. doi:10.1007/s100380050112. PMID 9929984. 
  • Morgan MJ, Madgwick AJ (Feb 1999). "The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle". Biochemical and Biophysical Research Communications 255 (2): 245–50. doi:10.1006/bbrc.1999.0179. PMID 10049693. 
  • Greene WK, Baker E, Rabbitts TH, Kees UR (May 1999). "Genomic structure, tissue expression and chromosomal location of the LIM-only gene, SLIM1". Gene 232 (2): 203–7. doi:10.1016/S0378-1119(99)00125-0. PMID 10352231. 
  • Brown S, McGrath MJ, Ooms LM, Gurung R, Maimone MM, Mitchell CA (Sep 1999). "Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and in nuclear-cytoplasmic communication". The Journal of Biological Chemistry 274 (38): 27083–91. doi:10.1074/jbc.274.38.27083. PMID 10480922. 
  • Lee SM, Li HY, Ng EK, Or SM, Chan KK, Kotaka M, Chim SS, Tsui SK, Waye MM, Fung KP, Lee CY (Sep 1999). "Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1". Gene 237 (1): 253–63. doi:10.1016/S0378-1119(99)00251-6. PMID 10524257. 
  • Ng EK, Lee SM, Li HY, Ngai SM, Tsui SK, Waye MM, Lee CY, Fung KP (2001). "Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)". Journal of Cellular Biochemistry 82 (1): 1–10. doi:10.1002/jcb.1110. PMID 11400158. 
  • Lange S, Auerbach D, McLoughlin P, Perriard E, Schäfer BW, Perriard JC, Ehler E (Dec 2002). "Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2". Journal of Cell Science 115 (Pt 24): 4925–36. doi:10.1242/jcs.00181. PMID 12432079. 
  • Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. 
  • McGrath MJ, Mitchell CA, Coghill ID, Robinson PA, Brown S (Dec 2003). "Skeletal muscle LIM protein 1 (SLIM1/FHL1) induces alpha 5 beta 1-integrin-dependent myocyte elongation". American Journal of Physiology. Cell Physiology 285 (6): C1513–26. doi:10.1152/ajpcell.00207.2003. PMID 12917103. 
  • Qin H, Wang J, Liang Y, Taniguchi Y, Tanigaki K, Han H (2004). "RING1 inhibits transactivation of RBP-J by Notch through interaction with LIM protein KyoT2". Nucleic Acids Research 32 (4): 1492–501. doi:10.1093/nar/gkh295. PMC 390284. PMID 14999091. 
  • Philippar U, Schratt G, Dieterich C, Müller JM, Galgóczy P, Engel FB, Keating MT, Gertler F, Schüle R, Vingron M, Nordheim A (Dec 2004). "The SRF target gene Fhl2 antagonizes RhoA/MAL-dependent activation of SRF". Molecular Cell 16 (6): 867–80. doi:10.1016/j.molcel.2004.11.039. PMID 15610731. 
  • Qin H, Du D, Zhu Y, Li J, Feng L, Liang Y, Han H (Feb 2005). "The PcG protein HPC2 inhibits RBP-J-mediated transcription by interacting with LIM protein KyoT2". FEBS Letters 579 (5): 1220–6. doi:10.1016/j.febslet.2005.01.022. PMID 15710417. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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