FHL1

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Four and a half LIM domains 1
Protein FHL1 PDB 1x63.png
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 OMIM300163 MGI1298387 HomoloGene31038 GeneCards: FHL1 Gene
RNA expression pattern
PBB GE FHL1 201540 at tn.png
PBB GE FHL1 201539 s at tn.png
PBB GE FHL1 210298 x at tn.png
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:
135.23 – 135.29 Mb
Chr X:
56.73 – 56.79 Mb
PubMed search [1] [2]

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

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.[supplied by OMIM][3]

Role in muscle disorders[edit]

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)
[5] An adult-onset muscle disorder known to affect families in Austria and the UK.
Reducing body myopathy (RBM)
[6] 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 20s, early 30s.
Scapuloperoneal (SP) syndrome
[7] Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.

References[edit]

  1. ^ Morgan MJ, Madgwick AJ (Oct 1996). "Slim defines a novel family of LIM-proteins expressed in skeletal muscle". Biochem Biophys Res Commun 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 (Oct 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. ^ a b "Entrez Gene: FHL1 four and a half LIM domains 1". 
  4. ^ Lee SM, Tsui SK, Chan KK et al. (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 et al. (January 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 et al. (March 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 et al. (January 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[edit]

External links[edit]

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