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FHL1

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FHL1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFHL1, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA, RBMX1A, RBMX1B, four and a half LIM domains 1, FCMSU
External IDsOMIM: 300163; MGI: 1298387; HomoloGene: 31038; GeneCards: FHL1; OMA:FHL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

2273

14199

Ensembl

ENSG00000022267

ENSMUSG00000023092

UniProt

Q13642
Q5JXH9

P97447

RefSeq (mRNA)

NM_001077361
NM_001077362
NM_001287800
NM_010211

RefSeq (protein)

NP_001070829
NP_001070830
NP_001274729
NP_034341

Location (UCSC)Chr X: 136.15 – 136.21 MbChr X: 55.78 – 55.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.[5][6][7]

Structure

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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.[7]

Role in muscle disorders

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FHL1 has been shown to be heavily expressed in skeletal and cardiac muscles.[8] 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 least 15 disease-causing mutations in this gene have been discovered.[9] 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.[10]
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 20s, early 30s.[11]
Scapuloperoneal myopathy (SPM)
Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.[12]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000022267 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023092 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: FHL1 four and a half LIM domains 1".
  8. ^ 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.
  9. ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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

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

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