four & a half LIM domains protein 1; FHL-1; skeletal muscle LIM-protein 1; SLIM; SLIM-1 (FHL1, SLIM1)

Function

• may have an involvement in muscle development or hypertrophy

Structure

• contains 3 LIM Zn+2-binding domains

Compartment

• isoform 1: cytoplasm
• isoform 2: nucleus, cytoplasm
  • predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes
• isoform 3: cytoplasm, nucleus

Alternative splicing

named isoforms=3

Expression

• isoform 1
  • highly expressed in skeletal muscle
  • lower expression heart, placenta, ovary, prostate, testis, small intestine, colon & spleen.
  • barely detectable in brain, lung, liver, kidney, pancreas, thymus & peripheral blood leukocytes
• isoform 2:
  • expressed in brain skeletal muscle
  • lower expresion in heart, colon, prostate & small intestine
• isoform 3 is expressed in testis, heart & skeletal muscle
• elevated levels during postnatal muscle growth

Pathology

• defects in FHL1 are the cause of
  • X-linked dominant scapuloperoneal myopathy
  • X-linked myopathy with postural muscle atrophy
  • reducing body myopathy
    • severe early-onset
    • childhood-onset

More general terms

• LIM domain protein
• zinc finger protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2273
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2273
• OMIM: https://mirror.omim.org/entry/300163
• OMIM: https://mirror.omim.org/entry/300695
• OMIM: https://mirror.omim.org/entry/300696
• OMIM: https://mirror.omim.org/entry/300717
• OMIM: https://mirror.omim.org/entry/300718
• UniProt: http://www.uniprot.org/uniprot/Q13642.html