tbFHL1ljuwdt.docVIP

Protein names Recommended name:????Four and a half LIM domains protein 1??????Short name=FHL-1Alternative name(s):????Skeletal muscle LIM-protein 1??????Short name=SLIM 1??????Short name=SLIM Gene names Name:? FHL1 Synonyms:? SLIM1 Organism Homo sapiens (Human) [Complete proteome] Taxonomic identifier 9606 [NCBI] Taxonomic lineage Eukaryota ? Metazoa ? Chordata ? Craniata ? Vertebrata ? Euteleostomi ? Mammalia ? Eutheria ? Euarchontoglires ? Primates ? Haplorrhini ? Catarrhini ? Hominidae ? Homo Hide | Top Protein attributes Sequence length 323 AA. Sequence status Complete. Sequence processing The displayed sequence is further processed into a mature form. Protein existence Evidence at protein level. Hide | Top General annotation (Comments) Function May have an involvement in muscle development or hypertrophy. Subcellular location Isoform 1: Cytoplasm. Ref.5 Ref.6 Ref.7 Isoform 3: Cytoplasm. Nucleus. Ref.5 Ref.6 Ref.7 Isoform 2: Nucleus. Cytoplasm ? cytosol. Note: Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes. Ref.5 Ref.6 Ref.7 Tissue specificity Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle. Ref.5 Ref.6 Ref.7 Ref.3 Ref.4 Developmental stage Elevated levels during postnatal muscle growth. Ref.10 Involvement in disease Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy [MIM:300695]. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as une forme hereditaire datrophie musculaire progressive beginning in the lower legs and affecting the shoulder region