FHL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X63, 2CUP, 2CUR
Identifiers
Aliases	FHL1, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA, RBMX1A, RBMX1B, four and a half LIM domains 1, FCMSU
External IDs	OMIM: 300163 MGI: 1298387 HomoloGene: 31038 GeneCards: FHL1
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.3 Start 136,146,702 bp[1] End 136,211,359 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A6 Start 55,777,147 bp[2] End 55,838,706 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in biceps brachii body of tongue vastus lateralis muscle deltoid muscle thoracic diaphragm tibialis anterior muscle urethra triceps brachii muscle synovial joint gastrocnemius muscle Top expressed in plantaris muscle ankle soleus muscle temporal muscle sternocleidomastoid muscle left lung lobe digastric muscle tibialis anterior muscle intercostal muscle masseter muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding transmembrane transporter binding metal ion binding molecular function Cellular component cytoplasm plasma membrane nucleus focal adhesion cytosol Biological process animal organ morphogenesis negative regulation of G1/S transition of mitotic cell cycle multicellular organism development cell differentiation muscle organ development negative regulation of cell growth regulation of potassium ion transmembrane transporter activity regulation of membrane depolarization negative regulation of G2/M transition of mitotic cell cycle positive regulation of potassium ion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2273 14199 Ensembl ENSG00000022267 ENSMUSG00000023092 UniProt Q13642 Q5JXH9 P97447 RefSeq (mRNA) NM_001159699 NM_001159700 NM_001159701 NM_001159702 NM_001159703 NM_001159704 NM_001167819 NM_001449 NM_001330659 NM_001369326 NM_001369327 NM_001369328 NM_001369329 NM_001369330 NM_001369331 NM_001077361 NM_001077362 NM_001287800 NM_010211 RefSeq (protein) NP_001153171 NP_001153172 NP_001153173 NP_001153174 NP_001153175 NP_001153176 NP_001161291 NP_001317588 NP_001440 NP_001356255 NP_001356256 NP_001356257 NP_001356258 NP_001356259 NP_001356260 NP_001070829 NP_001070830 NP_001274729 NP_034341 Location (UCSC) Chr X: 136.15 – 136.21 Mb Chr X: 55.78 – 55.84 Mb PubMed search [3] [4]
Wikidata
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Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.^[5][6][7]

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.^[7]

Role in muscle disorders

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]