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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; OMA:FHL1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	136,211,359 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	55,838,706 bp
RNA expression pattern
	Top expressed in
	Skeletal muscle tissue of rectus abdominis; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; body of tongue; ; vastus lateralis muscle; ; deltoid muscle; ; thoracic diaphragm; ; tibialis anterior muscle; ; urethra; ; triceps brachii muscle;
	Top expressed in
	plantaris muscle; ; ankle; ; soleus muscle; ; tunica media of zone of aorta; ; temporal muscle; ; sternocleidomastoid muscle; ; left lung lobe; ; digastric muscle; ; tibialis anterior muscle; ; intercostal muscle;
	More reference expression data
	; ; ; ;
	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
	2273
	14199
	ENSG00000022267
	ENSMUSG00000023092
	Q13642; Q5JXH9
	P97447
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
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
	Wikidata
View/Edit Human	View/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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000022267 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023092 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: FHL1 four and a half LIM domains 1".
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.