FHL1 (four and a half LIM domains 1)

2007-02-01  

Identity

HGNC
LOCATION
Xq26.3
LOCUSID
ALIAS
FCMSU,FHL-1,FHL1A,FHL1B,FLH1A,KYOT,RBMX1A,RBMX1B,SLIM,SLIM-1,SLIM1,SLIMMER,XMPMA
FUSION GENES

Other Information

Locus ID:

NCBI: 2273
MIM: 300163
HGNC: 3702
Ensembl: ENSG00000022267

Variants:

dbSNP: 2273
ClinVar: 2273
TCGA: ENSG00000022267
COSMIC: FHL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000022267ENST00000370674Q5JXI8
ENSG00000022267ENST00000370676Q5JXI2
ENSG00000022267ENST00000370683Q13642
ENSG00000022267ENST00000394153Q13642
ENSG00000022267ENST00000394155Q13642
ENSG00000022267ENST00000420362Q5JXH8
ENSG00000022267ENST00000434885Q5JXI3
ENSG00000022267ENST00000449474Q5JXI0
ENSG00000022267ENST00000452016Q5JXI3
ENSG00000022267ENST00000456445Q5JXH7
ENSG00000022267ENST00000458357Q5JXH9
ENSG00000022267ENST00000535737Q13642
ENSG00000022267ENST00000539015Q13642
ENSG00000022267ENST00000543669Q13642
ENSG00000022267ENST00000618438Q13642
ENSG00000022267ENST00000625935A0A0D9SGC5
ENSG00000022267ENST00000627383A0A0D9SGB2
ENSG00000022267ENST00000627578A0A0D9SFB0
ENSG00000022267ENST00000627812A0A0D9SEY7
ENSG00000022267ENST00000628032A0A0D9SFZ9
ENSG00000022267ENST00000628443A0A0D9SFI6
ENSG00000022267ENST00000628568Q13642
ENSG00000022267ENST00000628919Q13642
ENSG00000022267ENST00000629039Q13642
ENSG00000022267ENST00000630084Q13642
ENSG00000022267ENST00000630278A0A0D9SGD1
ENSG00000022267ENST00000651089Q13642
ENSG00000022267ENST00000651256A0A494C1G1
ENSG00000022267ENST00000651929Q13642
ENSG00000022267ENST00000652457A0A494C0D6
ENSG00000022267ENST00000652745A0A494C0J3

Expression (GTEx)

0
500
1000
1500
2000
2500

Pathways

PathwaySourceExternal ID
Jak-STAT signaling pathwayKEGGko04630
Jak-STAT signaling pathwayKEGGhsa04630

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197161122009Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.66
191395642009Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway.59
181798882008An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.45
190751122008Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.45
227782662012A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics.43
164072972006Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly.42
182746752008Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.42
198503432009Immune evasion of the human pathogenic yeast Candida albicans: Pra1 is a Factor H, FHL-1 and plasminogen binding surface protein.40
181799012008X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.37
225230912012Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.35

Citation

Dessen P

FHL1 (four and a half LIM domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45582/fhl1