InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FHL1

Summary

InnateDB Protein

IDBP-242164.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FHL1

Protein Name

four and a half LIM domains 1

Synonyms

FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA;

Species

Homo sapiens

Ensembl Protein

ENSP00000377710

InnateDB Gene

IDBG-87389 (FHL1)

Protein Structure

UniProt Annotation

Function

May have an involvement in muscle development or hypertrophy.

Subcellular Localization

Isoform 1: Cytoplasm.Isoform 3: Cytoplasm. Nucleus.Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.

Disease Associations

Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. {ECO:0000269PubMed:18179901}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. {ECO:0000269PubMed:18179888}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, reducing body, X-linked, early-onset, severe (RBM) [MIM:300717]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. {ECO:0000269PubMed:18274675}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, reducing body, X-linked, childhood-onset (CO- RBM) [MIM:300718]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10352231, ECO:0000269PubMed:10480922, ECO:0000269PubMed:10524257, ECO:0000269PubMed:11400158, ECO:0000269PubMed:9714789}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.

Experimentally validated
Total	49 [view]
Protein-Protein	49 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0044325	ion channel binding

Biological Process

GO:0003254	regulation of membrane depolarization
GO:0007517	muscle organ development
GO:0009887	organ morphogenesis
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle
GO:0030154	cell differentiation
GO:0030308	negative regulation of cell growth
GO:0043268	positive regulation of potassium ion transport
GO:1901016	regulation of potassium ion transmembrane transporter activity
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle