InnateDB Protein
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IDBP-594199.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FHL1
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Protein Name
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four and a half LIM domains 1
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Synonyms
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FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000444815
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InnateDB Gene
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IDBG-87389 (FHL1)
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Protein Structure
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Function |
May have an involvement in muscle development or hypertrophy.
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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.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
49
[view]
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Protein-Protein |
49
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0003254
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regulation of membrane depolarization
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GO:0007517
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muscle organ development
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GO:0009887
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organ morphogenesis
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GO:0010972
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negative regulation of G2/M transition of mitotic cell cycle
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GO:0030154
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cell differentiation
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GO:0030308
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negative regulation of cell growth
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GO:0043268
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positive regulation of potassium ion transport
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GO:1901016
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regulation of potassium ion transmembrane transporter activity
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GO:2000134
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negative regulation of G1/S transition of mitotic cell cycle
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Cellular Component |
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PDB ID |
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InterPro |
IPR001781
Zinc finger, LIM-type
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PFAM |
PF00412
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PRINTS |
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PIRSF |
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SMART |
SM00132
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TIGRFAMs |
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Modification |
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SwissProt |
Q13642
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PhosphoSite |
PhosphoSite-Q13642
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TrEMBL |
Q5JXI8
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UniProt Splice Variant |
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Entrez Gene |
2273
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UniGene |
Hs.619207
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RefSeq |
NP_001153172
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HUGO |
HGNC:3702
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OMIM |
300163
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CCDS |
CCDS14655
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HPRD |
02157
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IMGT |
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EMBL |
AF063002
AF098518
AF110763
AF220153
AK122708
AK289411
AK299381
AK301642
AL078638
BC010998
BC088369
CH471150
CR456974
U29538
U60115
U60118
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GenPept |
AAC35421
AAC50795
AAC52021
AAC72390
AAC72886
AAD21579
AAF32351
AAH10998
AAH88369
BAF82100
BAG53680
BAH13020
BAH13529
CAC18881
CAG33255
CAI41055
CAI41062
EAW88476
EAW88478
EAW88479
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