FHL1
entrez
2273
canonical
uniprot
Q13642
canonical
ensembl
ENSG00000022267
resolver
ensp
ENSP00000359708
resolver
ensp
ENSP00000359710
resolver
ensp
ENSP00000359717
resolver
ensp
ENSP00000377709
resolver
ensp
ENSP00000377710
resolver
ensp
ENSP00000437673
resolver
ensp
ENSP00000443333
resolver
ensp
ENSP00000444815
resolver
ensp
ENSP00000477609
resolver
ensp
ENSP00000485897
resolver
ensp
ENSP00000498684
resolver
ensp
ENSP00000499016
resolver
ensp
ENSP00000643470
resolver
enst
ENST00000370676
resolver
genesymbol
FHL1
resolver
genesymbol_syn
SLIM1
resolver
hgnc
HGNC:3702
resolver
uniprot
B7Z5T4
resolver
uniprot
B7Z793
resolver
uniprot
B7Z9A1
resolver
uniprot
O95212
resolver
uniprot
Q13230
resolver
uniprot
Q13645
resolver
uniprot
Q5JXI2
resolver
uniprot
Q5JXI7
resolver
uniprot
Q5M7Y6
resolver
uniprot
Q6IB30
resolver
uniprot
Q9NZ40
resolver
uniprot
Q9UKZ8
resolver
uniprot
Q9Y630
resolver
uniprot_entry
B7Z9A1_HUMAN
resolver
uniprot_entry
FHL1_HUMAN
resolver
uniprot_entry
Q5JXI2_HUMAN
resolver
uniprot_sec
B7Z5T4
resolver
uniprot_sec
B7Z793
resolver
uniprot_sec
O95212
resolver
uniprot_sec
Q13230
resolver
uniprot_sec
Q13645
resolver
uniprot_sec
Q5JXI7
resolver
uniprot_sec
Q5M7Y6
resolver
uniprot_sec
Q6IB30
resolver
uniprot_sec
Q9NZ40
resolver
uniprot_sec
Q9UKZ8
resolver
uniprot_sec
Q9Y630
resolver
amino_acid_sequence
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP
uniprot
proteins
disease_involvement
DISEASE: Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:19716112, ECO:0000269|PubMed:20186852}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.; DISEASE: 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:0000269|PubMed:18179901, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:18179888, ECO:0000269|PubMed:19687455}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [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:0000269|PubMed:18274675, ECO:0000269|PubMed:19171836, ECO:0000269|PubMed:19181672}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [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. {ECO:0000269|PubMed:18274675, ECO:0000269|PubMed:19171836, ECO:0000269|PubMed:19181672, ECO:0000269|PubMed:23169582}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Uruguay faciocardiomusculoskeletal syndrome (FCMSU) [MIM:300280]: An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. {ECO:0000269|PubMed:26933038}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May have an involvement in muscle development or hypertrophy.
uniprot
proteins
mass_dalton
36263
uniprot
proteins
pubmed
10352231
uniprot
proteins
pubmed
10480922
uniprot
proteins
pubmed
10524257
uniprot
proteins
pubmed
11400158
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18179888
uniprot
proteins
pubmed
18179901
uniprot
proteins
pubmed
18274675
uniprot
proteins
pubmed
19171836
uniprot
proteins
pubmed
19181672
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19687455
uniprot
proteins
pubmed
19716112
uniprot
proteins
pubmed
20186852
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23169582
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
26933038
uniprot
proteins
pubmed
27234031
uniprot
proteins
pubmed
31554973
uniprot
proteins
pubmed
33055253
uniprot
proteins
pubmed
7626119
uniprot
proteins
pubmed
8753811
uniprot
proteins
pubmed
9714789
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
uniprot
proteins