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Aliases for FHL1 Gene

Aliases for FHL1 Gene

  • Four And A Half LIM Domains 1 2 3
  • SLIM1 3 4 6
  • Skeletal Muscle LIM-Protein 1 3 4
  • LIM Protein SLIMMER 2 3
  • SLIM-1 3 4
  • FHL1A 3 6
  • FHL1B 3 6
  • XMPMA 3 6
  • FHL-1 3 4
  • Slim 3 4
  • KYOT 3 6
  • Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 1 3
  • Four And A Half LIM Domains Protein 1 3
  • Four-And-A-Half LIM Domains 1 2
  • SLIMMER 3
  • FLH1A 3

External Ids for FHL1 Gene

Previous GeneCards Identifiers for FHL1 Gene

  • GC0XP129801
  • GC0XP132075
  • GC0XP133174
  • GC0XP133935
  • GC0XP134955
  • GC0XP135057
  • GC0XP135229
  • GC0XP124502

Summaries for FHL1 Gene

Entrez Gene Summary for FHL1 Gene

  • This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

GeneCards Summary for FHL1 Gene

FHL1 (Four And A Half LIM Domains 1) is a Protein Coding gene. Diseases associated with FHL1 include hemophagocytic lymphohistiocytosis, familial, 1 and scapuloperoneal myopathy, x-linked dominant. Among its related pathways are Notch signaling pathway (KEGG). GO annotations related to this gene include ion channel binding. An important paralog of this gene is LDB3.

UniProtKB/Swiss-Prot for FHL1 Gene

  • May have an involvement in muscle development or hypertrophy

Gene Wiki entry for FHL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHL1 Gene

Genomics for FHL1 Gene

Regulatory Elements for FHL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FHL1 Gene

Start:
136,146,702 bp from pter
End:
136,211,359 bp from pter
Size:
64,658 bases
Orientation:
Plus strand

Genomic View for FHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FHL1 Gene

Proteins for FHL1 Gene

  • Protein details for FHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13642-FHL1_HUMAN
    Recommended name:
    Four and a half LIM domains protein 1
    Protein Accession:
    Q13642
    Secondary Accessions:
    • B7Z5T4
    • B7Z793
    • O95212
    • Q13230
    • Q13645
    • Q5JXI7
    • Q5M7Y6
    • Q6IB30
    • Q9NZ40
    • Q9UKZ8
    • Q9Y630

    Protein attributes for FHL1 Gene

    Size:
    323 amino acids
    Molecular mass:
    36263 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH88369.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI41055.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FHL1 Gene

    Alternative splice isoforms for FHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FHL1 Gene

Proteomics data for FHL1 Gene at MOPED

Post-translational modifications for FHL1 Gene

  • Ubiquitination at Lys106 and Lys118
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for FHL1 Gene

Domains for FHL1 Gene

Protein Domains for FHL1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q13642

UniProtKB/Swiss-Prot:

FHL1_HUMAN :
  • Q13642
Domain:
  • Contains 3 LIM zinc-binding domains.
genes like me logo Genes that share domains with FHL1: view

No data available for Gene Families for FHL1 Gene

Function for FHL1 Gene

Molecular function for FHL1 Gene

GENATLAS Biochemistry:
four and a half LIM domain protein 1,expressed in skeletal muscle, heart and other tissues,with an alternatively spliced form FHL1B,FHL1B differing from FHL1 by the bipartite nuclear localization signal (NLS) and a possible RBP-J binding region at the C terminus,with isoforms FHL1,FHL1B,(SLIM1) localizing at focal adhesions and SLIM3 (slimmer) in the nucleus of myoblasts and cytoplasm of myotubes,sugesting distinct roles in the cytoskeleton and in nuclear-cytoplasmic communication,specifically expressed in the brain,localized in the nucleus and probably related to neural differentiation and certain fragile X syndrome.
UniProtKB/Swiss-Prot Function:
May have an involvement in muscle development or hypertrophy

Gene Ontology (GO) - Molecular Function for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19401155
GO:0008270 zinc ion binding IEA --
GO:0044325 ion channel binding IPI 18281375
genes like me logo Genes that share ontologies with FHL1: view
genes like me logo Genes that share phenotypes with FHL1: view

Animal Model Products

miRNA for FHL1 Gene

miRTarBase miRNAs that target FHL1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FHL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FHL1 Gene

Localization for FHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHL1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FHL1 Gene COMPARTMENTS Subcellular localization image for FHL1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21702045
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with FHL1: view

Pathways for FHL1 Gene

SuperPathways for FHL1 Gene

genes like me logo Genes that share pathways with FHL1: view

Pathways by source for FHL1 Gene

1 BioSystems pathway for FHL1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003254 regulation of membrane depolarization IDA 18281375
GO:0007517 muscle organ development NAS 7626119
GO:0009887 organ morphogenesis NAS 7626119
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle IDA 21702045
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with FHL1: view

Compounds for FHL1 Gene

(2) Novoseek inferred chemical compound relationships for FHL1 Gene

Compound -log(P) Hits PubMed IDs
zinc 41 5
atp 0 1
genes like me logo Genes that share compounds with FHL1: view

Transcripts for FHL1 Gene

Unigene Clusters for FHL1 Gene

Four and a half LIM domains 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FHL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FHL1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e · 12f ^ 13 ^ 14a ·
SP1: - -
SP2: - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - -
SP7: - - - - - - - - - - - - - - - -
SP8:
SP9: - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12:
SP13:
SP14: - - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - -
SP20:
SP21: - -
SP22: - - - - - - - - - - - - - - - - - -
SP23: - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - - - - - - -
SP26:
SP27:
SP28:
SP29: - - - - - - - - - - - - - - - - - - - -
SP30: - - - - - - - -
SP31: - - - - - - - - - - - - - - - - - - - - - -
SP32: - - - - - - - - - - - - - - - - -
SP33: -
SP34:
SP35:
SP36:
SP37:
SP38:
SP39:

ExUns: 14b · 14c · 14d ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d · 17e ^ 18 ^ 19a · 19b · 19c · 19d ^ 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - - - -
SP15: - - - - - - -
SP16: - - - -
SP17: - - - - - - -
SP18: - - - - - - -
SP19: - - - - - - -
SP20: - - -
SP21: - - - - - - - - - -
SP22: - - - - - - - - - - - - - -
SP23: - - - - - -
SP24: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - -
SP26: - - - - - - - - - -
SP27: - - - - - -
SP28: - - - - - - - - - - - - - - - - - - - - -
SP29: - - - -
SP30: - - - -
SP31: - - - - - - -
SP32: - - - -
SP33: - - - - - - -
SP34: - - - - -
SP35: - - - - - -
SP36: - - -
SP37:
SP38:
SP39:

ExUns: 23d ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c · 26d · 26e · 26f ^ 27a · 27b · 27c ^ 28a · 28b · 28c · 28d · 28e
SP1: -
SP2: - - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8: - - -
SP9:
SP10:
SP11: - - - - - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - - - - -
SP25:
SP26:
SP27:
SP28: - - - - -
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
SP36: - - - - - - - - -
SP37: -
SP38:
SP39:

Relevant External Links for FHL1 Gene

GeneLoc Exon Structure for
FHL1
ECgene alternative splicing isoforms for
FHL1

Expression for FHL1 Gene

mRNA expression in normal human tissues for FHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FHL1 Gene

This gene is overexpressed in Muscle - Skeletal (13.9).

Protein differential expression in normal tissues for FHL1 Gene

This gene is overexpressed in Cardia (10.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FHL1 Gene

SOURCE GeneReport for Unigene cluster for FHL1 Gene Hs.435369

mRNA Expression by UniProt/SwissProt for FHL1 Gene

Q13642-FHL1_HUMAN
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.
genes like me logo Genes that share expressions with FHL1: view

Expression partners for FHL1 Gene

In Situ Assay Products

Orthologs for FHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FHL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FHL1 35
  • 93.79 (n)
  • 95.86 (a)
FHL1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FHL1 35
  • 95.58 (n)
  • 96.76 (a)
FHL1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fhl1 35
  • 93.68 (n)
  • 94.83 (a)
Fhl1 16
Fhl1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fhl1 35
  • 93.91 (n)
  • 95.17 (a)
oppossum
(Monodelphis domestica)
Mammalia FHL1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FHL1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHL1 35
  • 74.94 (n)
  • 70.69 (a)
FHL1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FHL1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fhl1 35
  • 77.59 (n)
  • 79.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1950 35
zebrafish
(Danio rerio)
Actinopterygii fhl 35
fhl1a 35
  • 70.11 (n)
  • 67.59 (a)
fhl1a 36
  • 57 (a)
OneToMany
fhl1b 36
  • 51 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8766 35
worm
(Caenorhabditis elegans)
Secernentea F25H5.1b 37
  • 43 (a)
lim-9 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for FHL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FHL1 Gene

ENSEMBL:
Gene Tree for FHL1 (if available)
TreeFam:
Gene Tree for FHL1 (if available)

Paralogs for FHL1 Gene

Pseudogenes.org Pseudogenes for FHL1 Gene

genes like me logo Genes that share paralogs with FHL1: view

Variants for FHL1 Gene

Sequence variations from dbSNP and Humsavar for FHL1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2746 -- 136,211,185(-) TATGT(C/G)ATATA utr-variant-3-prime, nc-transcript-variant
rs9018 -- 136,210,923(+) CCTAC(A/G)GAAGT utr-variant-3-prime, nc-transcript-variant
rs725584 -- 136,145,456(+) ttaca(C/T)tggaa upstream-variant-2KB
rs926904 -- 136,189,086(+) GTGCT(C/T)ATAAG intron-variant
rs926905 -- 136,189,152(+) AATTA(G/T)CCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FHL1 Gene

Variant ID Type Subtype PubMed ID
nsv7108 CNV Loss 18451855

Relevant External Links for FHL1 Gene

HapMap Linkage Disequilibrium report
FHL1
Human Gene Mutation Database (HGMD)
FHL1
Locus Specific Mutation Databases (LSDB)
FHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHL1 Gene

Disorders for FHL1 Gene

(4) OMIM Diseases for FHL1 Gene (300163)

UniProtKB/Swiss-Prot

FHL1_HUMAN
  • 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}. 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:0000269 PubMed: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:0000269 PubMed: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.

(2) Novoseek inferred disease relationships for FHL1 Gene

Disease -log(P) Hits PubMed IDs
myopathy 52.4 12
hypertrophy 30.5 3

Relevant External Links for FHL1

Genetic Association Database (GAD)
FHL1
Human Genome Epidemiology (HuGE) Navigator
FHL1
genes like me logo Genes that share disorders with FHL1: view

No data available for University of Copenhagen DISEASES and Genatlas for FHL1 Gene

Publications for FHL1 Gene

  1. Slim defines a novel family of LIM-proteins expressed in skeletal muscle. (PMID: 8753811) Morgan M.J. … Madgwick A.J.A. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 23
  2. Chromosomal mapping, tissue distribution and cDNA sequence of four- and-a-half LIM domain protein 1 (FHL1). (PMID: 9714789) Lee S.M.Y. … Lee C.Y. (Gene 1998) 2 3 4 23
  3. Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1. (PMID: 10524257) Lee S.M.Y. … Lee C.-Y. (Gene 1999) 3 4 23
  4. Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1). (PMID: 11400158) Ng E.K.O. … Fung K.-P. (J. Cell. Biochem. 2001) 3 4 23
  5. Variations in the four and a half LIM domains 1 gene (FHL1) are associated with fasting insulin and insulin sensitivity responses to regular exercise. (PMID: 17589823) Teran-Garcia M. … Bouchard C. (Diabetologia 2007) 3 23 48

Products for FHL1 Gene

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