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FHL1 Gene

protein-coding   GIFtS: 65
GCID: GC0XP135229

Four And A Half LIM Domains 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Four And A Half LIM Domains 11 2     FHL1B2 5
SLIM12 3 5     KYOT2 5
LIM Protein SLIMMER1 2     XMPMA2 5
Skeletal Muscle LIM-Protein 12 3     Four-And-A-Half LIM Domains 11
FHL-12 3     FLH1A2
SLIM2 3     SLIMMER2
SLIM-12 3     Four And A Half LIM Domains Protein 12
FHL1A2 5     Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 12

External Ids:    HGNC: 37021   Entrez Gene: 22732   Ensembl: ENSG000000222677   OMIM: 3001635   UniProtKB: Q136423   

Export aliases for FHL1 gene to outside databases

Previous GC identifers: GC0XP129801 GC0XP132075 GC0XP133174 GC0XP133935 GC0XP134955 GC0XP135057 GC0XP124502


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fhl1-related myofibrillar myopathy, and childhood-onset reducing body myopathy, x-linked. GO annotations related to this gene include ion channel binding. An important paralog of this gene is LIMS1.

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642
Function: May have an involvement in muscle development or hypertrophy

Gene Wiki entry for FHL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FHL1 gene promoter:
         TBP   TFIID   AP-2beta   MyoD   AP-2gamma   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FHL1 promoter sequence
   Search Chromatin IP Primers for FHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FHL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq26   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

FHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FHL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP135229:  view genomic region     (about GC identifiers)

Start:
135,228,861 bp from pter      End:
135,293,518 bp from pter
Size:
64,658 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642 (See protein sequence)
Recommended Name: Four and a half LIM domains protein 1  
Size: 323 amino acids; 36263 Da
Developmental stage: Elevated levels during postnatal muscle growth
Sequence caution: Sequence=AAH88369.1; Type=Erroneous initiation; Sequence=CAI41055.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for FHL1:
1X63 (3D)        2CUP (3D)        2CUR (3D)        2EGQ (3D)    
Secondary accessions: B7Z5T4 B7Z793 O95212 Q13230 Q13645 Q5JXI7 Q5M7Y6 Q6IB30 Q9NZ40 Q9UKZ8
Q9Y630
Alternative splicing: 5 isoforms:  Q13642-2   Q13642-1   Q13642-3   Q13642-4   Q13642-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FHL1: NX_Q13642

Explore proteomics data for FHL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys106, Lys118
  • Modification sites at PhosphoSitePlus

  • See FHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001153171.1  NP_001153172.1  NP_001153173.1  NP_001153174.1  NP_001153175.1  NP_001153176.1  NP_001161291.1  NP_001440.2  

    ENSEMBL proteins: 
     ENSP00000359724   ENSP00000391779   ENSP00000389920   ENSP00000408038   ENSP00000413798  
     ENSP00000412642   ENSP00000414604   ENSP00000071281   ENSP00000359717   ENSP00000359710  
     ENSP00000359708   ENSP00000437673   ENSP00000444815   ENSP00000443333   ENSP00000377709  
     ENSP00000377710  

    FHL1 Human Recombinant Protein Products:

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    Novus Biologicals FHL1 Proteins
    Novus Biologicals FHL1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FHL1

    FHL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FHL1
    R&D Systems Antibodies for FHL1
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    Abcam antibodies for FHL1
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    LSBio Antibodies in human, mouse, rat for FHL1

    FHL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FHL1
    Cloud-Clone Corp. CLIAs for FHL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q13642

    ProtoNet protein and cluster: Q13642

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642
    Similarity: Contains 3 LIM zinc-binding domains


    FHL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FHL1_HUMAN, Q13642
    Function: May have an involvement in muscle development or hypertrophy

         Genatlas biochemistry entry for FHL1:
    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.

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI19401155
    GO:0008270zinc ion binding IEA--
    GO:0044325ion channel binding IPI18281375
         
    FHL1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fhl1):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  nervous system 
     other  vision/eye 

    FHL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FHL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FHL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FHL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FHL1

    miRNA
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    miRTarBase miRNAs that target FHL1:
    hsa-mir-335-5p (MIRT019004)

    Block miRNA regulation of human, mouse, rat FHL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FHL1 (see all 27):
    hsa-miR-194* hsa-miR-100* hsa-miR-3607-3p hsa-miR-429 hsa-miR-1197 hsa-miR-509-5p hsa-miR-1205 hsa-miR-339-5p
    SwitchGear 3'UTR luciferase reporter plasmidFHL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FHL1
    Predesigned siRNA for gene silencing in human, mouse, rat FHL1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for FHL1

    Clone
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    OriGene clones in human, mouse for FHL1 (see all 45)
    OriGene ORF clones in mouse, rat for FHL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): FHL1 (NM_001449)
    Sino Biological Human cDNA Clone for FHL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FHL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHL1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FHL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FHL1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FHL1_HUMAN, Q13642: Isoform 1: Cytoplasm
    FHL1_HUMAN, Q13642: Isoform 3: Cytoplasm. Nucleus
    FHL1_HUMAN, Q13642: Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is
    cytosolic in differentiated myotubes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    plasma membrane4
    cytoskeleton1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IDA--

    FHL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FHL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33


    1 BioSystems Pathway for FHL1
        Delta-Notch Signaling Pathway



        Pathway & Disease-focused RT2 Profiler PCR Array including FHL1: 
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FHL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FHL1 (Q136421, 2, 3 ENSP000003597244) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2CBP627141, 2, ENSP000002211384EBI-8477209,EBI-1044367 MINT-8044739 MINT-8044769 MINT-8044778 STRING: ENSP00000221138
    TXNIPQ9H3M72, 3, ENSP000003583234MINT-8255437 I2D: score=2 STRING: ENSP00000358323
    DBN1Q166432, 3MINT-8255377 I2D: score=2 
    DEAF1O753982, 3MINT-8255388 I2D: score=2 
    EEDO755302, 3MINT-8255401 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003254regulation of membrane depolarization IDA18281375
    GO:0007517muscle organ development NAS7626119
    GO:0009887organ morphogenesis NAS7626119
    GO:0010972negative regulation of G2/M transition of mitotic cell cycle IDA--
    GO:0030154cell differentiation IEA--

    FHL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FHL1

    2 Novoseek inferred chemical compound relationships for FHL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 41 6 9714789 (2), 19181672 (1), 8753811 (1), 10524257 (1)
    atp 0 1 16100062 (1)



    FHL1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FHL1 gene (8 alternative transcripts): 
    NM_001159699.1  NM_001159700.1  NM_001159701.1  NM_001159702.2  NM_001159703.1  NM_001159704.1  NM_001167819.1  NM_001449.4  

    Unigene Cluster for FHL1:

    Four and a half LIM domains 1
    Hs.435369  [show with all ESTs]
    Unigene Representative Sequence: NM_001159704
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370690 ENST00000420362 ENST00000458357 ENST00000452016 ENST00000434885
    ENST00000456445 ENST00000449474 ENST00000345434 ENST00000370683(uc011mwb.1 uc004ezp.2)
    ENST00000370676 ENST00000477204 ENST00000370674 ENST00000477080 ENST00000539015(uc011mwa.1 uc004ezr.2)
    ENST00000535737(uc011mvy.1) ENST00000543669(uc004ezn.2) ENST00000394153(uc010nrz.2 uc022ceu.1)
    ENST00000394155(uc004ezo.3 uc004ezm.2 uc004ezl.2 uc004ezq.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat FHL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FHL1 (see all 27):
    hsa-miR-194* hsa-miR-100* hsa-miR-3607-3p hsa-miR-429 hsa-miR-1197 hsa-miR-509-5p hsa-miR-1205 hsa-miR-339-5p
    SwitchGear 3'UTR luciferase reporter plasmidFHL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FHL1
    Clone
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    OriGene ORF clones in mouse, rat for FHL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): FHL1 (NM_001449)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHL1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FHL1
      QuantiTect SYBR Green Assays in human, mouse, rat FHL1
      QuantiFast Probe-based Assays in human, mouse, rat FHL1

    Additional mRNA sequence: 

    AF063002.1 AF098518.1 AF220153.1 AK091702.1 AK094024.1 AK122708.1 AK223299.1 AK289411.1 
    AK297124.1 AK299379.1 AK299381.1 AK299450.1 AK300966.1 AK301642.1 AK304680.1 BC010998.2 
    BC088369.1 CR456974.1 NR_027621.1 U29538.1 U60115.1 U60118.1 

    Selected DOTS entries (see all 58):

    DT.95269474  DT.448206  DT.95269469  DT.99951140  DT.99963333  DT.100886590  DT.100765946  DT.121319845 
    DT.100886585  DT.101985306  DT.100886595  DT.100886591  DT.121319872  DT.121319900  DT.100886594  DT.100886596 
    DT.100886604  DT.100042169  DT.100662903  DT.75124818  DT.95269473  DT.95291724  DT.100886601  DT.95269455 

    Selected AceView cDNA sequences (see all 732):

    N29900 AA039540 CB269169 CR605478 AI080025 F21736 U29538 BP374085 
    BM699940 BQ933784 N45005 AA665830 BP341911 BQ574026 BQ182446 AK094024 
    F33893 T32638 CF593556 BF934621 BP344719 AA020946 AI653552 CR621059 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FHL1 (see all 39)    About this scheme

    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:                                                                                                                                                  -     -   

    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:  -     -     -     -                                                                                         -     -     -                                 

    ExUns: 23d ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c · 26d · 26e · 26f ^ 27a · 27b · 27c ^ 28a · 28b · 28c · 28d · 28e
    SP1:                                                              -                                             
    SP2:                                                              -     -     -                                 
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                              -     -     -                                 


    ECgene alternative splicing isoforms for FHL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGACAAT
    FHL1 Expression
    About this image


    FHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Ovary (Reproductive System)
             Mature follicles
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
    FHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FHL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435369

    UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including FHL1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FHL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fhl11 , 5 four and a half LIM domains 11, 5 93.68(n)1
    94.83(a)1
      X (30.06 cM)5
    141991  NM_001077362.11  NP_001070830.11 
     567317875 
    chicken
    (Gallus gallus)
    Aves FHL11 four and a half LIM domains 1 74.94(n)
    70.69(a)
      770787  XM_001234113.3  XP_001234114.2 
    lizard
    (Anolis carolinensis)
    Reptilia FHL16
    four and a half LIM domains 1
    62(a)
    1 ↔ 1
    GL343562.1(5566-19168)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.19502 Xenopus laevis transcribed sequence with moderate similarity to protein pirG01884 (H.sapiens) G01884 LIM protein FHL-1, cardiac - human less 77.11(n)    CB201255.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fhl2 four and a half LIM domains 73.34(n)   387528  BC053279.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F25H5.1b3 LIM domain containing proteins (5
    domains)
    43(a)   I(9191132-9200886)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FHL1 gene
    LIMS12  PDLIM72  LIMS3L2  FHL32  FHL52  LDB32  LPXN2  ENSG000002572072  
    LIMS32  TGFB1I12  PDLIM52  PXN2  LIMS22  FHL22  
    9 SIMAP similar genes for FHL1 using alignment to 8 protein entries:     FHL1_HUMAN (see all proteins):
    AAG11    FHL2    FHL5    DKFZp686P2249    FHL3    LHX4
    LHX1    PRICKLE2    LMO3

    FHL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FHL1
    PGOHUM00000237858


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FHL1 (see all 868)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0460024
    Myopathy, reducing body, X-linked, early-onset, severe (RBM)4--see VAR_0460022 C Y mis40--------
    VAR_0460014
    Myopathy, reducing body, X-linked, early-onset, severe (RBM)4--see VAR_0460012 C R mis40--------
    VAR_0460004
    Myopathy, reducing body, X-linked, early-onset, severe (RBM)4--see VAR_0460002 C F mis40--------
    VAR_0459994
    Myopathy, reducing body, X-linked, early-onset, severe (RBM)4--see VAR_0459992 H Y mis40--------
    VAR_0426054
    Myopathy, X-linked, with postural muscle atrophy (XMPMA)4--see VAR_0426052 C W mis40--------
    VAR_0426034
    Scapuloperoneal myopathy, X-linked dominant (SPM)4--see VAR_0426032 W S mis40--------
    rs2008212011,2
    C--124522975(+) AGAAA-/CAGT  
            
    GAGTT
    2 -- us2k10--------
    rs1405321951,2
    C--124522976(+) GAAAC-/AGTG  
            
    AGTTC
    2 -- us2k10--------
    rs59039101,2
    C--124522979(+) ACAGT-/GAGT  
            
    TCTAT
    2 -- us2k10--------
    rs1924062601,2
    --135184832(+) TGGCTA/GTTTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FHL1 (135228861 - 135293518 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FHL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7108CNV Loss18451855

    Human Gene Mutation Database (HGMD): FHL1
    Locus Specific Mutation Databases (LSDB): FHL1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for FHL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300163   
    OMIM disorders: 300695  300696  300717  300718  
    UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642
  • 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. 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. 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. 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

  • Selected diseases for FHL1 (see all 46):    
    About MalaCards
    fhl1-related myofibrillar myopathy    childhood-onset reducing body myopathy, x-linked    x-linked dominant scapuloperoneal myopathy    fhl1-related emery-dreifuss muscular dystrophy, x-linked
    tick-borne relapsing fever    emery-dreifuss muscular dystrophy 6, x-linked    myopathy with postural muscle atrophy, x-linked    early-onset severe reducing body myopathy, x-linked
    beriberi    relapsing fever    age-related macular degeneration 4    emery-dreifuss muscular dystrophy, x-linked
    dense deposit disease    cfh-related atypical hemolytic-uremic syndrome    hemophagocytic lymphohistiocytosis    emery-dreifuss muscular dystrophy
    membranoproliferative glomerulonephritis    myofibrillar myopathy    rigid spine syndrome    retinal drusen


    FHL1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FHL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathy 52.4 2 19181672 (3), 19075112 (3), 18179901 (2), 18952429 (1) (see all 7)
    hypertrophy 30.5 3 19687455 (1), 10860860 (1), 19075112 (1)

    Genetic Association Database (GAD): FHL1
    Human Genome Epidemiology (HuGE) Navigator: FHL1 (208 documents)

    Export disorders for FHL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FHL1 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with FHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal mapping, tissue distribution and cDNA sequence of four- and-a-half LIM domain protein 1 (FHL1). (PubMed id 9714789)1, 2, 3, 9 Lee S.M.Y.... Lee C.Y. (Gene 1998)
    2. Slim defines a novel family of LIM-proteins expressed in skeletal muscle. (PubMed id 8753811)1, 2, 3, 9 Morgan M.J. and Madgwick A.J.A. (Biochem. Biophys. Res. Commun. 1996)
    3. Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1. (PubMed id 10524257)1, 2, 9 Lee S.M.Y.... Lee C.-Y. (Gene 1999)
    4. Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1). (PubMed id 11400158)1, 2, 9 Ng E.K.O.... Fung K.-P. (J. Cell. Biochem. 2001)
    5. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. (PubMed id 18274675)1, 2, 9 Schessl J.... Boennemann C.G. (J. Clin. Invest. 2008)
    6. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (PubMed id 18179901)1, 2, 9 Quinzii C.M.... Hirano M. (Am. J. Hum. Genet. 2008)
    7. Variations in the four and a half LIM domains 1 gene (FHL1) are associated with fasting insulin and insulin sensitivity responses to regular exercise. (PubMed id 17589823)1, 4, 9 Teran-Garcia M....Bouchard C. (Diabetologia 2007)
    8. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. (PubMed id 18179888)1, 2 Windpassinger C.... Quasthoff S. (Am. J. Hum. Genet. 2008)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2273 HGNC: 3702 AceView: FHL1 Ensembl:ENSG00000022267 euGenes: HUgn2273
    ECgene: FHL1 H-InvDB: FHL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FHL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FHL1 gene:
    Search GeneIP for patents involving FHL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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