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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LHX1 Gene

protein-coding   GIFtS: 60
GCID: GC17P035294

LIM Homeobox 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)
About This Section

Aliases
LIM Homeobox 11 2     LIM Homeobox Protein 12 3
LIM12 3 5     LIM/Homeobox Protein Lhx12
Homeobox Protein Lim-12 3     hLim-13
LIM-12 3     

External Ids:    HGNC: 65931   Entrez Gene: 39752   Ensembl: ENSG000001321307   OMIM: 6019995   UniProtKB: P487423   

Export aliases for LHX1 gene to outside databases

Previous GC identifers: GC17P034678 GC17P037247 GC17P035025 GC17P035490 GC17P032368 GC17P031230


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LHX1 Gene:
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich
zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and
urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder
characterized by anomalies in the female genital tract. (provided by RefSeq, Dec 2010)

GeneCards Summary for LHX1 Gene: 
LHX1 (LIM homeobox 1) is a protein-coding gene. Diseases associated with LHX1 include nephroblastoma, and mayer-rokitansky-kuster-hauser syndrome. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ISL1.

UniProtKB/Swiss-Prot: LHX1_HUMAN, P48742
Function: Potential transcription factor. May play a role in early mesoderm formation and later in lateral
mesoderm differentiation and neurogenesis

Gene Wiki entry for LHX1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LHX1 gene promoter:
         c-Fos   E2F   AP-1   p53   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLHX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LHX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LHX1


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

LHX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHX1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P035294:  view genomic region     (about GC identifiers)

Start:
35,294,084 bp from pter      End:
35,301,917 bp from pter
Size:
7,834 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LHX1_HUMAN, P48742 (See protein sequence)
Recommended Name: LIM/homeobox protein Lhx1  
Size: 406 amino acids; 44808 Da
Subunit: Interacts with LDB1 via the tandem LIM domains (By similarity)
Subcellular location: Nucleus (Probable)
Secondary accessions: Q3MIW0

Explore the universe of human proteins at neXtProt for LHX1: NX_P48742

Explore proteomics data for LHX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48742

  • LHX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LHX1 Protein Expression
    REFSEQ proteins: NP_005559.2  
    ENSEMBL proteins: 
     ENSP00000254457  

    Human Recombinant Protein Products for LHX1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for LHX1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for LHX1
    GenScript Custom Purified and Recombinant Proteins Services for LHX1
    Novus Biologicals LHX1 Protein
    Novus Biologicals LHX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LHX1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0043234protein complex ISS--

    LHX1 for ontologies           About GeneDecksing



    LHX1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of LHX1
    R&D Systems Antibodies for LHX1 (LIM1)
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    Novus Biologicals LHX1 Antibodies
    Abcam antibodies for LHX1
    Cloud-Clone Corp. Antibodies for LHX1 
    ThermoFisher Antibodies for LHX1
    LSBio Antibodies in human, mouse, rat for LHX1 

    Assay Products for LHX1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LHX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LHX1 
    Cloud-Clone Corp. CLIAs for LHX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    LIM: Homeoboxes / LIM class

    4 InterPro protein domains:
     IPR001781 Znf_LIM
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P48742

    ProtoNet protein and cluster: P48742

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB001781 Zn-binding protein


    UniProtKB/Swiss-Prot: LHX1_HUMAN, P48742
    Domain: The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an
    activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the
    homeobox (By similarity)
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 2 LIM zinc-binding domains


    LHX1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LHX1_HUMAN, P48742
    Function: Potential transcription factor. May play a role in early mesoderm formation and later in lateral
    mesoderm differentiation and neurogenesis

         Genatlas biochemistry entry for LHX1:
    LIM motif containing protein kinase,putative transcription factor,expressed in brain,thymus and tonsillar
    tissue,involved in transcriptional regulation of neural and lymphoid cell

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001071nucleic acid binding transcription factor activity ----
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0003714transcription corepressor activity ISS--
    GO:0005515protein binding ----
         
    LHX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LHX1:
     Increased circadian period len 

         12 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Lhx1):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  mortality/aging  nervous system  no phenotypic analysis  normal 
     renal/urinary system  reproductive system 

    LHX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lhx1tm1Bhr for LHX1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LHX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LHX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LHX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LHX1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX1
    8/81 QIAGEN miScript miRNA Assays for microRNAs that regulate LHX1 (see all 81):
    hsa-miR-4272 hsa-miR-1224-3p hsa-miR-485-3p hsa-miR-128 hsa-miR-200a hsa-miR-1260b hsa-miR-30d hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LHX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for LHX1
    Sirion Biotech Customized adenovirus for overexpression of LHX1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for LHX1 (see all 7)
    OriGene ORF clones in mouse, rat for LHX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LHX1 (NM_005568)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX1
    Sirion Biotech Customized lentivirus for stable overexpression of LHX1 
                         Customized lentivirus expression plasmids for stable overexpression of LHX1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LHX1
    LifeMap BioReagents: cell lines associated with LHX1: PureStem 7SMOO32, NCr-fac & Meso Progenitor,
    PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LHX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2Neural Crest Differentiation
    Neural Crest Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for LHX1
        Transcription factors in neurogenesis


    1 BioSystems Pathway for LHX1
        Neural Crest Differentiation



    LHX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LHX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for LHX1 (P487423 ENSP000002544574) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OTX2P322433, ENSP000003438194I2D: score=2 STRING: ENSP00000343819
    ISL1P613713, ENSP000002306584I2D: score=1 STRING: ENSP00000230658
    LDB1Q86U703, ENSP000003924664I2D: score=1 STRING: ENSP00000392466
    LDB2O436793, ENSP000003067724I2D: score=1 STRING: ENSP00000306772
    LHX3Q9UBR43, ENSP000003608114I2D: score=1 STRING: ENSP00000360811
    About this table

    Gene Ontology (GO): 5/72 biological process terms (GO ID links to tree view) (see all 72):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001655urogenital system development ISS--
    GO:0001656metanephros development ----
    GO:0001657ureteric bud development ISS--
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001702gastrulation with mouth forming second ISS--

    LHX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LHX1

    Search CenterWatch for drugs/clinical trials and news about LHX1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LHX1 gene: 
    NM_005568.3  

    Unigene Cluster for LHX1:

    LIM homeobox 1
    Hs.443727  [show with all ESTs]
    Unigene Representative Sequence: NM_005568
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559335 ENST00000254457(uc002hnh.2) ENST00000557970 ENST00000559572(uc010cux.1)
    ENST00000589584
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX1
    8/81 QIAGEN miScript miRNA Assays for microRNAs that regulate LHX1 (see all 81):
    hsa-miR-4272 hsa-miR-1224-3p hsa-miR-485-3p hsa-miR-128 hsa-miR-200a hsa-miR-1260b hsa-miR-30d hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LHX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX1
    Clone
    Products:
         
    OriGene clones in human, mouse for LHX1 (see all 7)
    OriGene ORF clones in mouse, rat for LHX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LHX1 (NM_005568)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX1
    Sirion Biotech Customized lentivirus for stable overexpression of LHX1 
                         Customized lentivirus expression plasmids for stable overexpression of LHX1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for LHX1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LHX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LHX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX1

    Additional mRNA sequence: 

    AK298253.1 AK308646.1 BC020470.1 BC036856.1 BC101674.1 BC111936.1 U14755.1 

    4 DOTS entries:

    DT.106597  DT.65286402  DT.40304256  DT.424491 

    24/39 AceView cDNA sequences (see all 39):

    AI566122 BU734212 AI827387 AW516878 BC020470 NM_005568 BF115672 AI971941 
    AW294968 AW170160 AI990607 AI360476 BF512551 BE876326 BF507477 BE962878 
    AW028650 BE612590 BC036856 AI521796 AW449518 AI971931 AA642714 AW024720 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LHX1 expression in normal human tissues (normalized intensities)      LHX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGGCCGAGG
    LHX1 Expression
    About this image


    LHX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Kidney (Urinary System)    fully expand to see all 21 entries
             Distal Renal Vesicle Cells Renal Vesicle
             Proximal Tubule
             mK3
             Podocalyxin+, CD24+, GCTM2- ( Derivation and sorting of renal cells from human embryonic...
             Human Renal Epithelial Cells (HREpiC)   
             renal vesicle e12.5   
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 10 entries
             Lateral Neurons of the LMC Lumbar Lateral Motor Division
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 10 entries
             dI2 Interneurons dP2 Neural Domain
             Telencephalon
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 6 entries
             Mesoderm Progenitor Cells Posterior Primitive Streak
             Mesendoderm-like cells ( Generation of mesendoderm and definitive endoderm cells...

    See LHX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LHX1

    SOURCE GeneReport for Unigene cluster: Hs.443727

    UniProtKB/Swiss-Prot: LHX1_HUMAN, P48742
    Tissue specificity: Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic
    myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines

        SABiosciences Expression via Pathway-Focused PCR Array including LHX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LHX1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lhx11 , 5 LIM homeobox protein 11, 5 88.67(n)1
    99.51(a)1
      11 (51.31 cM)5
    168691  NM_008498.21  NP_032524.11 
     845179775 
    chicken
    (Gallus gallus)
    Aves LHX11 LIM homeobox 1 85.88(n)
    94.33(a)
      396381  NM_205413.1  NP_990744.1 
    lizard
    (Anolis carolinensis)
    Reptilia LHX16
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343439.1(342210-360702)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.12262 X.laevis Xlim-1 mRNA for LIM domain-containing homeobox more 80.92(n)    X63889.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lhx1a2 LIM homeobox 1a 79.19(n)   30463  L37802.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lim11 , 3 leg disc proximal/distal pattern
    formation transcription more3
    CG11354-PA1
    49(a)3
    58.4(n)1
    54.93(a)1
      318131  NM_132277.21  NP_572505.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-111 , 3 LIM domain containing proteins (2
    domains), homeobox more3
    Protein LIN-111
    52(a)
    (best of 2)3
    49.74(n)1
    48.89(a)1
      I(10256239-10258192)3
    1728931  NM_060295.31  NP_492696.11 


    ENSEMBL Gene Tree for LHX1 (if available)
    TreeFam Gene Tree for LHX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LHX1 gene
    ISL12  LMO22  LHX22  LHX92  LMX1B2  LHX52  LMO12  LHX62  
    LMO42  LMX1A2  LMO32  LHX32  LHX42  LHX82  ISL22  
    18 SIMAP similar genes for LHX1 using alignment to 3 protein entries:     LHX1_HUMAN (see all proteins):
    LHX5    LHx4    LHX4    LMO1    LHX8    LMO3
    POU6F1    LMO2    LMO4    ISL2    LHX6    LMX1B
    ISL1    LHX2    LHX9    LMX1A    LHX3    FHL1

    LHX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LHX1
    PGOHUM00000262125


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/202 SNPs in LHX1 are shown (see all 202)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs771863761,2
    C,F--35292781(+) GGCCAA/CATGAG 1 -- us2k12Minor allele frequency- C:0.16WA EA 238
    rs1452007561,2
    --35292798(+) TAGCAC/TCCCCT 1 -- us2k10--------
    rs1876320731,2
    --35293017(+) AAATAA/GGCCCC 1 -- us2k10--------
    rs782600021,2
    C,F--35293059(+) GCGGGA/CTTAGG 1 -- us2k12Minor allele frequency- C:0.04NA 122
    rs752085821,2
    C,F--35293065(+) TTAGGG/AAGTTA 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs2001192401,2
    --35293234(+) CCCCC-/GCCTCC 1 -- us2k10--------
    rs1140620691,2
    F--35293463(+) GAAACC/TGCCCG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs728261351,2
    C,F--35293520(+) CCCAGG/AACCCG 1 -- us2k11Minor allele frequency- A:0.05NA 120
    rs1921520121,2
    --35293626(+) GATGTA/GCGCTG 1 -- us2k10--------
    rs757980131,2
    C,F--35293652(+) TCCAGG/CTCAAG 1 -- us2k13Minor allele frequency- C:0.08NA WA 240

    HapMap Linkage Disequilibrium report for LHX1 (35294084 - 35301917 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LHX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833430CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): LHX1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LHX1
    DNA2.0 Custom Variant and Variant Library Synthesis for LHX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601999    OMIM disorders: --

    13 diseases for LHX1:    About MalaCards
    nephroblastoma    mayer-rokitansky-kuster-hauser syndrome    murcs association    renal dysplasia
    renal agenesis    chronic myeloid leukemia    tonsillitis    acute myeloid leukemia
    myeloid leukemia    renal cell carcinoma    retinitis    leukemia
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for LHX1:
    Renal agenesis

    LHX1 for disorders           About GeneDecksing


    Export disorders for LHX1 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)
    About This Section

    PubMed articles for LHX1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with LHX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/homeobox gene, hLim-1. (PubMed id 9212161)1, 2, 3 Dong W.F.... Minden M.D. (1997)
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Functional genomics identifies drivers of medulloblast oma dissemination. (PubMed id 22875024)1 Mumert M....Fults D.W. (2012)
    5. Lim1/LIM1 is expressed in developing and adult mouse a nd human endometrium. (PubMed id 22231913)1 Ye L....Gargett C.E. (2012)
    6. LHX1 mutation screening in 96 patients with mullerian duct abnormalities. (PubMed id 22217964)1 Xia M....Chen Z.J. (2012)
    7. Frame shift mutation of LHX1 is associated with Mayer- Rokitansky-Kuster-Hauser (MRKH) syndrome. (PubMed id 22740494)1 Ledig S....Wieacker P. (2012)
    8. Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas. (PubMed id 21778788)1 Guertl B....Hoefler G. (2011)
    9. Recurrent aberrations identified by array-CGH in pati ents with Mayer-Rokitansky-KA1ster-Hauser syndrome. (PubMed id 20797712)1 Ledig S....Wieacker P. (2010)
    10. LIM-class homeobox gene Lim1, a novel oncogene in hum an renal cell carcinoma. (PubMed id 21132009)1 Dormoy V....Massfelder T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 3975 HGNC: 6593 AceView: LHX1 Ensembl:ENSG00000132130 euGenes: HUgn3975
    ECgene: LHX1 H-InvDB: LHX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LHX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LHX1 gene:
    Search GeneIP for patents involving LHX1

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



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    About This Section

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     Proteins for LHX1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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