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

LHX1 Gene

protein-coding   GIFtS: 61
GCID: GC17P035294

LIM homeobox 1

 Explore 12 diseases affiliated with
LHX1 via our new
 Human Malady Compendium 
Biological research products
for LHX1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
LIM Homeobox 11 2     LIM Homeobox Protein 12 3
LIM11 2 3 5     LIM/Homeobox Protein Lhx12
LIM-11 2 3     HLim-11
Homeobox Protein 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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48742

  • LHX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005559.2  
    ENSEMBL proteins: 
     ENSP00000254457   ENSP00000467245  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: LHX1
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    Novus Biologicals LHX1 Protein
    Novus Biologicals LHX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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)
    OriGene Antibodies (see all 9): LHX1
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    Novus Biologicals LHX1 Antibodies
    Search for Antibodies for LHX1 at Abcam  
    Uscn Antibodies for LHX1
    ThermoFisher Antibodies for LHX1

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    Uscn ELISAs and CLIAs for LHX1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LHX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

    miRNA
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX1 (see all 7)
    OriGene shRNA RFP: LHX1
    OriGene siRNA: LHX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX1

    Gene Editing
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    Clone
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    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

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001071nucleic acid binding transcription factor activity ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity ISS--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--


    LHX1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for LHX1:
     Increased circadian period len 

    Animal Models:
         Mouse knock-out Lhx1tm1Bhr for LHX1
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis1.00
    2Neural Crest Differentiation
    Neural Crest Differentiation1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/71 biological process terms (GO ID links to tree view) (see all 71):    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, 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
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    OriGene 3'-UTR Clone: LHX1
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    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
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX1 (see all 7)
    OriGene shRNA RFP: LHX1
    OriGene siRNA: LHX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX1
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LHX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LHX1
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    GenScript: all cDNA clones in your preferred vector: LHX1 (NM_005568)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    BF512551 BU734212 AI827387 AI990607 AW294968 AI360476 AW516878 BF115672 
    NM_005568 AW170160 AI971941 BC020470 AI566122 BE962878 BF507477 U14755 
    BE463923 AW028650 AA642714 BE876326 AI375565 AI521796 AW024720 AW449518 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGGCCGAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    LHX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/42 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 42
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerImmature Horizontal CellsHorizontal, Retina
    Intermediate MesodermIntermediate MesodermIntermediate Mesoderm CellsMesoderm
    KidneyPretubular AggregatesPretubular Aggregate CellsKidney
    KidneyRenal VesicleDistal Renal Vesicle CellsKidney
    Spinal CordCaudal Brachial Lateral Motor DivisionAnterior Latissimus Dorsi Muscle Motor NeuronsMotor Neurons
    Spinal CordCaudal Brachial Lateral Motor DivisionLateral Neurons Of The LMCMotor Neurons
    Spinal CordLumbar Lateral Motor DivisionLateral Neurons of the LMCMotor Neurons
    Spinal CordRostral Brachial Lateral Motor DivisionLateral Neurons Of The LMCMotor Neurons
    Spinal CordRostral Brachial Lateral Motor DivisionScapulohumeralis Posterior Muscle Motor NeuronsMotor Neurons
    EpiblastEpiblastEarly-Gastrula OrganizerEarly Embryo
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    mK4 (Cell line)Kidney
    mK3 (Cell line)Kidney
    Definitive endoderm-like cells (Generation and expan...)
    Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)
    Intermediate mesoderm-like cells (Stepwise renal linea...)
    Intermediate mesoderm-like cells (Generation of interm...)
    Endoderm-like cells (Functional hepatocyt...)

    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

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    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 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    94(a)
    possible ortholog
    GL343439.1(343916-360576)
    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
    LMO22  ISL12  LHX22  LHX92  LMX1B2  LMO12  LHX52  LMO42  
    LHX62  LMX1A2  LMO32  LHX42  LHX32  LHX82  ISL22  
    18 SIMAP similar genes for LHX1 using alignment to 3 protein entries:     LHX1_HUMAN (see all proteins):
    LHX5    LHx4    LHX4    LMO1    LMO3    LHX8
    POU6F1    LMO2    LMO4    ISL2    LMX1B    LHX6
    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, UniProtKB, 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

    10/143 NCBI SNPs in LHX1 are shown (see all 143    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs771863761,2
    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,--35293059(+) GCGGGA/CTTAGG 1 -- us2k12Minor allele frequency- C:0.04NA 122
    rs752085821,2
    F,--35293065(+) TTAGGG/AAGTTA 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs38346031,2
    C,--35293228(-) GGGGGG/-TGCCG 1 -- us2k1 trp31Minor allele frequency- -:0.50CSA 2
    rs567877221,2
    C--35293230(+) CCCCCC/-TCCTC 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs2001192401,2
    --35293234(+) CCCCC-/GCCTCC 1 -- us2k10--------
    rs1140620691,2
    --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

    HapMap Linkage Disequilibrium report for LHX1 (35294084 - 35301917 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for LHX1
         1 CNV: 5001
         1 Inversion: 37189
    Human Gene Mutation Database (HGMD): LHX1

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

    LHX1 for disorders           About GeneDecksing

    OMIM gene information: 601999    OMIM disorders: --

    12 diseases for LHX1:    About MalaCards
    mayer-rokitansky-kuster-hauser syndrome    rokitansky-kuster-hauser syndrome    myeloid leukemia    chronic myeloid leukemia
    acute myeloid leukemia    renal cell carcinoma    nephroblastoma    tonsillitis
    leukemia    retinitis    carcinoma    neuronitis

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

    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
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      Query String
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      (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

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     LHX1 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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