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    LHX1 LIM homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 3975, updated on 21-Apr-2019

    Summary

    Official Symbol
    LHX1provided by HGNC
    Official Full Name
    LIM homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:6593
    See related
    Ensembl:ENSG00000273706 MIM:601999
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIM1; LIM-1
    Summary
    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]
    Expression
    Restricted expression toward kidney (RPKM 4.6) See more
    Orthologs

    Genomic context

    See LHX1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (36937475..36944615)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35294772..35301915)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371750 Neighboring gene uncharacterized LOC105371751 Neighboring gene LHX1 divergent transcript Neighboring gene VISTA enhancer hs363 Neighboring gene apoptosis antagonizing transcription factor Neighboring gene microRNA 2909

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126723, MGC138141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    S-shaped body morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anatomical structure formation involved in morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anatomical structure morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    anterior/posterior axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellar Purkinje cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebellum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cervix development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    comma-shaped body morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dorsal spinal cord interneuron posterior axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dorsal/ventral pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ectoderm formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic retina morphogenesis in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic viscerocranium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoderm formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    forebrain regionalization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gastrulation with mouth forming second ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    head development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    horizontal cell localization IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lateral motor column neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesonephric duct development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric S-shaped body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric comma-shaped body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric glomerulus development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric part of ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric renal vesicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    motor neuron axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nephric duct elongation IEA
    Inferred from Electronic Annotation
    more info
     
    nephric duct morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    oviduct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oviduct epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    paramesonephric duct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of anterior head development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of nephron tubule epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primitive streak formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pronephros development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    renal vesicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    somite rostral/caudal axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord association neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    telencephalon development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ureter morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    urogenital system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    uterine epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    uterus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vagina development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventral spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    LIM/homeobox protein Lhx1
    Names
    LIM homeobox protein 1
    homeobox protein Lim-1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005568.4NP_005559.2  LIM/homeobox protein Lhx1

      See identical proteins and their annotated locations for NP_005559.2

      Status: REVIEWED

      Source sequence(s)
      AC243773, BC020470, BC101674
      Consensus CDS
      CCDS11316.1
      UniProtKB/Swiss-Prot
      P48742
      UniProtKB/TrEMBL
      Q58F18
      Related
      ENSP00000477829.1, ENST00000614239.1
      Conserved Domains (4) summary
      cd09367
      Location:455
      LIM1_Lhx1_Lhx5; The first LIM domain of Lhx1 (also known as Lim1) and Lhx5
      cd09375
      Location:63118
      LIM2_Lhx1_Lhx5; The second LIM domain of Lhx1 (also known as Lim1) and Lhx5
      cl14561
      Location:291382
      An_peroxidase_like; Animal heme peroxidases and related proteins
      pfam00046
      Location:183236
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      36937475..36944615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      1173837..1180980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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