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    LBX1 ladybird homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 10660, updated on 5-Mar-2024

    Summary

    Official Symbol
    LBX1provided by HGNC
    Official Full Name
    ladybird homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:16960
    See related
    Ensembl:ENSG00000138136 MIM:604255; AllianceGenome:HGNC:16960
    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
    HPX6; CCHS3; HPX-6; LBX1H; homeobox
    Summary
    This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See LBX1 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101226994..101229463, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (102110349..102112818, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102986751..102989220, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1514 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:102942541-102943162 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102950066-102950672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102976445-102977036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102977629-102978220 Neighboring gene uncharacterized LOC124902491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102982447-102983096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102985871-102986372 Neighboring gene LBX1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102995795-102996717 Neighboring gene long intergenic non-protein coding RNA 2681 Neighboring gene MPRA-validated peak1078 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103020107-103020894

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Central hypoventilation syndrome, congenital, 3
    MedGen: C5561964 OMIM: 619483 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2014-08-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2014-08-21)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamatergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glutamatergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transcription factor LBX1
    Names
    lady bird-like homeobox
    ladybird homeobox homolog 1
    ladybird homeobox protein homolog 1
    transcription factor similar to D. melanogaster homeodomain protein lady bird late

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009236.1 RefSeqGene

      Range
      4498..6967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006562.5NP_006553.2  transcription factor LBX1

      See identical proteins and their annotated locations for NP_006553.2

      Status: REVIEWED

      Source sequence(s)
      AL135794
      Consensus CDS
      CCDS31270.1
      UniProtKB/Swiss-Prot
      B9EGA2, P52954, Q05BB2
      Related
      ENSP00000359212.2, ENST00000370193.4
      Conserved Domains (1) summary
      pfam00046
      Location:128181
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101226994..101229463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102110349..102112818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)