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Aliases for LBX1 Gene

Aliases for LBX1 Gene

  • Ladybird Homeobox 1 2 3 5
  • Ladybird Homeobox Protein Homolog 1 3 4
  • LBX1H 3 4
  • Transcription Factor Similar To D. Melanogaster Homeodomain Protein Lady Bird Late 3
  • Ladybird Homeobox Homolog 1 (Drosophila) 2
  • Ladybird Homeobox Homolog 1 3
  • Transcription Factor LBX1 3
  • Lady Bird-Like Homeobox 3
  • Homeobox 3
  • HPX-6 3
  • HPX6 3

External Ids for LBX1 Gene

Previous GeneCards Identifiers for LBX1 Gene

  • GC10M101879
  • GC10M102220
  • GC10M103117
  • GC10M102651
  • GC10M102976
  • GC10M096616

Summaries for LBX1 Gene

Entrez Gene Summary for LBX1 Gene

  • 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]

GeneCards Summary for LBX1 Gene

LBX1 (Ladybird Homeobox 1) is a Protein Coding gene. Diseases associated with LBX1 include Idiopathic Scoliosis and Currarino Triad. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is LBX2.

UniProtKB/Swiss-Prot for LBX1 Gene

  • Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.

Gene Wiki entry for LBX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LBX1 Gene

Genomics for LBX1 Gene

Regulatory Elements for LBX1 Gene


Genomic Location for LBX1 Gene

Chromosome:
10
Start:
101,226,195 bp from pter
End:
101,230,327 bp from pter
Size:
4,133 bases
Orientation:
Minus strand

Genomic View for LBX1 Gene

Genes around LBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LBX1 Gene

Proteins for LBX1 Gene

  • Protein details for LBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52954-LBX1_HUMAN
    Recommended name:
    Transcription factor LBX1
    Protein Accession:
    P52954
    Secondary Accessions:
    • B9EGA2
    • Q05BB2

    Protein attributes for LBX1 Gene

    Size:
    281 amino acids
    Molecular mass:
    30221 Da
    Quaternary structure:
    • Interacts with SKOR1 which acts as a transcriptional corepressor.

neXtProt entry for LBX1 Gene

Post-translational modifications for LBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LBX1 Gene

Domains & Families for LBX1 Gene

Gene Families for LBX1 Gene

Suggested Antigen Peptide Sequences for LBX1 Gene

Graphical View of Domain Structure for InterPro Entry

P52954

UniProtKB/Swiss-Prot:

LBX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with LBX1: view

Function for LBX1 Gene

Molecular function for LBX1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.

Gene Ontology (GO) - Molecular Function for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with LBX1: view
genes like me logo Genes that share phenotypes with LBX1: view

Animal Models for LBX1 Gene

MGI Knock Outs for LBX1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LBX1 Gene

Localization for LBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LBX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LBX1 Gene COMPARTMENTS Subcellular localization image for LBX1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with LBX1: view

Pathways & Interactions for LBX1 Gene

SuperPathways for LBX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007517 muscle organ development IEA --
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with LBX1: view

No data available for Pathways by source and SIGNOR curated interactions for LBX1 Gene

Drugs & Compounds for LBX1 Gene

(2) Additional Compounds for LBX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LBX1: view

Transcripts for LBX1 Gene

mRNA/cDNA for LBX1 Gene

(1) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LBX1 Gene

No ASD Table

Relevant External Links for LBX1 Gene

GeneLoc Exon Structure for
LBX1
ECgene alternative splicing isoforms for
LBX1

Expression for LBX1 Gene

mRNA expression in normal human tissues for LBX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LBX1 Gene

This gene is overexpressed in Muscle - Skeletal (x40.9) and Brain - Spinal cord (cervical c-1) (x4.5).

Protein differential expression in normal tissues from HIPED for LBX1 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LBX1 Gene



Protein tissue co-expression partners for LBX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LBX1 Gene:

LBX1

SOURCE GeneReport for Unigene cluster for LBX1 Gene:

Hs.37128
genes like me logo Genes that share expression patterns with LBX1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for LBX1 Gene

Orthologs for LBX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LBX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LBX1 34
  • 93.56 (n)
  • 96.28 (a)
LBX1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LBX1 34
  • 94.42 (n)
  • 97.4 (a)
LBX1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lbx1 34
  • 91.82 (n)
  • 96.65 (a)
Lbx1 16
Lbx1 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LBX1 34
  • 99.88 (n)
  • 99.64 (a)
LBX1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lbx1 34
  • 92.69 (n)
  • 96.65 (a)
oppossum
(Monodelphis domestica)
Mammalia LBX1 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LBX1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lbx1 34
  • 69.7 (n)
  • 77.87 (a)
zebrafish
(Danio rerio)
Actinopterygii lbx1a 34
  • 68.73 (n)
  • 74.42 (a)
lbx1h 34
lbx1a 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lbl 36
  • 75 (a)
lbe 35
  • 21 (a)
ManyToMany
lbl 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for LBX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LBX1 Gene

ENSEMBL:
Gene Tree for LBX1 (if available)
TreeFam:
Gene Tree for LBX1 (if available)

Paralogs for LBX1 Gene

(5) SIMAP similar genes for LBX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LBX1: view

Variants for LBX1 Gene

Sequence variations from dbSNP and Humsavar for LBX1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1322331 -- 101,226,832(-) GGGAG(G/T)GGCAG downstream-variant-500B, utr-variant-3-prime
rs12776802 -- 101,227,470(+) GGCCT(C/G)CGAGT reference, missense
rs12776825 -- 101,227,506(+) GATGT(C/T)CATCT reference, missense
rs12776987 -- 101,227,551(+) GTCGG(C/G)CTTCA reference, missense
rs12777128 -- 101,227,472(+) CCTCC(C/G)AGTTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LBX1 Gene

Variant ID Type Subtype PubMed ID
nsv831966 CNV gain 17160897

Variation tolerance for LBX1 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LBX1 Gene

Human Gene Mutation Database (HGMD)
LBX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LBX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LBX1 Gene

Disorders for LBX1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LBX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
idiopathic scoliosis
  • scoliosis idiopathic
currarino triad
  • currarino syndrome
leri-weill dyschondrosteosis
  • leri weill dyschondrosteosis
adolescent idiopathic scoliosis
  • idiopathic adolescent scoliosis
scoliosis
- elite association - COSMIC cancer census association via MalaCards
Search LBX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LBX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LBX1
genes like me logo Genes that share disorders with LBX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LBX1 Gene

Publications for LBX1 Gene

  1. Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family related to the Drosophila lady bird genes. (PMID: 8645601) Jagla K. … Bellard M. (Mech. Dev. 1995) 2 3 4 22 65
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 65
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  4. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation. (PMID: 26820155) Guo L. … Shukunami C. (PLoS Genet. 2016) 3 65
  5. Haplotypes at LBX1 have distinct inheritance patterns with opposite effects in adolescent idiopathic scoliosis. (PMID: 25675428) Chettier R. … Ward K. (PLoS ONE 2015) 3 65

Products for LBX1 Gene

Sources for LBX1 Gene

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