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] See more...

Aliases for LBX1 Gene

Aliases for LBX1 Gene

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

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 Split-Hand/Foot Malformation 3. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is LBX2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LBX1 Gene

Genomics for LBX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LBX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J101224 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.7 +1.8 1840 6.5 ZNF629 PRDM10 ZNF692 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 ZNF501 EZH2 LBX1-AS1 LBX1 PHBP9 PPRC1 LDB1 CHUK ENSG00000272572 ARMH3 HPS6 LZTS2
GH10J101213 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 0.4 +16.0 16035 0.2 CTCF TEAD4 ZNF629 NFKBIZ ZNF692 ZNF143 PHF21A PATZ1 REST RAD21 lnc-TLX1-5 lnc-LBX1-4 LBX1 TLX1
GH10J101236 Enhancer 0.8 Ensembl ENCODE 0.4 -7.5 -7507 1.8 RNF2 IKZF1 POLR2A EZH2 CEBPB FOS YY1 WT1 ZFHX2 BHLHE40 RNU2-43P LBX1-AS1 TLX1 DPCD SFXN3 lnc-TLX1-7 LBX1 lnc-TLX1-6 LINC02681 BTRC
GH10J101214 Enhancer 0.8 ENCODE 0.4 +14.9 14905 0.2 CREB1 CTCF PRDM10 ZNF692 ZNF143 POLR2A PATZ1 RAD21 TRIM22 EZH2 lnc-TLX1-5 lnc-LBX1-4 LBX1 TLX1
GH10J101262 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 0.3 -31.1 -31055 0.8 ZIC2 PATZ1 TCF7L2 FOXM1 NR2F1 NR2F6 VEZF1 KDM1A MEIS2 IKZF1 LINC02681 lnc-TLX1-7 LBX1 LBX1-AS1 BTRC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LBX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LBX1

Top Transcription factor binding sites by QIAGEN in the LBX1 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF2
  • Lmo2
  • Nkx2-5

Genomic Locations for LBX1 Gene

Genomic Locations for LBX1 Gene
chr10:101,226,195-101,229,794
(GRCh38/hg38)
Size:
3,600 bases
Orientation:
Minus strand
chr10:102,986,733-102,989,551
(GRCh37/hg19)
Size:
2,819 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for LBX1 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for LBX1 Gene

GenScript: Design optimal peptide antigens:
  • Ladybird homeobox protein homolog 1 (LBX1_HUMAN)
  • HPX-6 protein (Q6LBH2_HUMAN)
genes like me logo Genes that share domains with LBX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LBX1 Gene

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.

Phenotypes From GWAS Catalog for LBX1 Gene

Gene Ontology (GO) - Molecular Function for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LBX1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LBX1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with LBX1: view

Pathways & Interactions for LBX1 Gene

PathCards logo

SuperPathways for LBX1 Gene

No Data Available

SIGNOR curated interactions for LBX1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with LBX1: view

No data available for Pathways by source 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 :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LBX1

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

No ASD Table

Relevant External Links for LBX1 Gene

GeneLoc Exon Structure for
LBX1

Expression for LBX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for LBX1 Gene



Protein tissue co-expression partners for LBX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LBX1

SOURCE GeneReport for Unigene cluster for LBX1 Gene:

Hs.37128

Evidence on tissue expression from TISSUES for LBX1 Gene

  • Muscle(2.6)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with LBX1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia LBX1 30 31
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LBX1 30 31
  • 94.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LBX1 30 31
  • 93.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LBX1 31
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lbx1 30
  • 92.69 (n)
Mouse
(Mus musculus)
Mammalia Lbx1 30 17 31
  • 91.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LBX1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lbx1 30
  • 69.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii lbx1a 30 31
  • 68.73 (n)
OneToOne
lbx1h 30
Fruit Fly
(Drosophila melanogaster)
Insecta lbl 31 32
  • 24 (a)
ManyToMany
lbe 31
  • 21 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for LBX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LBX1: view image

Paralogs for LBX1 Gene

Paralogs for LBX1 Gene

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

  • LBX1_HUMAN
genes like me logo Genes that share paralogs with LBX1: view

Variants for LBX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LBX1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
780888 Benign: not provided 101,227,402(-) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LBX1 Gene

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)

Additional Variant Information for LBX1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LBX1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for LBX1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LBX1 in MalaCards View complete list of genes associated with diseases
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 (Mechanisms of development 1995) 2 3 4 23
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Association of Susceptibility Genes for Adolescent Idiopathic Scoliosis and Intervertebral Disc Degeneration With Adult Spinal Deformity. (PMID: 31365516) Takeda K … Watanabe K (Spine 2019) 3

Products for LBX1 Gene

Sources for LBX1 Gene