U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LBX1 ladybird homeobox 1 [ Homo sapiens (human) ]

Gene ID: 10660, updated on 17-Sep-2022

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
Try the new Gene table
Try the new Transcript table

Genomic context

See LBX1 in Genome Data Viewer
Location:
10q24.32
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101226994..101229463, complement)
110 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 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 7 Neighboring gene uncharacterized LOC124902491 Neighboring gene LBX1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2681

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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
involved_in spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    P52954, Q05BB2
    Related
    ENSP00000359212.2, ENST00000370193.4
    Conserved Domains (1) summary
    pfam00046
    Location:128181
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)