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LBX1 ladybird homeobox 1 [ Homo sapiens (human) ]

Gene ID: 10660, updated on 12-Oct-2019

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
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; 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

Genomic context

See LBX1 in Genome Data Viewer
Location:
10q24.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (101226976..101228960, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102986733..102989954, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNY5 pseudogene 7 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 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

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
heart looping IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
neuron fate determination IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor 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)

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
    5001..6985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006562.4NP_006553.2  transcription factor LBX1

    See identical proteins and their annotated locations for NP_006553.2

    Status: REVIEWED

    Source sequence(s)
    AL135794, BC069156
    Consensus CDS
    CCDS31270.1
    UniProtKB/Swiss-Prot
    P52954
    Related
    ENSP00000359212.2, ENST00000370193.3
    Conserved Domains (1) summary
    pfam00046
    Location:128181
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    101226976..101228960 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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