LBX1

Protein identityUniProt · HPA

UniProt accession

P52954

Gene

LBX1

Ensembl

ENSG00000138136

Chromosome

10

Canonical length

281 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli,Nuclear bodies,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

281 residues, UniProt reviewed canonical sequence.

>P52954|LBX1
     1  MTSKEDGKAA PGEERRRSPL DHLPPPANSN KPLTPFSIED ILNKPSVRRS YSLCGAAHLL
    61  AAADKHAQGG LPLAGRALLS QTSPLCALEE LASKTFKGLE VSVLQAAEGR DGMTIFGQRQ
   121  TPKKRRKSRT AFTNHQIYEL EKRFLYQKYL SPADRDQIAQ QLGLTNAQVI TWFQNRRAKL
   181  KRDLEEMKAD VESAKKLGPS GQMDIVALAE LEQNSEATAG GGGGCGRAKS RPGSPVLPPG
   241  APKAPGAGAL QLSPASPLTD QPASSQDCSE DEEDEEIDVD D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LBX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LBX1.

Disease | AllUniProt

Conditions LBX1 is implicated in, by any mechanism.

• Central hypoventilation syndrome, congenital, 3 (CCHS3) MIM:619483

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 31 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Central hypoventilation syndrome, congenital, 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.59

gnomAD pLI

0.68

gnomAD missense Z

1.11

DepMap mean gene effect

-0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell population proliferation
• heart looping
• muscle organ development
• negative regulation of cell population proliferation
• neuron fate determination
• regulation of transcription by RNA polymerase II
• spinal cord motor neuron differentiation
• glutamatergic neuron differentiation
• negative regulation of glutamatergic neuron differentiation
• spinal cord association neuron specification

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Helix-turn-helix motif
• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• LBX Family Transcription Factors
• Homeodomain

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Homeobox
• Myogenesis
• Neurogenesis
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of LBX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SKOR1