P52954 · LBX1_HUMAN
- ProteinTranscription factor LBX1
- GeneLBX1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids281 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 125-184 | Homeobox | ||||
Sequence: RRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQQLGLTNAQVITWFQNRRAKLKRDL |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Cellular Component | transcription regulator complex | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | anatomical structure morphogenesis | |
Biological Process | cell population proliferation | |
Biological Process | glutamatergic neuron differentiation | |
Biological Process | heart looping | |
Biological Process | muscle organ development | |
Biological Process | negative regulation of cell population proliferation | |
Biological Process | negative regulation of glutamatergic neuron differentiation | |
Biological Process | neuron fate determination | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | spinal cord motor neuron differentiation |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor LBX1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP52954
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Central hypoventilation syndrome, congenital, 3 (CCHS3)
- Note
- DescriptionA form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension.
- See alsoMIM:619483
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 338 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000049166 | 1-281 | Transcription factor LBX1 | |||
Sequence: MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLPLAGRALLSQTSPLCALEELASKTFKGLEVSVLQAAEGRDGMTIFGQRQTPKKRRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQQLGLTNAQVITWFQNRRAKLKRDLEEMKADVESAKKLGPSGQMDIVALAELEQNSEATAGGGGGCGRAKSRPGSPVLPPGAPKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEEIDVDD |
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with SKOR1 which acts as a transcriptional corepressor.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-21 | Basic and acidic residues | ||||
Sequence: MTSKEDGKAAPGEERRRSPLD | ||||||
Region | 1-35 | Disordered | ||||
Sequence: MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTP | ||||||
Region | 214-281 | Disordered | ||||
Sequence: NSEATAGGGGGCGRAKSRPGSPVLPPGAPKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEEIDVDD | ||||||
Compositional bias | 266-281 | Acidic residues | ||||
Sequence: QDCSEDEEDEEIDVDD |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length281
- Mass (Da)30,221
- Last updated2006-11-14 v2
- Checksum8467F2B515681CCA
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-21 | Basic and acidic residues | ||||
Sequence: MTSKEDGKAAPGEERRRSPLD | ||||||
Sequence conflict | 33-72 | in Ref. 1; CAA62342 | ||||
Sequence: LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP → YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRLA | ||||||
Sequence conflict | 81 | in Ref. 1; CAA62342 | ||||
Sequence: Q → K | ||||||
Sequence conflict | 183 | in Ref. 1; CAA62342 | ||||
Sequence: D → E | ||||||
Sequence conflict | 194 | in Ref. 1; CAA62342 | ||||
Sequence: A → P | ||||||
Sequence conflict | 247-248 | in Ref. 1; CAA62342 | ||||
Sequence: AG → RC | ||||||
Compositional bias | 266-281 | Acidic residues | ||||
Sequence: QDCSEDEEDEEIDVDD |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X90828 EMBL· GenBank· DDBJ | CAA62342.1 EMBL· GenBank· DDBJ | mRNA | ||
AL135794 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471066 EMBL· GenBank· DDBJ | EAW49777.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC069156 EMBL· GenBank· DDBJ | AAH69156.1 EMBL· GenBank· DDBJ | mRNA | ||
BC136321 EMBL· GenBank· DDBJ | AAI36322.1 EMBL· GenBank· DDBJ | mRNA |