LHX3 - LIM homeobox 3 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-14
Description
This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and sequence-specific DNA binding activity. Involved in inner ear development and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in panhypopituitarism.
- CPHD3
- LIM3
- M2-LHX3
- LIM/homeobox protein Lhx3
- LIM homeobox protein 3
- LIM/homeodomain protein LHX3
Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system homeobox CHX10, positively modulating transcription; transcription can be co-activated by LDB2. Synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system (PMID: 21149718). Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1 (By similarity).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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