LHX1 Gene: LIM Homeobox 1
Key regulator of embryonic development and urogenital system formation
Gene Information Card
| Symbol | LHX1 |
|---|---|
| Full Name | LIM homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 3975 ncbi.nlm.nih.gov/gene/3975 |
| Ensembl ID | ENSG00000160299 |
| UniProt ID | P48742 |
| OMIM ID | 601999 |
| HGNC ID | 6593 |
| Aliases | LIM-1, hLim-1, LIM1 |
Description
LHX1 encodes a member of the LIM homeobox family of transcription factors, characterized by two LIM zinc-binding domains and a homeodomain. This protein is essential for embryonic development, particularly in the formation of the urogenital system, head organizer, and neural tube. It regulates gene expression by binding to specific DNA sequences and interacting with other transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) | Heterozygous loss-of-function mutations in LHX1 impair urogenital tract development, leading to uterine and vaginal agenesis. | ClinVar, OMIM |
| Congenital anomalies of kidney and urinary tract (CAKUT) | LHX1 variants disrupt nephric duct development, contributing to renal agenesis or dysplasia. | NCBI Gene, OMIM |
| Endometriosis (susceptibility) | Polymorphisms in LHX1 may alter gene expression in the Müllerian duct, increasing risk. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 5.2 | Low |
| Ovary | 3.8 | Low |
| Uterus | 2.1 | Not detected |
| Brain (cerebellum) | 1.5 | Not detected |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function; premature truncation of protein |
| c.266G>A (p.Arg89Gln) | Missense | Rare | Loss of function; impaired DNA binding |
| c.601C>T (p.Arg201Trp) | Missense | Rare | Loss of function; disrupted homeodomain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in the homeodomain or LIM domains reduce or abolish transcriptional activity, leading to haploinsufficiency in MRKH and CAKUT.
Gain of Function (GOF)
No gain-of-function mutations reported for LHX1.
Dominant Negative (DN)
No dominant-negative mutations reported for LHX1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Developmental biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by LHX1 (UniProt)
Protein Summary
LHX1 is a 406-amino acid transcription factor containing two N-terminal LIM zinc-binding domains (LIM1 and LIM2) and a C-terminal homeodomain. The LIM domains mediate protein-protein interactions, while the homeodomain binds to AT-rich DNA sequences. LHX1 forms complexes with LDB1 and other cofactors to regulate target genes involved in cell fate specification and morphogenesis. It is predominantly expressed during embryogenesis in the pronephros, mesonephros, and Müllerian duct.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHX1 Knockout HEK293 Cell Line | EDJ-KQ5119 | Human | 3975 | Details Get a Quote |
| LHX1 Knockout HeLa Cell Line | EDJ-KQ53794 | Human | 3975 | Details Get a Quote |
| LHX1 Knockout A-549 Cell Line | EDJ-KQ62271 | Human | 3975 | Details Get a Quote |
| LHX1 Knockout HCT 116 Cell Line | EDJ-KQ70756 | Human | 3975 | Details Get a Quote |
