LDB1: LIM Domain Binding 1 - Transcriptional Co-regulator in Development and Disease
A comprehensive biomedical resource for LDB1 (LIM Domain Binding 1), including gene card, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | LDB1 |
|---|---|
| Full Name | LIM domain binding 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 8861 ncbi.nlm.nih.gov/gene/8861 |
| Ensembl ID | ENSG00000148795 |
| UniProt ID | Q9UQR1 |
| OMIM ID | 603451 |
| HGNC ID | 6532 |
| Aliases | CLIM2, LDB-1, NLI, hNLI |
Description
LDB1 (LIM domain binding 1) encodes a nuclear protein that functions as a transcriptional co-regulator. It binds to LIM domains of various transcription factors, including LMO2 and LMO4, and is essential for hematopoiesis, neurogenesis, and cardiac development. LDB1 forms multimeric complexes that regulate chromatin looping and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | LDB1 interacts with LMO2 to form oncogenic complexes that drive aberrant T-cell proliferation | PMID: 17377532 |
| Breast cancer | LDB1 overexpression correlates with poor prognosis and promotes metastasis via LMO4 interaction | PMID: 21159643 |
| Neurodevelopmental disorders | LDB1 haploinsufficiency linked to intellectual disability and autism spectrum traits | ClinVar: VCV000429832 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Brain cortex | 8.3 | Low |
| Heart | 15.2 | Medium |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| K562 | 18.5 | Leukemia cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.457C>T (p.Arg153Trp) | missense | 0.02% | Alters LIM-binding domain, reduced transcriptional activity |
| c.1024_1025insA (p.Thr342Asnfs*5) | frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr342Asnfs*5) lead to truncated protein lacking functional domains, resulting in haploinsufficiency.
Gain of Function (GOF)
Not well documented; LDB1 overexpression in breast cancer may act as a gain-of-function through increased co-regulator activity.
Dominant Negative (DN)
Missense mutations in the LIM-binding domain (e.g., p.Arg153Trp) may disrupt dimerization and interfere with wild-type LDB1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• LMO2-LDB1 complex in hematopoiesis (Reactome: R-HSA-8939243)
• Notch signaling in T-ALL (KEGG: hsa04330)
• Transcriptional regulation by LDB1 (WikiPathways: WP4754)
Protein Summary
LDB1 is a 375-amino acid nuclear protein (UniProt Q9UQR1) containing a LIM-interacting domain (LID) and a dimerization domain. It forms homo-oligomers and hetero-oligomers with LMO proteins, bridging transcription factors to chromatin remodeling complexes. LDB1 is ubiquitously expressed with highest levels in hematopoietic and neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDB1 Knockout HEK293 Cell Line | EDJ-KQ2801 | Human | 8861 | Details Get a Quote |
| LDB1 Knockout HeLa Cell Line | EDJ-KQ22372 | Human | 8861 | Details Get a Quote |
| LDB1 Knockout A-549 Cell Line | EDJ-KQ23734 | Human | 8861 | Details Get a Quote |
| LDB1 Knockout HCT 116 Cell Line | EDJ-KQ23735 | Human | 8861 | Details Get a Quote |
