LTBP1: Latent Transforming Growth Factor Beta Binding Protein 1
Key regulator of TGF-β bioavailability and extracellular matrix assembly
Gene Information Card
| Symbol | LTBP1 |
|---|---|
| Full Name | Latent Transforming Growth Factor Beta Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 4052 ncbi.nlm.nih.gov/gene/4052 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q14766 |
| OMIM ID | 150390 |
| HGNC ID | 6715 |
| Aliases | LTBP-1, TGF-beta1-BP-1 |
Description
LTBP1 encodes a member of the latent TGF-beta binding protein family, which targets latent TGF-beta complexes to the extracellular matrix. The protein is essential for proper TGF-beta activation, secretion, and storage. LTBP1 also contributes to microfibril assembly and elastic fiber formation. Mutations and dysregulation are linked to connective tissue disorders, fibrosis, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cutis laxa, autosomal recessive, type IIE | Impaired TGF-beta sequestration due to LTBP1 loss-of-function mutations | ClinVar, OMIM #150390 |
| Marfan syndrome-related connective tissue disorder | Disrupted microfibril assembly and TGF-beta dysregulation | OMIM #150390 |
| Colorectal cancer | LTBP1 overexpression promotes TGF-beta signaling and tumor fibrosis | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | Altered LTBP1 splicing enhances TGF-beta activation in tumor microenvironment | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Placenta | 15.2 | High |
| Skeletal muscle | 6.3 | Low |
| Kidney | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.0 | High expression |
| HepG2 (hepatocellular carcinoma) | 11.2 | Medium expression |
| MCF7 (breast adenocarcinoma) | 7.5 | Low expression |
| HEK293 (embryonic kidney) | 9.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | <0.01% | Loss of function; associated with cutis laxa |
| c.1678G>A (p.Gly560Ser) | Missense | <0.01% | Impaired TGF-beta binding |
| c.2245_2246insA (p.Thr749Asnfs*12) | Frameshift | <0.01% | Loss of function; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg378*, p.Thr749Asnfs*12) reduce LTBP1 protein levels, impairing latent TGF-beta complex targeting to ECM.
Gain of Function (GOF)
Not well documented; overexpression in certain cancers may enhance TGF-beta signaling.
Dominant Negative (DN)
Frameshift mutations near C-terminus can produce truncated proteins that interfere with wild-type LTBP1 function.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • extracellular matrix organization (GO:0030198) | • identical protein binding (GO:0042802) |
| • transforming growth factor beta binding (GO:0050431) | • collagen-containing extracellular matrix (GO:0062023) |
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Microfibril assembly (Reactome R-HSA-2168880)
• Extracellular matrix organization (Reactome R-HSA-1474244)
Protein Summary
LTBP1 is a 1394-amino-acid extracellular matrix protein that binds latent TGF-beta complexes via disulfide bonds. It contains multiple EGF-like and 8-cysteine domains, facilitating interaction with fibrillin-1 and integrins. The protein targets TGF-beta to the ECM for controlled activation. Proteolytic cleavage by enzymes such as BMP1 releases active TGF-beta. LTBP1 is critical for elastic fiber formation and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LTBP1 Knockout HEK293 Cell Line | EDJ-KQ389 | Human | 4052 | Details Get a Quote |
| LTBP1 Knockout HCT 116 Cell Line | EDJ-KQ17982 | Human | 4052 | Details Get a Quote |
| LTBP1 Knockout A-549 Cell Line | EDJ-KQ18599 | Human | 4052 | Details Get a Quote |
| LTBP1 Knockout HeLa Cell Line | EDJ-KQ18601 | Human | 4052 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
