LTBP1 - latent transforming growth factor beta binding protein 1 Gene
Also Known as ARCL2E
Species: Homo sapiens
About LTBP1
This gene has 12 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 40.6), placenta (RPKM 32.5) and 24 other tissues.
Summary
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
LTBP1 Products (27)
| mRNA | Protein | Name |
|---|---|---|
| NM_000627.4 | NP_000618.4 | latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor |
| NM_001166264.2 | NP_001159736.2 | latent-transforming growth factor beta-binding protein 1 isoform 4 precursor |
| NM_001166265.2 | NP_001159737.2 | latent-transforming growth factor beta-binding protein 1 isoform 3 precursor |
| NM_001166266.2 | NP_001159738.2 | latent-transforming growth factor beta-binding protein 1 isoform 5 precursor |
| NM_001394905.1 | NP_001381834.1 | latent-transforming growth factor beta-binding protein 1 isoform 6 precursor |
| NM_001394906.1 | NP_001381835.1 | latent-transforming growth factor beta-binding protein 1 isoform 7 precursor |
| NM_001394907.1 | NP_001381836.1 | latent-transforming growth factor beta-binding protein 1 isoform 8 precursor |
| NM_001394908.1 | NP_001381837.1 | latent-transforming growth factor beta-binding protein 1 isoform 9 precursor |
| NM_001394909.1 | NP_001381838.1 | latent-transforming growth factor beta-binding protein 1 isoform 10 precursor |
| NM_001394910.1 | NP_001381839.1 | latent-transforming growth factor beta-binding protein 1 isoform 11 precursor |
| NM_001394911.1 | NP_001381840.1 | latent-transforming growth factor beta-binding protein 1 isoform 12 precursor |
| NM_001394912.1 | NP_001381841.1 | latent-transforming growth factor beta-binding protein 1 isoform 13 precursor |
| NM_001394913.1 | NP_001381842.1 | latent-transforming growth factor beta-binding protein 1 isoform 14 precursor |
| NM_001394914.1 | NP_001381843.1 | latent-transforming growth factor beta-binding protein 1 isoform 15 precursor |
| NM_001394915.1 | NP_001381844.1 | latent-transforming growth factor beta-binding protein 1 isoform 16 precursor |
| NM_001394916.1 | NP_001381845.1 | latent-transforming growth factor beta-binding protein 1 isoform 17 |
| NM_001394917.1 | NP_001381846.1 | latent-transforming growth factor beta-binding protein 1 isoform 18 precursor |
| NM_001394918.1 | NP_001381847.1 | latent-transforming growth factor beta-binding protein 1 isoform 19 precursor |
| NM_001394919.1 | NP_001381848.1 | latent-transforming growth factor beta-binding protein 1 isoform 20 precursor |
| NM_001394920.1 | NP_001381849.1 | latent-transforming growth factor beta-binding protein 1 isoform 21 precursor |
| NM_001394921.1 | NP_001381850.1 | latent-transforming growth factor beta-binding protein 1 isoform 22 precursor |
| NM_001394923.1 | NP_001381852.1 | latent-transforming growth factor beta-binding protein 1 isoform 23 precursor |
| NM_001394924.1 | NP_001381853.1 | latent-transforming growth factor beta-binding protein 1 isoform 24 precursor |
| NM_001394925.1 | NP_001381854.1 | latent-transforming growth factor beta-binding protein 1 isoform 25 precursor |
| NM_001394926.1 | NP_001381855.1 | latent-transforming growth factor beta-binding protein 1 isoform 26 precursor |
| NM_001394927.1 | NP_001381856.1 | latent-transforming growth factor beta-binding protein 1 isoform 27 precursor |
| NM_206943.4 | NP_996826.3 | latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables microfibril binding |
IDA
IDA: Inferred from direct assay
|
12429738 | GOA |
| enables molecular adaptor activity |
EXP
EXP: Inferred from Experiment
|
28669633 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12429738 | GOA |
| enables receptor ligand inhibitor activity |
IDA
IDA: Inferred from direct assay
|
8617200 | GOA |
| enables transforming growth factor beta binding |
IPI
IPI: Inferred from physical interaction
|
2022183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in establishment of protein localization to extracellular region |
IDA
IDA: Inferred from direct assay
|
2022183 | GOA |
| involved in sequestering of TGFbeta in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
2022183 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
16157329 | GOA |
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
8617200 | GOA |
| located in microfibril |
IDA
IDA: Inferred from direct assay
|
12429738 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
12429738 | GOA |
LTBP1 Protein Structure
TB: TB domain (566 - 609)
EGF_CA: Calcium-binding EGF domain (626 - 665)
TB: TB domain (688 - 728)
EGF_CA: Calcium-binding EGF domain (915 - 955)
EGF_CA: Calcium-binding EGF domain (957 - 996)
EGF_CA: Calcium-binding EGF domain (998 - 1033)
EGF_CA: Calcium-binding EGF domain (1038 - 1077)
EGF_CA: Calcium-binding EGF domain (1079 - 1118)
EGF_CA: Calcium-binding EGF domain (1120 - 1159)
EGF_CA: Calcium-binding EGF domain (1161 - 1200)
EGF_CA: Calcium-binding EGF domain (1202 - 1242)
EGF_CA: Calcium-binding EGF domain (1244 - 1284)
TB: TB domain (1358 - 1400)
EGF_CA: Calcium-binding EGF domain (1467 - 1506)
TB: TB domain (1535 - 1576)
EGF_CA: Calcium-binding EGF domain (1662 - 1705)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1721 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
latent-transforming growth factor beta-binding protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
|
| Autosomal Recessive Cutis Laxa Type I |
|
|
| Geleophysic Dysplasia |
|
|
| Cutis Laxa |
|
|
| Inguinal Hernia |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
|
| Acromicric Dysplasia |
|
|
| Stiff Skin Syndrome |
|
|
| Weill-Marchesani Syndrome |
|
|
| Brachydactyly |
|
|
| Isolated Ectopia Lentis |
|
|
| Contractural Arachnodactyly, Congenital |
|
|
| Phacogenic Glaucoma |
|
|
| Craniosynostosis |
|
|
| Loeys-Dietz Syndrome |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | LTBP1 | VGNC | VGNC:31071 |
| Mus musculus | LTBP1 | MGD | MGI:109151 |
| Macaca mulatta | LTBP1 | VGNC | VGNC:74456 |
| Rattus norvegicus | LTBP1 | RGD | RGD:68379 |
| Felis catus | LTBP1 | VGNC | VGNC:81116 |
| Canis familiaris | LTBP1 | VGNC | VGNC:42856 |
| Others | LTBP1 | NCBI |