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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 (Latent Transforming Growth Factor Beta Binding Protein 1) is a Protein Coding gene. Diseases associated with LTBP1 include Geleophysic Dysplasia and Acromicric Dysplasia. Among its related pathways are Degradation of the extracellular matrix and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transforming growth factor beta binding. An important paralog of this gene is LTBP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005024 | transforming growth factor beta-activated receptor activity | NAS | 8537398 |
GO:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 12429738 |
GO:0019838 | growth factor binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001527 | microfibril | IDA | 12429738 |
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0031012 | extracellular matrix | NAS | 8537398 |
GO:0032991 | protein-containing complex | IDA | 12429738 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003281 | ventricular septum development | IEA | -- |
GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | IEA | -- |
GO:0035583 | sequestering of TGFbeta in extracellular matrix | IDA,TAS | 18677313 |
GO:0035904 | aorta development | IEA | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LTBP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LTBP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LTBP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ltbp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ltbp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LTBP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LTBP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LTBP1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | LTBP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ltbp1 30 |
|
||
Str.20370 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LTGF-1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ltbp1 30 |
|
||
LTBP1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG32373 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | B0393.5 32 |
|
|
|
ZK783.1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710311 | Benign: not provided | 33,188,841(+) | T/C | MISSENSE_VARIANT | |
711325 | Benign: not provided | 33,262,794(+) | A/G | MISSENSE_VARIANT | |
713933 | Benign: not provided | 33,280,135(+) | G/A | MISSENSE_VARIANT | |
717568 | Likely Benign: not provided | 33,347,499(+) | G/A | MISSENSE_VARIANT | |
727526 | Benign: not provided | 33,397,215(+) | C/G | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
geleophysic dysplasia |
|
|
acromicric dysplasia |
|
|
megalocornea |
|
|
weill-marchesani syndrome |
|
|
isolated ectopia lentis |
|
|