LTBP1 (latent transforming growth factor beta binding protein 1)

2003-12-01  

Identity

HGNC
LTBP1
LOCATION
2p22.3
LOCUSID
4052
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4052
MIM: 150390
HGNC: 6714
Ensembl: ENSG00000049323

Variants:

dbSNP: 4052
ClinVar: 4052
TCGA: ENSG00000049323
COSMIC: LTBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049323ENST00000402934C9JD84
ENSG00000049323ENST00000404525Q14766
ENSG00000049323ENST00000404816Q14766
ENSG00000049323ENST00000407925Q14766
ENSG00000049323ENST00000413303C9JDW2
ENSG00000049323ENST00000415140H7BZ76
ENSG00000049323ENST00000418533E7EV71
ENSG00000049323ENST00000422669H7C0I7
ENSG00000049323ENST00000432635H7C2H7
ENSG00000049323ENST00000468091H7C4L5

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
124297382003Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.165
221695322011The single-molecule mechanics of the latent TGF-β1 complex.79
206993572010Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
175803032007Potential role for heparan sulfate proteoglycans in regulation of transforming growth factor-beta (TGF-beta) by modulating assembly of latent TGF-beta-binding protein-1.52
186021012008MT1-MMP releases latent TGF-beta1 from endothelial cell extracellular matrix via proteolytic processing of LTBP-1.50
172930992007LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.45
253699322014Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.34
234621182013Characterization of the TGF-β1 signaling abnormalities in the Gata1low mouse model of myelofibrosis.33
223225292012Tgf-β1 induces autophagy and promotes apoptosis in renal tubular epithelial cells.31

Citation

Dessen P

LTBP1 (latent transforming growth factor beta binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41212/ltbp1