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
382661792024Targeted Mass Spectrometry of Longitudinal Patient Sera Reveals LTBP1 as a Potential Surveillance Biomarker for High-Grade Serous Ovarian Carcinoma.1
383584122024A prognostic marker LTBP1 is associated with epithelial mesenchymal transition and can promote the progression of gastric cancer.0
382661792024Targeted Mass Spectrometry of Longitudinal Patient Sera Reveals LTBP1 as a Potential Surveillance Biomarker for High-Grade Serous Ovarian Carcinoma.1
383584122024A prognostic marker LTBP1 is associated with epithelial mesenchymal transition and can promote the progression of gastric cancer.0
366295222023Immune suppressive signaling regulated by latent transforming growth factor beta binding protein 1 promotes metastasis in cervical cancer.1
366295222023Immune suppressive signaling regulated by latent transforming growth factor beta binding protein 1 promotes metastasis in cervical cancer.1
354528172022LTBP1 promotes fibrillin incorporation into the extracellular matrix.5
354528172022LTBP1 promotes fibrillin incorporation into the extracellular matrix.5
339914722021Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.11
344115632021POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.4
339914722021Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.11
344115632021POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.4
316280422020PTPS Facilitates Compartmentalized LTBP1 S-Nitrosylation and Promotes Tumor Growth under Hypoxia.22
322168152020LTBP1 promotes esophageal squamous cell carcinoma progression through epithelial-mesenchymal transition and cancer-associated fibroblasts transformation.13
330597532020LTBP1 plays a potential bridge between depressive disorder and glioblastoma.8

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/gene-fusions/gene-explorer/gene-explorer/