RBCC Red Blood Cell Collection

TGFB1_HUMAN

Source: PM19886704
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: TGFB1 , TGFB
Protein names and data: TGFB1_HUMAN , Transforming growth factor beta-1; TGF-beta-1; Latency-associated peptide; LAP; Flags: Precursor Lenght: 390 a.a.
Mass: 44341 Da
fasta formatted sequence
Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts.
Disease: ( OMIM: 131300 190180 ) Camurati-Engelmann disease (CE) [MIM:131300]: Autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted, extracellular space, extracellular matrix.
Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage.

Genetic variants

In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls.

10 - 10 L -> P (associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post- menopausal women; dbSNP:rs1800470). VAR_016171 1800470
25 - 25 R -> P (in dbSNP:rs1800471). VAR_016172 1800471
81 - 81 Y -> H (in CE; leads to TGF-beta-1 intracellular accumulation). VAR_017607
218 - 218 R -> C (in CE; higher levels of active TGF-beta-1 in the culture medium; enhances osteoclast formation in vitro). VAR_017608
218 - 218 R -> H (in CE). VAR_017609
222 - 222 H -> D (in CE; sporadic case; higher levels of active TGF-beta-1 in the culture medium). VAR_017610
223 - 223 C -> G (in CE). VAR_067303
223 - 223 C -> R (in CE). VAR_067304
225 - 225 C -> R (in CE; higher levels of active TGF-beta-1 in the culture medium). VAR_017611
263 - 263 T -> I (in dbSNP:rs1800472). VAR_016173 1800472

Database cross-references

UniProt: P01137
Ensembl: ENST00000221930
MIM: 131300
MIM: 190180
neXtProt: NX_P01137
Antibodypedia: P01137 (may not find the protein thus also not any antibody)
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