Description: Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. RefSeq Summary (NM_001130144): The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. Transcript (Including UTRs) Position: hg19 chr11:65,306,882-65,326,253 Size: 19,372 Total Exon Count: 28 Strand: - Coding Region Position: hg19 chr11:65,306,886-65,325,163 Size: 18,278 Coding Exon Count: 27
ID:LTBP3_HUMAN DESCRIPTION: RecName: Full=Latent-transforming growth factor beta-binding protein 3; Short=LTBP-3; Flags: Precursor; FUNCTION: May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM). SUBUNIT: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. SUBCELLULAR LOCATION: Secreted (By similarity). Note=Secretion occurs after coexpression with TGFB1 and requires complexing with 'Cys-33' of the TGFB1 propeptide (By similarity). TISSUE SPECIFICITY: Isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary. Isoform 1 is strongly expressed in pancreas and liver. PTM: Contains hydroxylated asparagine residues (By similarity). PTM: Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix. DISEASE: Defects in LTBP3 are the cause of tooth agenesis selective type 6 (STHAG6) [MIM:613097]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Some individuals affected by tooth agenesis selective type 6 have short stature. SIMILARITY: Belongs to the LTBP family. SIMILARITY: Contains 13 EGF-like domains. SIMILARITY: Contains 4 TB (TGF-beta binding) domains. SEQUENCE CAUTION: Sequence=BAB15767.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NS15
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
