ID:LTBP4_HUMAN DESCRIPTION: RecName: Full=Latent-transforming growth factor beta-binding protein 4; Short=LTBP-4; 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) (By similarity). SUBUNIT: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 (By similarity). INTERACTION: O15265:ATXN7; NbExp=2; IntAct=EBI-947718, EBI-708350; O00555:CACNA1A; NbExp=2; IntAct=EBI-947718, EBI-766279; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. DEVELOPMENTAL STAGE: Very low expression in fetal brain, liver, heart, spleen and thymus. PTM: Contains hydroxylated asparagine residues (By similarity). DISEASE: Defects in LTBP4 are the cause of Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]; also known as Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities. URDS is a syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. SIMILARITY: Belongs to the LTBP family. SIMILARITY: Contains 16 EGF-like domains. SIMILARITY: Contains 4 TB (TGF-beta binding) domains.
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 Q8N2S1
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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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
