Homo sapiens Protein: LTBP4
Summary
InnateDB Protein IDBP-51873.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LTBP4
Protein Name latent transforming growth factor beta binding protein 4
Synonyms ARCL1C; LTBP-4; LTBP4L; LTBP4S;
Species Homo sapiens
Ensembl Protein ENSP00000311905
InnateDB Gene IDBG-51867 (LTBP4)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:16157329, ECO:0000269PubMed:9660815}.
Disease Associations Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]: 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. {ECO:0000269PubMed:19836010}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. {ECO:0000269PubMed:9271198, ECO:0000269PubMed:9660815}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005539 glycosaminoglycan binding
GO:0050431 transforming growth factor beta binding
Biological Process
GO:0001558 regulation of cell growth
GO:0006457 protein folding
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007275 multicellular organismal development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0030162 regulation of proteolysis
GO:0030198 extracellular matrix organization
GO:0030252 growth hormone secretion
GO:0045595 regulation of cell differentiation
GO:0046879 hormone secretion
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR017878 TB domain
PFAM PF00008
PF07645
PF00683
PRINTS
PIRSF
SMART SM00181
SM00179
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N2S1
PhosphoSite PhosphoSite-Q8N2S1
TrEMBL B3KXY6
UniProt Splice Variant
Entrez Gene 8425
UniGene Hs.466766
RefSeq NP_001036009
HUGO HGNC:6717
OMIM 604710
CCDS CCDS74369
HPRD 05274
IMGT
EMBL AC010412 AF051344 AF051345 AK074499 AK128191 Y13622
GenPept AAC39879 AAC39880 BAC11024 BAG54648 CAA73944