Homo sapiens Protein: LTBP4 | |||||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||
PDB ID | |||||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR001881 EGF-like calcium-binding domain IPR017878 TB domain |
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PFAM |
PF00008
PF07645 PF00683 |
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PRINTS | |||||||||||||||||||||
PIRSF | |||||||||||||||||||||
SMART |
SM00181
SM00179 |
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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 | ||||||||||||||||||||