Entity Details

Primary name LTBP4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N2S1
EntryNameLTBP4_HUMAN
FullNameLatent-transforming growth factor beta-binding protein 4
TaxID9606
Evidenceevidence at protein level
Length1624
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesLTBP4

GO terms

Show/Hide Table
GOName
GO:0001527 microfibril
GO:0001558 regulation of cell growth
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005539 glycosaminoglycan binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0006457 protein folding
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007275 multicellular organism development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0030162 regulation of proteolysis
GO:0030252 growth hormone secretion
GO:0031012 extracellular matrix
GO:0045595 regulation of cell differentiation
GO:0048251 elastic fiber assembly
GO:0050431 transforming growth factor beta binding
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

Show/Hide Table
Subcellular Location
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR013032 EGF-like, conserved siteSiteConserved site
IPR017878 TB domainDomainDomain
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR036773 TGF-beta binding (TB) domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613177 OMIMUrban-Rifkin-Davis syndrome (URDS)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. The disease is caused by variants affecting the gene represented in this entry.
310200 OMIMDuchenne muscular dystrophy (DMD)Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. The gene represented in this entry may act as a disease modifier. DMD patients homozygous for the IAAM haplotype consisting of Ile-194, Ala-787, Ala-820 and Met-1141 remain ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype consisting of Val-194, Thr-787, Thr-820 and Thr-1141. This may be due to increased binding to TGFB1, resulting in TGFB1 sequestration in the extracellular matrix and reduced TGFB1 signaling which has been linked to improved muscle function and regeneration.