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Ltbp3 latent transforming growth factor beta binding protein 3 [ Mus musculus (house mouse) ]

Gene ID: 16998, updated on 21-Apr-2024

Summary

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Official Symbol
Ltbp3provided by MGI
Official Full Name
latent transforming growth factor beta binding protein 3provided by MGI
Primary source
MGI:MGI:1101355
See related
Ensembl:ENSMUSG00000024940 AllianceGenome:MGI:1101355
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ltbp2; mFLJ00070
Summary
Predicted to enable transforming growth factor beta binding activity. Acts upstream of or within several processes, including negative regulation of bone mineralization; negative regulation of chondrocyte differentiation; and positive regulation of bone resorption. Located in extracellular region. Is expressed in several structures, including cardiovascular system; jaw; limb; respiratory system; and ventricular layer. Used to study brachyolmia-amelogenesis imperfecta syndrome. Human ortholog(s) of this gene implicated in brachyolmia-amelogenesis imperfecta syndrome and geleophysic dysplasia 3. Orthologous to human LTBP3 (latent transforming growth factor beta binding protein 3). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information
Note: This gene (GeneID: 16998) was identified as Ltbp2 in PMID: 7719025. The official symbol for this gene is Ltbp3. [27 Jan 2017]
Expression
Biased expression in adrenal adult (RPKM 141.5), ovary adult (RPKM 97.4) and 14 other tissues See more
Orthologs
human all
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Genomic context

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Location:
19 A; 19 4.34 cM
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (5790928..5808564)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (5740900..5758536)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 89, member B Neighboring gene zinc ribbon domain containing 2 Neighboring gene SCY1-like 1 (S. cerevisiae) Neighboring gene STARR-positive B cell enhancer ABC_E1970 Neighboring gene STARR-seq mESC enhancer starr_45401 Neighboring gene Malat1-associated small cytoplasmic RNA Neighboring gene STARR-positive B cell enhancer ABC_E5679 Neighboring gene metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) Neighboring gene STARR-seq mESC enhancer starr_45402 Neighboring gene nuclear paraspeckle assembly transcript 1 (non-protein coding) Neighboring gene STARR-seq mESC enhancer starr_45410 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:5844330-5844513 Neighboring gene STARR-seq mESC enhancer starr_45411

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice. Morkmued S, et al. Eur J Oral Sci, 2017 Feb. PMID 28084688, Free PMC Article
  2. Growth retardation as well as spleen and thymus involution in latent TGF-beta binding protein (Ltbp)-3 null mice. Chen Y, et al. J Cell Physiol, 2003 Aug. PMID 12811825
  3. Alternative splicing of LTBP-3. Yin W, et al. Biochem Biophys Res Commun, 1998 Apr 17. PMID 9571174
  4. The role of Ig beta in precursor B cell transition and allelic exclusion. Papavasiliou F, et al. Science, 1995 Apr 21. PMID 7716544
  5. Latent transforming growth factor β binding protein 3 controls adipogenesis. Singh K, et al. Matrix Biol, 2022 Sep. PMID 35933071

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this study demonstrates that LTBP-3/TGFbeta directly affects the biomechanical function of the thoracic aorta.
    Title: Absence of LTBP-3 attenuates the aneurysmal phenotype but not spinal effects on the aorta in Marfan syndrome.
  2. Marfan syndrome mice lacking LTBP-3 have improved survival, essentially no aneurysms, reduced disruption and fragmentation of medial elastic fibers, and decreased Smad2/3 and Erk1/2 activation in their aortas.
    Title: Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome.
  3. Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
    Title: Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
  4. These data indicate that LTBP-3 and -4 perform partially overlapping functions only in the lungs.
    Title: Control of lung development by latent TGF-β binding proteins.
  5. The secretion of LTBP-3 requires complexing of LTBP-3 with Cys33 of the TGF-beta propeptide.
    Title: Latent TGF-beta binding protein-3 (LTBP-3) requires binding to TGF-beta for secretion.
  6. Lack of Ltbp-3 results in decreased levels of TGF-beta in bone and cartilage, which leads to compromised osteoclast function and decreased bone turnover.
    Title: Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice.
  7. Disruption of Ltbp-3 gene by homologous recombination in mice yields mutant animals displaying multiple skeletal abnormalities and retarded growth. Severe involution of thymus and spleen and reduction in CD4/CD8 double positive T-cells in thymus.
    Title: Growth retardation as well as spleen and thymus involution in latent TGF-beta binding protein (Ltbp)-3 null mice.
  8. Loss of Ltbp-3 is associated with lung alveolar septation and developmental emphysema.
    Title: Lung alveolar septation defects in Ltbp-3-null mice.
  9. Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability
    Title: Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
  
enables transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of bone mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within bone remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lung saccule development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of bone resorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mesenchymal stem cell differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of mesenchymal stem cell proliferation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular matrix ISA
Inferred from Sequence Alignment
more info
 PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
latent-transforming growth factor beta-binding protein 3
Names
LTBP-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008520.3 → NP_032546.2  latent-transforming growth factor beta-binding protein 3 precursor

    See identical proteins and their annotated locations for NP_032546.2

    Status: VALIDATED

    Source sequence(s)
    AC134563
    Consensus CDS
    CCDS37891.1
    UniProtKB/Swiss-Prot
    F8VQ06, Q61810, Q8BNQ6
    UniProtKB/TrEMBL
    Q6KAT1
    Related
    ENSMUSP00000080214.6, ENSMUST00000081496.6
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:412 → 453
    TB; TB domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    5790928..5808564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006531668.4 → XP_006531731.1  latent-transforming growth factor beta-binding protein 3 isoform X1

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  2. XM_036161454.1 → XP_036017347.1  latent-transforming growth factor beta-binding protein 3 isoform X5

    UniProtKB/Swiss-Prot
    F8VQ06, Q61810, Q8BNQ6
    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:412 → 453
    TB; TB domain

  3. XM_006531671.4 → XP_006531734.1  latent-transforming growth factor beta-binding protein 3 isoform X4

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  4. XM_017318071.3 → XP_017173560.1  latent-transforming growth factor beta-binding protein 3 isoform X7

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  5. XM_006531672.4 → XP_006531735.1  latent-transforming growth factor beta-binding protein 3 isoform X6

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  6. XM_017318072.3 → XP_017173561.1  latent-transforming growth factor beta-binding protein 3 isoform X8

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  7. XM_017318073.3 → XP_017173562.1  latent-transforming growth factor beta-binding protein 3 isoform X10

    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:657 → 691
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 453
    TB; TB domain

  8. XM_006531669.4 → XP_006531732.1  latent-transforming growth factor beta-binding protein 3 isoform X2

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:352 → 387
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:656 → 690
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:411 → 452
    TB; TB domain

  9. XM_006531670.4 → XP_006531733.1  latent-transforming growth factor beta-binding protein 3 isoform X3

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:335 → 370
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:640 → 674
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:394 → 436
    TB; TB domain

  10. XM_006531673.3 → XP_006531736.1  latent-transforming growth factor beta-binding protein 3 isoform X9

    UniProtKB/TrEMBL
    Q6KAT1
    Conserved Domains (3) summary
    smart00179
    Location:164 → 199
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:469 → 503
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:223 → 265
    TB; TB domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q61810.4 GenPept UniProtKB/Swiss-Prot:Q61810

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