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

Summary

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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Loss of Ltbp-3 is associated with lung alveolar septation and developmental emphysema.
Title: Lung alveolar septation defects in Ltbp-3-null mice.
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.

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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

RH127141 (e-PCR)
- UniSTS:209413

RH143828 (e-PCR)
- UniSTS:233074

L40459 (e-PCR)
- UniSTS:181158

Ltbp3 (e-PCR), detects polymorphism
- UniSTS:143796

Ltbp3 (e-PCR), detects polymorphism
- UniSTS:143797

Ltbp3 (e-PCR), detects polymorphism
- UniSTS:143798

RH142164 (e-PCR)
- UniSTS:231416

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)

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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

5790928..5808564

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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