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Ltbp4 latent transforming growth factor beta binding protein 4 [ Mus musculus (house mouse) ]

Gene ID: 108075, updated on 5-Mar-2024

Summary

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Official Symbol
Ltbp4provided by MGI
Official Full Name
latent transforming growth factor beta binding protein 4provided by MGI
Primary source
MGI:MGI:1321395
See related
Ensembl:ENSMUSG00000040488 AllianceGenome:MGI:1321395
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
2310046A13Rik
Summary
Predicted to enable transforming growth factor beta binding activity. Involved in elastic fiber assembly. Acts upstream of or within hormone secretion and transforming growth factor beta receptor signaling pathway. Located in microfibril. Is expressed in aorta; blood vessel; ovary; and oviduct. Used to study cutis laxa. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IC. Orthologous to human LTBP4 (latent transforming growth factor beta binding protein 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 180.5), ovary adult (RPKM 138.8) and 17 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 A3; 7 15.87 cM
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (27004566..27039142, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27305140..27339720, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2229 Neighboring gene coenzyme Q8B Neighboring gene STARR-positive B cell enhancer ABC_E4906 Neighboring gene numb-like Neighboring gene ribosomal protein L14 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18356 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28101108-28101366 Neighboring gene STARR-positive B cell enhancer ABC_E4907 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28117793-28117976 Neighboring gene predicted gene, 30543 Neighboring gene STARR-positive B cell enhancer ABC_E1726 Neighboring gene STARR-positive B cell enhancer ABC_E1727 Neighboring gene Sh3kbp1 binding protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E2820 Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene STARR-seq mESC enhancer starr_18360 Neighboring gene STARR-positive B cell enhancer ABC_E4908

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. Fibulin-4 exerts a dual role in LTBP-4L-mediated matrix assembly and function. Kumra H, et al. Proc Natl Acad Sci U S A, 2019 Oct 8. PMID 31548410, Free PMC Article
  2. LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure. Su CT, et al. Cell Death Dis, 2021 Oct 13. PMID 34645813, Free PMC Article
  3. Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects. Colella P, et al. EBioMedicine, 2020 Nov. PMID 33039711, Free PMC Article
  4. Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development. Fujikawa Y, et al. Sci Rep, 2017 Mar 2. PMID 28252045, Free PMC Article
  5. Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption. Demonbreun AR, et al. Am J Pathol, 2016 Jun. PMID 27070822, Free PMC Article

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
    Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
  2. LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
    Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
  3. an AMPK-LTBP4 axis in inflammatory macrophages controls the production of TGF-beta1, which is further activated by and acts on fibroblastic cells, leading to fibrosis in Duchenne muscular dystrophy.
    Title: AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy.
  4. These data suggest that LTBP-2 and -4 have critical overlapping functions in forming the robust structure of microfibrils in vitro and in vivo.
    Title: Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development.
  5. Ltbp4 regulates Pdgfrb expression via TGFbeta-dependent modulation of Nrf2 transcription factor function.
    Title: Ltbp4 regulates Pdgfrβ expression via TGFβ-dependent modulation of Nrf2 transcription factor function.
  6. These data clearly establish a functional link between Ltbp-4L and fibulin-4 as a crucial molecular requirement for survival and elastogenesis in mice.
    Title: Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.
  7. Anxa6 and Ltbp4 isoforms modify the extent of damage in acute muscle injury in an additive fashion, and the severe isoform of Ltbp4, characteristic of the DBA/2J genetic background, correlated with upregulation of Slug and Snail, and downregulation of Anxa1 and Anxa6.
    Title: Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.
  8. Low LTBP4 expression is associated with lung fibrosis.
    Title: Role of LTBP4 in alveolarization, angiogenesis, and fibrosis in lungs.
  9. we found that myostatin forms a complex with LTBP4 and that overexpression of LTBP4 led to a decrease in myostatin levels. LTBP4 also interacted with TGFbeta and GDF11, a protein highly related to myostatin. These data identify LTBP4 as a multi-TGFbeta family ligand binding protein with the capacity to modify muscle disease through overexpression
    Title: Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ.
  10. Ltbp-4L expression is essential for incorporation of fibulin-4 into the extracellular matrix.
    Title: Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC175966

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in elastic fiber assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within hormone secretion 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 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular matrix ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in microfibril IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
latent-transforming growth factor beta-binding protein 4
Names
LTBP-4

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_001113549.1 → NP_001107021.1  latent-transforming growth factor beta-binding protein 4 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AF410799, BC059016, BP765237, BY740857
    Consensus CDS
    CCDS52158.1
    UniProtKB/TrEMBL
    D3Z598
    Related
    ENSMUSP00000113674.2, ENSMUST00000121175.8
    Conserved Domains (4) summary
    smart00179
    Location:854 → 890
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:811 → 843
    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:351 → 386
    TB; TB domain
    pfam12662
    Location:544 → 567
    cEGF; Complement Clr-like EGF-like

  2. NM_001310678.1 → NP_001297607.1  latent-transforming growth factor beta-binding protein 4 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in both the 5' and 3' UTRs and coding region compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC157561, AK147753
    Consensus CDS
    CCDS80683.1
    UniProtKB/TrEMBL
    Q3UGU1
    Related
    ENSMUST00000206413.2
    Conserved Domains (4) summary
    smart00179
    Location:854 → 890
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:811 → 843
    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:351 → 386
    TB; TB domain
    pfam12662
    Location:544 → 567
    cEGF; Complement Clr-like EGF-like

  3. NM_175641.2 → NP_783572.2  latent-transforming growth factor beta-binding protein 4 isoform a precursor

    See identical proteins and their annotated locations for NP_783572.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF410798, BC059016, BP765237
    Consensus CDS
    CCDS21017.1
    UniProtKB/Swiss-Prot
    E9QPD9, Q8K4G0, Q8K4G1
    UniProtKB/TrEMBL
    B2RU79
    Related
    ENSMUSP00000037536.7, ENSMUST00000038618.13
    Conserved Domains (5) summary
    smart00179
    Location:920 → 956
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:877 → 909
    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:417 → 458
    TB; TB domain
    pfam12662
    Location:610 → 633
    cEGF; Complement Clr-like EGF-like
    cl21504
    Location:1133 → 1161
    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 ...

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    27004566..27039142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539458.4 → XP_006539521.1  latent-transforming growth factor beta-binding protein 4 isoform X3

    UniProtKB/TrEMBL
    B2RU79
    Conserved Domains (4) summary
    smart00179
    Location:793 → 829
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:750 → 782
    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:290 → 332
    TB; TB domain
    pfam12662
    Location:483 → 506
    cEGF; Complement Clr-like EGF-like

  2. XM_030241972.2 → XP_030097832.1  latent-transforming growth factor beta-binding protein 4 isoform X4

    UniProtKB/TrEMBL
    E9QPS5
    Conserved Domains (4) summary
    smart00179
    Location:728 → 764
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:685 → 717
    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:225 → 267
    TB; TB domain
    pfam12662
    Location:418 → 441
    cEGF; Complement Clr-like EGF-like

  3. XM_006539457.5 → XP_006539520.1  latent-transforming growth factor beta-binding protein 4 isoform X2

    UniProtKB/TrEMBL
    B2RU79
    Conserved Domains (4) summary
    smart00179
    Location:920 → 956
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:877 → 909
    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:417 → 459
    TB; TB domain
    pfam12662
    Location:610 → 633
    cEGF; Complement Clr-like EGF-like

  4. XM_036152563.1 → XP_036008456.1  latent-transforming growth factor beta-binding protein 4 isoform X1

    UniProtKB/TrEMBL
    B2RU79
    Conserved Domains (4) summary
    smart00179
    Location:889 → 925
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:846 → 878
    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:386 → 428
    TB; TB domain
    pfam12662
    Location:579 → 602
    cEGF; Complement Clr-like EGF-like
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K4G1.2 GenPept UniProtKB/Swiss-Prot:Q8K4G1

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