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

Summary

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, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
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.
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.
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.
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.
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.
Low LTBP4 expression is associated with lung fibrosis.
Title: Role of LTBP4 in alveolarization, angiogenesis, and fibrosis in lungs.
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.
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)

Endonuclease-mediated (4)
Gene trapped (3) 1 citation
QTL (2) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

G67799 (e-PCR)
- UniSTS:225575

Ltbp4 (e-PCR), detects polymorphism
- UniSTS:527406

NoName (e-PCR)
- UniSTS:235627

NoName (e-PCR)
- UniSTS:225190

AW743298 (e-PCR)
- UniSTS:208092

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 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	IEA Inferred from Electronic Annotation 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 more info	PubMed
located_in collagen-containing extracellular matrix	IEA Inferred from Electronic Annotation more info
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 matrix	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

27004566..27039142 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

D3Z598

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
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
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