Ltbp1 latent transforming growth factor beta binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ltbp1provided by MGI
Official Full Name: latent transforming growth factor beta binding protein 1provided by MGI
Primary source: MGI:MGI:109151
See related: Ensembl:ENSMUSG00000001870 AllianceGenome:MGI:109151
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: Tgfb; Ltbp-1; Ltbp1L; 9830146M04; b2b1000Clo; 9430031G15Rik; TGF-beta1-BP-1
Summary: Predicted to enable microfibril binding activity and transforming growth factor beta binding activity. Acts upstream of or within aorta development; coronary vasculature development; and ventricular septum development. Located in microfibril. Is expressed in several structures, including embryo mesenchyme; genitourinary system; heart; integumental system; and neural ectoderm. Human ortholog(s) of this gene implicated in cutis laxa. Orthologous to human LTBP1 (latent transforming growth factor beta binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 29.6), limb E14.5 (RPKM 18.7) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E2; 17 46.24 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (75312475..75699507)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (75005480..75392512)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

LTBP1 Gene Expression in the Cerebral Cortex and its Neuroprotective Mechanism in Mice with Postischemic Stroke Epilepsy.
Title: LTBP1 Gene Expression in the Cerebral Cortex and its Neuroprotective Mechanism in Mice with Postischemic Stroke Epilepsy.
Fibulin-1c regulates transforming growth factor-beta activation in pulmonary tissue fibrosis.
Title: Fibulin-1c regulates transforming growth factor-β activation in pulmonary tissue fibrosis.
LTBP1 has a role in female reproduction
Title: Latent TGF-β binding protein-1 deficiency decreases female fertility.
Data show the complete knockout of both isoforms of LTBP-1 leads to defective cardiovascular development and subsequent perinatal lethality supporting the idea that LTBP-1 is essential in the development of the great arteries and cardiac cushions.
Title: Abrogation of both short and long forms of latent transforming growth factor-β binding protein-1 causes defective cardiovascular development and is perinatally lethal.
Ltbp1 functions in a mechanosensory capacity to establish and maintain mammary gland ductal luminal cell fate, support and detect ductal distension, trigger irreversible involution, and facilitate nipple sphincter function.
Title: Ltbp1L is focally induced in embryonic mammary mesenchyme, demarcates the ductal luminal lineage and is upregulated during involution.
a detailed computational model for TGF-beta signalling that incorporates elements of previous models together with crosstalking between Smad1/5/8 and Smad2/3 channels through a negative feedback loop dependent on Smad7.
Title: Computational modelling of Smad-mediated negative feedback and crosstalk in the TGF-β superfamily network.
miR-133a mediates TGF-beta-dependent derepression of collagen synthesis in hepatic stellate cells during liver fibrosis.
Title: miR-133a mediates TGF-β-dependent derepression of collagen synthesis in hepatic stellate cells during liver fibrosis.
Induction of both Th17-producing cells and Tregs is caused preferentially by Tregs expressing the latent TGF-beta1/GARP complex on their cell surface rather than by secreted latent TGF-beta1.
Title: Regulation of the expression of GARP/latent TGF-β1 complexes on mouse T cells and their role in regulatory T cell and Th17 differentiation.
High transforming Growth Factor beta1 expression is associated with myelofibrosis.
Title: Characterization of the TGF-β1 signaling abnormalities in the Gata1low mouse model of myelofibrosis.
results suggest a role for VEGFA-driven tumour growth by TGF-beta signalling inhibition via paracrine mechanisms in vivo
Title: Stromal interaction essential for vascular endothelial growth factor A-induced tumour growth via transforming growth factor-β signalling.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

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

Gene trapped (1)
Targeted (6) 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

D17Mit219 (e-PCR), detects polymorphism
- UniSTS:128035

NoName (e-PCR)
- UniSTS:224340

Ltbp1 (e-PCR), detects polymorphism
- UniSTS:536436

NoName (e-PCR)
- UniSTS:237697

39.MMHAP36FRE12.seq (e-PCR)
- UniSTS:160694

D17Mit111 (e-PCR), detects polymorphism
- UniSTS:127947

RH124446 (e-PCR)
- UniSTS:161268

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 microfibril binding	IBA Inferred from Biological aspect of Ancestor more info
enables microfibril binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in sequestering of TGFbeta in extracellular matrix	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within ventricular septum development	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	ISO Inferred from Sequence Orthology more info
located_in dendrite	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
part_of large latent transforming growth factor-beta complex	ISO Inferred from Sequence Orthology more info
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: latent-transforming growth factor beta-binding protein 1

Names: latent TGF beta binding protein; latent transforming growth factor beta binding protein 1L; transforming growth factor beta-1-binding protein 1

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_001331233.1 → NP_001318162.1 latent-transforming growth factor beta-binding protein 1 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC118018, AC154491, CT033758

UniProtKB/TrEMBL

A0A3Q4EGK3
NM_001331234.1 → NP_001318163.1 latent-transforming growth factor beta-binding protein 1 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC118018, AC154491, CT033758
NM_001331235.1 → NP_001318164.1 latent-transforming growth factor beta-binding protein 1 isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AC118018, AC154491, CT033758
NM_001331236.1 → NP_001318165.1 latent-transforming growth factor beta-binding protein 1 isoform 6 precursor

Status: VALIDATED

Source sequence(s)

AC118018, AC154491, CT033758
NM_001331237.1 → NP_001318166.1 latent-transforming growth factor beta-binding protein 1 isoform 7 precursor

Status: VALIDATED

Source sequence(s)

AC118018, AC154491, CT033758

Consensus CDS

CCDS84336.1

UniProtKB/Swiss-Prot

Q8CG19

Related

ENSMUSP00000108133.2, ENSMUST00000112514.2
NM_019919.4 → NP_064303.2 latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor

See identical proteins and their annotated locations for NP_064303.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longest transcript and it encodes the longest isoform (LTBP-1L).

Source sequence(s)

AC118018, AC126550, AC154178, AC154491, CT033758

Consensus CDS

CCDS28973.1

UniProtKB/Swiss-Prot

B1B1D9, B1B1E1, O88349, Q505C9, Q8BNW7, Q8C7F5, Q8CG18, Q8CG19, Q8CIR0

UniProtKB/TrEMBL

A0A3Q4EGK3

Related

ENSMUSP00000001927.6, ENSMUST00000001927.12

Conserved Domains (4) summary

smart00179
Location:1194 → 1235

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:990 → 1023

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:681 → 716

TB; TB domain

pfam07645
Location:907 → 947

EGF_CA; Calcium-binding EGF domain
NM_206958.3 → NP_996841.1 latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor

See identical proteins and their annotated locations for NP_996841.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and has an alternate 5' coding segment, compared to variant 1. The encoded isoform (LTBP-1S) has a shorter and distinct N-terminus when compared to isoform LTBP-1L.

Source sequence(s)

AC118018, AC154491, CT033758

Consensus CDS

CCDS37694.1

UniProtKB/TrEMBL

A0A3Q4EGK3

Related

ENSMUSP00000108135.2, ENSMUST00000112516.8

Conserved Domains (4) summary

smart00179
Location:876 → 917

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:672 → 705

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:363 → 398

TB; TB domain

pfam07645
Location:589 → 629

EGF_CA; Calcium-binding EGF 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_000083.7 Reference GRCm39 C57BL/6J

Range

75312475..75699507

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524348.4 → XP_006524411.1 latent-transforming growth factor beta-binding protein 1 isoform X1

UniProtKB/TrEMBL

A0A3Q4EGK3

Related

ENSMUSP00000157016.2, ENSMUST00000234490.2

Conserved Domains (6) summary

smart00179
Location:1193 → 1234

EGF_CA; Calcium-binding EGF-like domain

PRK03427
Location:732 → 861

PRK03427; cell division protein ZipA; Provisional

cd00054
Location:989 → 1022

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 ...

pfam07645
Location:906 → 946

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:681 → 722

TB; TB domain

pfam12662
Location:887 → 909

cEGF; Complement Clr-like EGF-like
XM_030249831.1 → XP_030105691.1 latent-transforming growth factor beta-binding protein 1 isoform X3

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (6) summary

smart00179
Location:1193 → 1234

EGF_CA; Calcium-binding EGF-like domain

PRK03427
Location:732 → 861

PRK03427; cell division protein ZipA; Provisional

cd00054
Location:989 → 1022

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 ...

pfam07645
Location:906 → 946

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:681 → 722

TB; TB domain

pfam12662
Location:887 → 909

cEGF; Complement Clr-like EGF-like
XM_006524350.4 → XP_006524413.1 latent-transforming growth factor beta-binding protein 1 isoform X4

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (5) summary

smart00179
Location:1141 → 1182

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:937 → 970

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 ...

pfam07645
Location:854 → 894

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1297 → 1340

TB; TB domain

pfam12662
Location:835 → 857

cEGF; Complement Clr-like EGF-like
XM_017317493.2 → XP_017172982.1 latent-transforming growth factor beta-binding protein 1 isoform X7

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (5) summary

smart00179
Location:1141 → 1182

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:937 → 970

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 ...

pfam07645
Location:854 → 894

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1255 → 1298

TB; TB domain

pfam12662
Location:835 → 857

cEGF; Complement Clr-like EGF-like
XM_036160631.1 → XP_036016524.1 latent-transforming growth factor beta-binding protein 1 isoform X5

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (5) summary

smart00179
Location:1140 → 1181

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:936 → 969

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 ...

pfam07645
Location:853 → 893

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1296 → 1339

TB; TB domain

pfam12662
Location:834 → 856

cEGF; Complement Clr-like EGF-like
XM_006524351.3 → XP_006524414.1 latent-transforming growth factor beta-binding protein 1 isoform X6

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (6) summary

smart00179
Location:1138 → 1179

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:647 → 804

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:934 → 967

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 ...

pfam07645
Location:851 → 891

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:625 → 666

TB; TB domain

pfam12662
Location:832 → 854

cEGF; Complement Clr-like EGF-like
XM_006524349.4 → XP_006524412.1 latent-transforming growth factor beta-binding protein 1 isoform X2

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (6) summary

smart00179
Location:1194 → 1235

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:703 → 860

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:990 → 1023

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 ...

pfam07645
Location:907 → 947

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:681 → 722

TB; TB domain

pfam12662
Location:888 → 910

cEGF; Complement Clr-like EGF-like
XM_006524353.2 → XP_006524416.1 latent-transforming growth factor beta-binding protein 1 isoform X8

UniProtKB/TrEMBL

A0A3Q4EGK3

Conserved Domains (6) summary

smart00179
Location:870 → 911

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:379 → 536

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:666 → 699

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 ...

pfam07645
Location:583 → 623

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:357 → 398

TB; TB domain

pfam12662
Location:564 → 586

cEGF; Complement Clr-like EGF-like