Tll1 tolloid-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tll1provided by MGI
Official Full Name: tolloid-likeprovided by MGI
Primary source: MGI:MGI:106923
See related: Ensembl:ENSMUSG00000053626 AllianceGenome:MGI:106923
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: Tll; Tll-1; b2b2476Clo
Summary: Enables collagen binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within cell differentiation. Predicted to be located in extracellular region. Is expressed in several structures, including brain; cardiovascular system; hepatic primordium; sclerotome condensation; and trachea mesenchyme. Human ortholog(s) of this gene implicated in atrial heart septal defect 6. Orthologous to human TLL1 (tolloid like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 2.0), limb E14.5 (RPKM 0.7) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.1; 8 32.19 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (64466132..64659043, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (64013098..64206008, complement)

Chromosome 8 - NC_000074.7 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?

Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
Title: Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
Loss of BMP1-like proteinase activity is shown to result in markedly thinned and fragile skin with unusually densely packed collagen fibrils and delayed wound healing.
Title: BMP1-like proteinases are essential to the structure and wound healing of skin.
plays crucial role in maintaining extracellular matrix homeostasis essential to root formation and dentin mineralization
Title: Essential Roles of Bone Morphogenetic Protein-1 and Mammalian Tolloid-like 1 in Postnatal Root Dentin Formation.
the proteinases encoded by Bmp1 and Tll1 genes play essential roles in the development and maintenance of mouse dentin and periodontal ligaments.
Title: Inactivation of bone morphogenetic protein 1 (Bmp1) and tolloid-like 1 (Tll1) in cells expressing type I collagen leads to dental and periodontal defects in mice.
The presented data demonstrate Bmp1/Tll1 products to be of profound importance to bone growth and modeling.
Title: Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.
TLL1 mRNA levels significantly increased in the tibialis anterior muscle with 3 days of hindlimb suspension and significantly decreased in response to 2 days of food deprivation.
Title: Skeletal muscle expression of bone morphogenetic protein-1 and tolloid-like-1 extracellular proteases in different fiber types and in response to unloading, food deprivation and differentiation.
The results show that Nkx2-5 is a direct activator of Tll-1 expression and provide insight into the mechanism of the defects found in both the Tll-1 and Nkx2-5 knockout mice.
Title: Activation of Tolloid-like 1 gene expression by the cardiac specific homeobox gene Nkx2-5.
products of Bmp1 and Tll1 are responsible for in vivo cleavage of Chordin in mammals
Title: Use of Bmp1/Tll1 doubly homozygous null mice and proteomics to identify and validate in vivo substrates of bone morphogenetic protein 1/tolloid-like metalloproteinases.

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Variation

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Alleles

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

Targeted (4) 1 citation
Chemically induced (ENU) (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tll (e-PCR), detects polymorphism
- UniSTS:144637

Tll (e-PCR), detects polymorphism
- UniSTS:144638

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tolloid-like protein 1

NP_001411845.1

EC 3.4.24.-

NP_033416.2

EC 3.4.24.-

XP_006509378.1

EC 3.4.24.-

XP_011240487.1

EC 3.4.24.-

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_001424916.1 → NP_001411845.1 tolloid-like protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC110622, AC147185, AC149051
NM_009390.4 → NP_033416.2 tolloid-like protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_033416.2

Status: VALIDATED

Source sequence(s)

AC110622, AC147185, AC149051

Consensus CDS

CCDS40352.1

UniProtKB/Swiss-Prot

Q3UTT9, Q62381, Q8BNP5

UniProtKB/TrEMBL

G3X9F5

Related

ENSMUSP00000070560.5, ENSMUST00000066166.6

Conserved Domains (4) summary

cd04281
Location:148 → 347

ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...

pfam00431
Location:462 → 571

CUB; CUB domain

pfam01400
Location:155 → 348

Astacin; Astacin (Peptidase family M12A)

pfam14670
Location:734 → 769

FXa_inhibition; Coagulation Factor Xa inhibitory site

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_000074.7 Reference GRCm39 C57BL/6J

Range

64466132..64659043 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011242185.3 → XP_011240487.1 tolloid-like protein 1 isoform X2

Conserved Domains (3) summary

pfam00431
Location:176 → 285

CUB; CUB domain

pfam14670
Location:448 → 483

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00064
Location:20 → 61

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
XM_006509315.4 → XP_006509378.1 tolloid-like protein 1 isoform X3

Conserved Domains (3) summary

pfam00431
Location:69 → 178

CUB; CUB domain

pfam14670
Location:341 → 376

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00049
Location:1 → 65

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.