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Tll1
Gene Detail
Symbol

Name
ID
Tll1
tolloid-like
MGI:106923
Synonyms
Tll-1
Feature Type
protein coding gene
Genetic Map
Chromosome 8
32.19 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr8:64014770-64205993 bp, - strand
From Ensembl annotation of GRCm38

  191224 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:49202  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: TLL1
Protein SuperFamily: tolloid-like protein
Gene Tree: Tll1

Human
homologs
TLL1, tolloid-like 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7092
neXtProt AC: NX_O43897

Human Synonyms: ASD6, TLL

Human Chr (Location): 4q32-q33; chr4:165873238-166105178 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human TLL1

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.
 
Interactions
Tll1 interacts with 210 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell differentiation, multicellular organismal development, ...
Component extracellular region
Function calcium ion binding, collagen binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (66)    Tissues (57)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 56
RT-PCR 10
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tll1    NEW 
Molecular
reagents
All nucleic(11) Genomic(1) cDNA(8) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000053626 (Evidence)
Entrez Gene 21892 (Evidence)
DFCI TC1704765, TC1588560
DoTS DT.91334491
NIA Mouse Gene Index U029871
EC 3.4.24.-
Consensus CDS Project CCDS40352.1
International Mouse Phenotyping Consortium Status Tll1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000053626 Ensembl Gene Model | MGI Sequence Detail 191224 C57BL/6J ±  kb
transcript ENSMUST00000066166 Ensembl | MGI Sequence Detail 4928 Not Applicable 
polypeptide ENSMUSP00000070560 Ensembl | MGI Sequence Detail 1013 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(8) UniProt(2)
Polymorphisms
All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(1172 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015446 Bone morphogenetic protein 1/tolloid-like protein
InterPro IPR000859 CUB domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR024079 Metallopeptidase, catalytic domain
InterPro IPR001506 Peptidase M12A, astacin
InterPro IPR006026 Peptidase, metallopeptidase
Protein Ontology PR:000016379 tolloid-like protein 1
References
(Earliest) J:33379 Takahara K, et al., Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1. Genomics. 1996 1;34(2):157-65
(Latest) J:210366 Muir AM, et al., Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. Hum Mol Genet. 2014 Jun 15;23(12):3085-101
All references(40)
Other
accession IDs
MGD-MRK-35384

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory