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Aliases for TLL1 Gene

Aliases for TLL1 Gene

  • Tolloid-Like 1 2 3
  • TLL 3 4 6
  • ASD6 3 6
  • Tolloid-Like Protein 1 3
  • EC 3.4.24.19 64
  • EC 3.4.24.- 4
  • EC 3.4.24 64

External Ids for TLL1 Gene

Summaries for TLL1 Gene

Entrez Gene Summary for TLL1 Gene

  • This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for TLL1 Gene

TLL1 (Tolloid-Like 1) is a Protein Coding gene. Diseases associated with TLL1 include atrial septal defect 6 and atrial septal defect ostium primum. Among its related pathways are Degradation of the extracellular matrix and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and collagen binding. An important paralog of this gene is MFRP.

UniProtKB/Swiss-Prot for TLL1 Gene

  • Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis

Gene Wiki entry for TLL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLL1 Gene

Genomics for TLL1 Gene

Genomic Location for TLL1 Gene

Start:
165,873,238 bp from pter
End:
166,105,178 bp from pter
Size:
231,941 bases
Orientation:
Plus strand

Genomic View for TLL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLL1 Gene

Regulatory Elements for TLL1 Gene

Proteins for TLL1 Gene

  • Protein details for TLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43897-TLL1_HUMAN
    Recommended name:
    Tolloid-like protein 1
    Protein Accession:
    O43897
    Secondary Accessions:
    • B2RMU2
    • Q96AN3
    • Q9NQS4

    Protein attributes for TLL1 Gene

    Size:
    1013 amino acids
    Molecular mass:
    114709 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TLL1 Gene

    Alternative splice isoforms for TLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLL1 Gene

Proteomics data for TLL1 Gene at MOPED

Post-translational modifications for TLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn169, Asn359, Asn390, and Asn626

Other Protein References for TLL1 Gene

Domains for TLL1 Gene

UniProtKB/Swiss-Prot:

TLL1_HUMAN
Domain:
  • Contains 5 CUB domains.:
    • O43897
  • Contains 2 EGF-like domains.:
    • O43897
Family:
  • Belongs to the peptidase M12A family.:
    • O43897
genes like me logo Genes that share domains with TLL1: view

No data available for Gene Families for TLL1 Gene

Function for TLL1 Gene

Molecular function for TLL1 Gene

GENATLAS Biochemistry: tolloid-like gene 1,astacin-like matalloprotease necessary for normal septation and positioning of the heart
UniProtKB/Swiss-Prot Function: Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis

Enzyme Numbers (IUBMB) for TLL1 Gene

Gene Ontology (GO) - Molecular Function for TLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0005518 collagen binding IEA --
GO:0008237 metallopeptidase activity --
genes like me logo Genes that share ontologies with TLL1: view
genes like me logo Genes that share phenotypes with TLL1: view

Animal Models for TLL1 Gene

MGI Knock Outs for TLL1:

miRNA for TLL1 Gene

miRTarBase miRNAs that target TLL1

No data available for Transcription Factor Targeting and HOMER Transcription for TLL1 Gene

Localization for TLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TLL1 Gene COMPARTMENTS Subcellular localization image for TLL1 gene
Compartment Confidence
extracellular 4
cytosol 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with TLL1: view

Pathways for TLL1 Gene

genes like me logo Genes that share pathways with TLL1: view

Gene Ontology (GO) - Biological Process for TLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 8661043
GO:0006508 proteolysis IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030154 cell differentiation IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with TLL1: view

Transcripts for TLL1 Gene

Unigene Clusters for TLL1 Gene

Tolloid-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TLL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: - -
SP2: -
SP3:

Relevant External Links for TLL1 Gene

GeneLoc Exon Structure for
TLL1
ECgene alternative splicing isoforms for
TLL1

Expression for TLL1 Gene

mRNA expression in normal human tissues for TLL1 Gene

mRNA differential expression in normal tissues according to GTEx for TLL1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (7.2) and Brain - Cerebellum (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TLL1 Gene

SOURCE GeneReport for Unigene cluster for TLL1 Gene Hs.106513

genes like me logo Genes that share expressions with TLL1: view

Orthologs for TLL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLL1 36
  • 99.31 (n)
  • 99.8 (a)
TLL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TLL1 36
  • 91.02 (n)
  • 93.78 (a)
TLL1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TLL1 36
  • 91.07 (n)
  • 97.07 (a)
TLL1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tll1 36
  • 88.7 (n)
  • 93.77 (a)
Tll1 16
Tll1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TLL1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TLL1 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tll1 36
  • 87.78 (n)
  • 93.68 (a)
chicken
(Gallus gallus)
Aves TLL1 36
  • 82.9 (n)
  • 88.39 (a)
TLL1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TLL1 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16598 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495742 36
  • 79.28 (n)
  • 87.54 (a)
zebrafish
(Danio rerio)
Actinopterygii bmp1 36
tll1 36
  • 73.67 (n)
  • 81.76 (a)
tll1 37
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003702 36
  • 56.71 (n)
  • 57.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta tld 37
  • 40 (a)
ManyToMany
tok 36
  • 54.88 (n)
  • 53.6 (a)
tok 37
  • 34 (a)
ManyToMany
tok 38
  • 51 (a)
tld 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea nas-39 36
  • 51.94 (n)
  • 47.71 (a)
nas-39 37
  • 44 (a)
OneToMany
T04G9.2 38
  • 39 (a)
K04E7.3 38
  • 30 (a)
toh-2 38
  • 30 (a)
Y95B8A.1 38
  • 34 (a)
C07D10.4 38
  • 35 (a)
F38E9.2 38
  • 41 (a)
F09E8.6 38
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for TLL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TLL1 Gene

ENSEMBL:
Gene Tree for TLL1 (if available)
TreeFam:
Gene Tree for TLL1 (if available)

Paralogs for TLL1 Gene

Paralogs for TLL1 Gene

Pseudogenes.org Pseudogenes for TLL1 Gene

genes like me logo Genes that share paralogs with TLL1: view

Variants for TLL1 Gene

Sequence variations from dbSNP and Humsavar for TLL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs517566 -- 165,917,512(+) TAAAC(G/T)TAGAC intron-variant
rs719753 -- 165,872,049(+) TGAAT(A/G)AAACC upstream-variant-2KB
rs870766 -- 165,943,932(-) TATGT(A/C)CAACC intron-variant
rs873242 -- 165,943,957(-) TTTAT(C/T)TGAAA intron-variant
rs873243 -- 165,943,872(-) TACCA(C/T)GATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TLL1 Gene

Variant ID Type Subtype PubMed ID
nsv880566 CNV Loss 21882294
nsv4590 CNV Insertion 18451855
nsv821638 CNV Loss 15273396
esv2673253 CNV Deletion 23128226
nsv830142 CNV Loss 17160897
esv1005389 CNV Insertion 20482838
nsv513176 CNV Loss 21212237
esv4074 CNV Deletion 18987735
esv2728689 CNV Deletion 23290073
esv7036 CNV Loss 19470904
nsv292670 CNV Loss 16902084
esv22616 CNV Loss 19812545
nsv821532 CNV Deletion 20802225
nsv291079 CNV Insertion 16902084

Relevant External Links for TLL1 Gene

HapMap Linkage Disequilibrium report
TLL1
Human Gene Mutation Database (HGMD)
TLL1

Disorders for TLL1 Gene

(1) OMIM Diseases for TLL1 Gene (606742)

UniProtKB/Swiss-Prot

TLL1_HUMAN
  • Atrial septal defect 6 (ASD6) [MIM:613087]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269 PubMed:18830233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TLL1 Gene

Relevant External Links for TLL1

Genetic Association Database (GAD)
TLL1
Human Genome Epidemiology (HuGE) Navigator
TLL1
genes like me logo Genes that share disorders with TLL1: view

Publications for TLL1 Gene

  1. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PMID: 18824173) Mac Sweeney A. … Gerhartz B. (J. Mol. Biol. 2008) 3 4 23
  2. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. (PMID: 18830233) Stanczak P. … Sieron A.L. (Eur. J. Hum. Genet. 2009) 3 4 23
  3. Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis. (PMID: 10479448) Scott I.C. … Greenspan D.S. (Dev. Biol. 1999) 3 4
  4. Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33 and 10q23-->q24 and assignment of murine Tll2 to chromosome 19. (PMID: 10516436) Scott I.C. … Greenspan D.S. (Cytogenet. Cell Genet. 1999) 2 3
  5. Bone morphogenetic protein-1 processes probiglycan. (PMID: 10896944) Scott I.C. … Greenspan D.S. (J. Biol. Chem. 2000) 3 4

Products for TLL1 Gene

Sources for TLL1 Gene

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