Property Summary

NCBI Gene PubMed Count 20
PubMed Score 23.37
PubTator Score 60.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.500 0.001
lung adenocarcinoma -1.400 0.000
group 3 medulloblastoma 1.400 0.013
non primary Sjogren syndrome sicca -1.200 0.021
lung carcinoma -1.300 0.000
non-small cell lung carcinoma -1.100 0.000
ovarian cancer -1.200 0.000

Synonym

Accession O43897 B2RMU2 Q96AN3 Q9NQS4
Symbols TLL
ASD6

Gene

PDB

3EDI  

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

 CSPA Cell Line (3)

Gene RIF (11)

PMID Text
25233961 This SNP [TLL1 gene ]could not be confirmed as a risk factor for CHD [coronary heart disease]in T2DM [type-2 Diabetes mellitus]patients
24663101 Depletion of the TLL1 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells
23726511 This study identified TLL1 as a new susceptibility gene for PTSD.
22883091 TLL-1 gene mutation with an insertion mutation of base A in exon 10 is common in Chinese patients with sporadic congenital heart diseases.
21911782 We identified a variant in a single PPAR pathway gene, TLL1, that is associated with the extent of coronary artery disease independently of clinical predictors, specifically in patients with type 2 diabetes mellitus.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20043912 Data demonstrate that TLL-1, which has intermediate activity, forms a calcium-ion dependent dimer with monomers stacked side-by-side.
19723501 These results indicate that the hypoxia responsive motif is directly involved in the activation of the mTll-1 transcription under hypoxic conditions.
18830233 Mutations in mammalian tolloid-like 1 gene detected in adult patients with Atrial septal defect
18824173 The crystal structures of the protease domains of human BMP-1 and the closely related Tolloid-like protease 1 (TLL-1), are reported.
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AA Sequence

MGLGTLSPRMLVWLVASGIVFYGELWVCAGLDYDYTFDGNEEDKTETIDYKDPCKAAVFWGDIALDDEDL      1 - 70
NIFQIDRTIDLTQNPFGNLGHTTGGLGDHAMSKKRGALYQLIDRIRRIGFGLEQNNTVKGKVPLQFSGQN     71 - 140
EKNRVPRAATSRTERIWPGGVIPYVIGGNFTGSQRAMFKQAMRHWEKHTCVTFIERSDEESYIVFTYRPC    141 - 210
GCCSYVGRRGNGPQAISIGKNCDKFGIVVHELGHVIGFWHEHTRPDRDNHVTIIRENIQPGQEYNFLKME    211 - 280
PGEVNSLGERYDFDSIMHYARNTFSRGMFLDTILPSRDDNGIRPAIGQRTRLSKGDIAQARKLYRCPACG    281 - 350
ETLQESNGNLSSPGFPNGYPSYTHCIWRVSVTPGEKIVLNFTTMDLYKSSLCWYDYIEVRDGYWRKSPLL    351 - 420
GRFCGDKLPEVLTSTDSRMWIEFRSSSNWVGKGFAAVYEAICGGEIRKNEGQIQSPNYPDDYRPMKECVW    421 - 490
KITVSESYHVGLTFQSFEIERHDNCAYDYLEVRDGTSENSPLIGRFCGYDKPEDIRSTSNTLWMKFVSDG    491 - 560
TVNKAGFAANFFKEEDECAKPDRGGCEQRCLNTLGSYQCACEPGYELGPDRRSCEAACGGLLTKLNGTIT    561 - 630
TPGWPKEYPPNKNCVWQVVAPTQYRISVKFEFFELEGNEVCKYDYVEIWSGLSSESKLHGKFCGAEVPEV    631 - 700
ITSQFNNMRIEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQHECVNTMGSYMCQCRNGFVLHDNKHDCK    701 - 770
EAECEQKIHSPSGLITSPNWPDKYPSRKECTWEISATPGHRIKLAFSEFEIEQHQECAYDHLEVFDGETE    771 - 840
KSPILGRLCGNKIPDPLVATGNKMFVRFVSDASVQRKGFQATHSTECGGRLKAESKPRDLYSHAQFGDNN    841 - 910
YPGQVDCEWLLVSERGSRLELSFQTFEVEEEADCGYDYVELFDGLDSTAVGLGRFCGSGPPEEIYSIGDS    911 - 980
VLIHFHTDDTINKKGFHIRYKSIRYPDTTHTKK                                         981 - 1013
//

Text Mined References (21)

PMID Year Title
25233961 2014 Association of TLL1 gene polymorphism (rs1503298, T > C) with coronary heart disease in PREDICT, UDACS and ED cohorts.
23726511 2013 Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
23412934 2013 A genome-wide association study of brain lesion distribution in multiple sclerosis.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22883091 2012 [Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases].
21911782 2011 Peroxisome proliferator-activated receptor pathway gene polymorphism associated with extent of coronary artery disease in patients with type 2 diabetes in the bypass angioplasty revascularization investigation 2 diabetes trial.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20043912 2010 Structural and functional evidence for a substrate exclusion mechanism in mammalian tolloid like-1 (TLL-1) proteinase.
19723501 2009 Activation of mammalian Tolloid-like 1 expression by hypoxia in human neuroblastoma SH-SY5Y cells.
18830233 2009 Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
More...