TLL1 (tolloid like 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7092
Gene name Gene Name - the full gene name approved by the HGNC.
Tolloid like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TLL1
Synonyms (NCBI Gene) Gene synonyms aliases
ASD6, TLL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.3
Summary Summary of gene provided in NCBI Entrez 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 pl
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs137852951 A>C,G Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs137852952 T>C Pathogenic Missense variant, coding sequence variant
rs137852953 A>G Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1579663872 A>G Pathogenic Genic downstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(170)
miRTarBase ID miRNA Experiments Reference
MIRT017300 hsa-miR-335-5p Microarray 18185580
MIRT616133 hsa-miR-3924 HITS-CLIP 23824327
MIRT616132 hsa-miR-7159-3p HITS-CLIP 23824327
MIRT616131 hsa-miR-4482-3p HITS-CLIP 23824327
MIRT636163 hsa-miR-4773 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 8661043
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS
GO:0004252 Function Serine-type endopeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606742 11843 ENSG00000038295
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43897
Protein name Tolloid-like protein 1 (EC 3.4.24.-)
Protein 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 skeletogene
PDB 3EDI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01400 Astacin 155 → 348 Astacin (Peptidase family M12A) Domain
PF00431 CUB 349 → 458 CUB domain Domain
PF00431 CUB 462 → 571 CUB domain Domain
PF14670 FXa_inhibition 578 → 614 Domain
PF00431 CUB 618 → 727 CUB domain Domain
PF07645 EGF_CA 730 → 774 Calcium-binding EGF domain Domain
PF00431 CUB 774 → 883 CUB domain Domain
PF00431 CUB 887 → 1000 CUB domain Domain
Sequence 
MGLGTLSPRMLVWLVASGIVFYGELWVCAGLDYDYTFDGNEEDKTETIDYKDPCKAAVFW
GDIALDDEDLNIFQIDRTIDLTQNPFGNLGHTTGGLGDHAMSKKRGALYQLIDRIRRIGF
GLEQNNTVKGKVPLQFSGQNEKNRVPRAATSRTERIWPGGVIPYVIGGNFTGSQRAMFKQ
AMRHWEKHTCVTFIERSDEESYIVFTYRPCGCCSYVGRRGNGPQAISIGKNCDKFGIVVH
ELGHVIGFWHEHTRPDRDNHVTIIRENIQPGQEYNFLKMEPGEVNSLGERYDFDSIMHYA
RNTFSRGMFLDTILPSRDDNGIRPAIGQRTRLSKGDIAQARKLYRCPACGETLQESNGNL
SSPGFPNGYPSYTHCIWRVSVTPGEKIVLNFTTMDLYKSSLCWYDYIEVRDGYWRKSPLL
GRFCGDKLPEVLTSTDSRMWIEFRSSSNWVGKGFAAVYEAICGGEIRKNEGQIQSPNYPD
DYRPMKECVWKITVSESYHVGLTFQSFEIERHDNCAYDYLEVRDGTSENSPLIGRFCGYD
KPEDIRSTSNTLWMKFVSDGTVNKAGFAANFFKEEDECAKPDRGGCEQRCLNTLGSYQCA
CEPGYELGPDRRSCEAACGGLLTKLNGTITTPGWPKEYPPNKNCVWQVVAPTQYRISVKF
EFFELEGNEVCKYDYVEIWSGLSSESKLHGKFCGAEVPEVITSQFNNMRIEFKSDNTVSK
KGFKAHFFSDKDECSKDNGGCQHECVNTMGSYMCQCRNGFVLHDNKHDCKEAECEQKIHS
PSGLITSPNWPDKYPSRKECTWEISATPGHRIKLAFSEFEIEQHQECAYDHLEVFDGETE
KSPILGRLCGNKIPDPLVATGNKMFVRFVSDASVQRKGFQATHSTECGGRLKAESKPRDL
YSHAQFGDNNYPGQVDCEWLLVSERGSRLELSFQTFEVEEEADCGYDYVELFDGLDSTAV
GLGRFCGSGPPEEIYSIGDSVLIHFHTDDTINKKGFHIRYKSIRYPDTTHTKK
Sequence length 1013
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Degradation of the extracellular matrix
Collagen biosynthesis and modifying enzymes
Anchoring fibril formation
Crosslinking of collagen fibrils
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrial Septal Defect atrial septal defect 6 rs137852951, rs137852953 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Metabolic Syndrome Serum bilirubin levels in metabolic syndrome N/A N/A GWAS
Mitral Valve Prolapse mitral valve prolapse N/A N/A GenCC
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aneurysm Of Interventricular Septum Associate 18830233
Atrial Septal Defect Secundum Type Associate 31570783
Carcinogenesis Associate 33347699
Carcinoma Hepatocellular Associate 30912093, 31177595, 33347699, 37981236
Carcinoma Ovarian Epithelial Associate 32638511
Chemical and Drug Induced Liver Injury Associate 33347699
Chromosome 4q Syndrome Associate 22302627
Congenital Hyperinsulinism Associate 23869231
Coronary Artery Disease Associate 21911782
COVID 19 Associate 34071309