Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7092
Gene name	Tolloid like 1
Gene symbol	TLL1
Synonyms (NCBI Gene)	ASD6TLL
Chromosome	4
Chromosome location	4q32.3
Summary	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

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

170

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
MIRT636162	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT636161	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT636160	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT636159	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
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
MIRT636162	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT636161	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT636160	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT636159	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT1426599	hsa-miR-1258	CLIP-seq
MIRT1426600	hsa-miR-1271	CLIP-seq
MIRT1426601	hsa-miR-1305	CLIP-seq
MIRT1426602	hsa-miR-142-5p	CLIP-seq
MIRT1426603	hsa-miR-182	CLIP-seq
MIRT1426604	hsa-miR-221	CLIP-seq
MIRT1426605	hsa-miR-222	CLIP-seq
MIRT1426606	hsa-miR-3117-3p	CLIP-seq
MIRT1426607	hsa-miR-3149	CLIP-seq
MIRT1426608	hsa-miR-3163	CLIP-seq
MIRT1426609	hsa-miR-3169	CLIP-seq
MIRT1426610	hsa-miR-340	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426612	hsa-miR-375	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1426614	hsa-miR-4269	CLIP-seq
MIRT1426615	hsa-miR-4422	CLIP-seq
MIRT1426616	hsa-miR-4470	CLIP-seq
MIRT1426617	hsa-miR-4514	CLIP-seq
MIRT1426618	hsa-miR-4692	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426620	hsa-miR-4742-5p	CLIP-seq
MIRT1426621	hsa-miR-4759	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT1426623	hsa-miR-568	CLIP-seq
MIRT1426624	hsa-miR-889	CLIP-seq
MIRT1426625	hsa-miR-96	CLIP-seq
MIRT1557194	hsa-miR-15a	CLIP-seq
MIRT1557195	hsa-miR-15b	CLIP-seq
MIRT1557196	hsa-miR-16	CLIP-seq
MIRT1557197	hsa-miR-195	CLIP-seq
MIRT1557198	hsa-miR-424	CLIP-seq
MIRT1557199	hsa-miR-497	CLIP-seq
MIRT2127821	hsa-miR-105	CLIP-seq
MIRT1557194	hsa-miR-15a	CLIP-seq
MIRT1557195	hsa-miR-15b	CLIP-seq
MIRT1557196	hsa-miR-16	CLIP-seq
MIRT1557197	hsa-miR-195	CLIP-seq
MIRT2127822	hsa-miR-3671	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1557198	hsa-miR-424	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT1557199	hsa-miR-497	CLIP-seq
MIRT2127823	hsa-miR-607	CLIP-seq
MIRT2127824	hsa-miR-634	CLIP-seq
MIRT1426600	hsa-miR-1271	CLIP-seq
MIRT1426602	hsa-miR-142-5p	CLIP-seq
MIRT1426603	hsa-miR-182	CLIP-seq
MIRT2349516	hsa-miR-2467-3p	CLIP-seq
MIRT1426610	hsa-miR-340	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1426616	hsa-miR-4470	CLIP-seq
MIRT2349517	hsa-miR-4703-3p	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT2349518	hsa-miR-5096	CLIP-seq
MIRT1426625	hsa-miR-96	CLIP-seq
MIRT2461496	hsa-miR-411	CLIP-seq
MIRT2461497	hsa-miR-548n	CLIP-seq
MIRT2461498	hsa-miR-548t	CLIP-seq
MIRT2466232	hsa-miR-2682	CLIP-seq
MIRT2461496	hsa-miR-411	CLIP-seq
MIRT2466233	hsa-miR-449c	CLIP-seq
MIRT2461497	hsa-miR-548n	CLIP-seq
MIRT2461498	hsa-miR-548t	CLIP-seq
MIRT2466234	hsa-miR-940	CLIP-seq
MIRT2642984	hsa-miR-3920	CLIP-seq
MIRT2642985	hsa-miR-4662a-3p	CLIP-seq
MIRT2642986	hsa-miR-4762-3p	CLIP-seq
MIRT2642984	hsa-miR-3920	CLIP-seq
MIRT2642985	hsa-miR-4662a-3p	CLIP-seq
MIRT2642986	hsa-miR-4762-3p	CLIP-seq

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
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
606742	11843	ENSG00000038295

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

	Reactome
			Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation Crosslinking of collagen fibrils

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect 6	Pathogenic	rs137852951, rs137852953	RCV000004289 RCV000004291

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
TLL1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs757762634, rs116616112, rs2477086118, rs2477108854, rs780001007, rs777454988, rs41280515, rs72984287, rs766152735, rs115164532, rs764830976, rs368237746, rs201069443, rs116465330, rs150316679 View all (5 more)	RCV003404167 RCV003928955 RCV003402454 RCV003404218 RCV003410670 RCV003408799 RCV003916981 RCV003964391 RCV003909619 RCV003907274 RCV003931685 RCV003939358 RCV003949122 RCV003949192 RCV003979201 RCV003976770 RCV003966819 RCV003976444 RCV003920575 RCV003920576

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
COVID 19	Stimulate	34071309
Diabetes Mellitus Type 2	Associate	21911782
Ductus Arteriosus Patent	Associate	22302627
Heart Defects Congenital	Associate	22302627, 27418595
Heart Diseases	Associate	31570783
Heart Septal Defects Atrial	Associate	18830233, 27418595, 31570783
Heart Septal Defects Ventricular	Associate	22302627
Hepatitis C Chronic	Associate	30912093
Inflammation	Associate	34071309
Liver Cirrhosis	Associate	37981236
Neoplasm Metastasis	Associate	32638511
Neoplasms	Associate	32638511, 35961204
Non alcoholic Fatty Liver Disease	Associate	32349377
Ovarian Neoplasms	Associate	32186777

TLL1 (tolloid like 1)