• Gene id: 7092

Gene Summary

• Gene Symbol: TLL1   Gene   UCSC   Ensembl
• Aliases: ASD6, TLL
• Gene name: tolloid like 1
• Alternate names: tolloid-like protein 1,
• Gene location: 4q32.3 (165873123: 166105177)     Exons: 25     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 606742

Protein Summary

• Protein general information: O43897  
  • Name: Tolloid like protein 1 (EC 3.4.24. )
  • Length: 1013  
  • Mass: 114709
• Sequence:

  MGLGTLSPRMLVWLVASGIVFYGELWVCAGLDYDYTFDGNEEDKTETIDYKDPCKAAVFWGDIALDDEDLNIFQI
  DRTIDLTQNPFGNLGHTTGGLGDHAMSKKRGALYQLIDRIRRIGFGLEQNNTVKGKVPLQFSGQNEKNRVPRAAT
  SRTERIWPGGVIPYVIGGNFTGSQRAMFKQAMRHWEKHTCVTFIERSDEESYIVFTYRPCGCCSYVGRRGNGPQA
  ISIGKNCDKFGIVVHELGHVIGFWHEHTRPDRDNHVTIIRENIQPGQEYNFLKMEPGEVNSLGERYDFDSIMHYA
  RNTFSRGMFLDTILPSRDDNGIRPAIGQRTRLSKGDIAQARKLYRCPACGETLQESNGNLSSPGFPNGYPSYTHC
  IWRVSVTPGEKIVLNFTTMDLYKSSLCWYDYIEVRDGYWRKSPLLGRFCGDKLPEVLTSTDSRMWIEFRSSSNWV
  GKGFAAVYEAICGGEIRKNEGQIQSPNYPDDYRPMKECVWKITVSESYHVGLTFQSFEIERHDNCAYDYLEVRDG
  TSENSPLIGRFCGYDKPEDIRSTSNTLWMKFVSDGTVNKAGFAANFFKEEDECAKPDRGGCEQRCLNTLGSYQCA
  CEPGYELGPDRRSCEAACGGLLTKLNGTITTPGWPKEYPPNKNCVWQVVAPTQYRISVKFEFFELEGNEVCKYDY
  VEIWSGLSSESKLHGKFCGAEVPEVITSQFNNMRIEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQHECVNTMG
  SYMCQCRNGFVLHDNKHDCKEAECEQKIHSPSGLITSPNWPDKYPSRKECTWEISATPGHRIKLAFSEFEIEQHQ
  ECAYDHLEVFDGETEKSPILGRLCGNKIPDPLVATGNKMFVRFVSDASVQRKGFQATHSTECGGRLKAESKPRDL
  YSHAQFGDNNYPGQVDCEWLLVSERGSRLELSFQTFEVEEEADCGYDYVELFDGLDSTAVGLGRFCGSGPPEEIY
  SIGDSVLIHFHTDDTINKKGFHIRYKSIRYPDTTHTKK

• Structural information:
  • Protein Domains: (148..34-)
    (/note="Peptidase-M12A)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01211-)
    (349..46-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (462..57-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR015446  IPR000859  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR024079  IPR001506  IPR006026  IPR035914  IPR034036  
  • Prosite: PS51864 PS01180 PS01186 PS50026 PS01187 PS00142
  • CDD: cd00041 cd04281
  • PDB: 3EDI
  • PDBsum: 3EDI
  • STRING: ENSP00000061240
• Other Databases: GeneCards:  TLL1  Malacards:  TLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Atrial septal defect	KEGG:H00546
Atrial septal defect	KEGG:H00546
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)