Homo sapiens Gene: TLL1
Summary
InnateDB Gene IDBG-43675.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TLL1
Gene Name tolloid-like 1
Synonyms ASD6; TLL;
Species Homo sapiens
Ensembl Gene ENSG00000038295
Encoded Proteins
tolloid-like 1
tolloid-like 1
tolloid-like 1
tolloid-like 1
tolloid-like 1
tolloid-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:165873258-166103895
Strand Forward strand
Band q32.3
Transcripts
ENST00000061240 ENSP00000061240
ENST00000509505 ENSP00000422692
ENST00000507499 ENSP00000426082
ENST00000504560 ENSP00000421732
ENST00000513213 ENSP00000422937
ENST00000506144 ENSP00000423748
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0001501 skeletal system development
GO:0006508 proteolysis
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
Cellular Component
GO:0005576 extracellular region
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Crosslinking of collagen fibrils pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen formation pathway
Anchoring fibril formation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL D6RCE0
UniProt Splice Variant
Entrez Gene 7092
UniGene Hs.106513
RefSeq NM_001204760 NM_012464
HUGO HGNC:11843
OMIM 606742
CCDS CCDS3811 CCDS56342
HPRD 07074
IMGT
EMBL AC093874 AC097502 AC097507
GenPept
RNA Seq Atlas 7092