TLL1

Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.^[5][6]

PDBOrtholog search: PDBe RCSB

AliasesTLL1, ASD6, TLL, tolloid like 1

External IDsOMIM: 606742; MGI: 106923; HomoloGene: 49202; GeneCards: TLL1; OMA:TLL1 - orthologs

Chr.Chromosome 4 (human)^[1]

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TLL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3EDI
Identifiers
Aliases	TLL1, ASD6, TLL, tolloid like 1
External IDs	OMIM: 606742; MGI: 106923; HomoloGene: 49202; GeneCards: TLL1; OMA:TLL1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q32.3 Start 165,873,237 bp[1] End 166,104,457 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.1|8 32.19 cM Start 64,467,965 bp[2] End 64,659,305 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gonad testicle cerebellar cortex cerebellar hemisphere epithelium of colon right hemisphere of cerebellum Achilles tendon gallbladder smooth muscle tissue Top expressed in muscular part of interventricular septum cardiac muscle tissue of interventricular septum aorticopulmonary septum vein endocardium of atrium interatrial septum septum primum endocardium of right atrium zygote secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding zinc ion binding peptidase activity hydrolase activity metallopeptidase activity metal ion binding metalloendopeptidase activity serine-type endopeptidase activity Cellular component extracellular region Biological process multicellular organism development skeletal system development cell differentiation extracellular matrix disassembly proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7092 21892 Ensembl ENSG00000038295 ENSMUSG00000053626 UniProt O43897 Q62381 RefSeq (mRNA) NM_001204760 NM_012464 NM_009390 RefSeq (protein) NP_001191689 NP_036596 NP_033416 Location (UCSC) Chr 4: 165.87 – 166.1 Mb Chr 8: 64.47 – 64.66 Mb PubMed search [3] [4]
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This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites.^[6]

In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.^[7] However, functional studies have also linked its gain-of-function with mitral valve prolapse.^[8]