TLL1

Protein-coding gene in the species Homo sapiens
TLL1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3EDI

Identifiers
AliasesTLL1, ASD6, TLL, tolloid like 1
External IDsOMIM: 606742; MGI: 106923; HomoloGene: 49202; GeneCards: TLL1; OMA:TLL1 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for TLL1
Genomic location for TLL1
Band4q32.3Start165,873,237 bp[1]
End166,104,457 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for TLL1
Genomic location for TLL1
Band8 B3.1|8 32.19 cMStart64,467,965 bp[2]
End64,659,305 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 8: 64.47 – 64.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000038295 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053626 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, Shows TB, Greenspan DS (Oct 1999). "Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32→q33 and 10q23→q24 and assignment of murine Tll2 to chromosome 19". Cytogenet Cell Genet. 86 (1): 64–65. doi:10.1159/000015412. PMID 10516436. S2CID 42081614.
  6. ^ a b "Entrez Gene: TLL1 tolloid-like 1".

Further reading

  • Takahara K, Brevard R, Hoffman GG, et al. (1997). "Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1". Genomics. 34 (2): 157–165. doi:10.1006/geno.1996.0260. PMID 8661043.
  • Scott IC, Blitz IL, Pappano WN, et al. (1999). "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis". Dev. Biol. 213 (2): 283–300. doi:10.1006/dbio.1999.9383. PMID 10479448.
  • Scott IC, Imamura Y, Pappano WN, et al. (2000). "Bone morphogenetic protein-1 processes probiglycan". J. Biol. Chem. 275 (39): 30504–30511. doi:10.1074/jbc.M004846200. PMID 10896944.
  • Uzel MI, Scott IC, Babakhanlou-Chase H, et al. (2001). "Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures". J. Biol. Chem. 276 (25): 22537–22543. doi:10.1074/jbc.M102352200. PMID 11313359.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ge G, Zhang Y, Steiglitz BM, Greenspan DS (2006). "Mammalian tolloid-like 1 binds procollagen C-proteinase enhancer protein 1 and differs from bone morphogenetic protein 1 in the functional roles of homologous protein domains". J. Biol. Chem. 281 (16): 10786–10798. doi:10.1074/jbc.M511111200. PMID 16507574.


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