TLL1 (tolloid like 1)

2014-11-01  

Identity

HGNC
TLL1
LOCATION
4q32.3
LOCUSID
7092
ALIAS
ASD6,TLL

Other Information

Locus ID:

NCBI: 7092
MIM: 606742
HGNC: 11843
Ensembl: ENSG00000038295

Variants:

dbSNP: 7092
ClinVar: 7092
TCGA: ENSG00000038295
COSMIC: TLL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000038295ENST00000061240O43897
ENSG00000038295ENST00000504560D6RAK5
ENSG00000038295ENST00000506144D6RCE0
ENSG00000038295ENST00000507499E9PD25
ENSG00000038295ENST00000509505D6RBI6
ENSG00000038295ENST00000513213O43897

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Anchoring fibril formationREACTOMER-HSA-2214320
Crosslinking of collagen fibrilsREACTOMER-HSA-2243919
Degradation of the extracellular matrixREACTOMER-HSA-1474228

References

Pubmed IDYearTitleCitations
379812362024Assessment of TLL1 variant and risk of hepatocellular carcinoma in Latin Americans and Europeans.2
379812362024Assessment of TLL1 variant and risk of hepatocellular carcinoma in Latin Americans and Europeans.2
360873992022Klebsiella pneumoniae activates the TGF-β signaling pathway to adhere to and invade intestinal epithelial cells via enhancing TLL1 expression.2
360873992022Klebsiella pneumoniae activates the TGF-β signaling pathway to adhere to and invade intestinal epithelial cells via enhancing TLL1 expression.2
331694062021Proteinase bone morphogenetic protein 1, but not tolloid-like 1, plays a dominant role in maintaining periodontal homeostasis.1
333476992021Chitinase 3-like-1, Tolloid-like protein 1, and intergenic gene polymorphisms are predictors for hepatocellular carcinoma development after hepatitis C virus eradication by direct-acting antivirals.4
338768242021Characterization of tolloid-mediated cleavage of the GDF8 procomplex.5
340713092021Association between Interferon-Lambda-3 rs12979860, TLL1 rs17047200 and DDR1 rs4618569 Variant Polymorphisms with the Course and Outcome of SARS-CoV-2 Patients.16
331694062021Proteinase bone morphogenetic protein 1, but not tolloid-like 1, plays a dominant role in maintaining periodontal homeostasis.1
333476992021Chitinase 3-like-1, Tolloid-like protein 1, and intergenic gene polymorphisms are predictors for hepatocellular carcinoma development after hepatitis C virus eradication by direct-acting antivirals.4
338768242021Characterization of tolloid-mediated cleavage of the GDF8 procomplex.5
340713092021Association between Interferon-Lambda-3 rs12979860, TLL1 rs17047200 and DDR1 rs4618569 Variant Polymorphisms with the Course and Outcome of SARS-CoV-2 Patients.16
333067092020Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease.1
333067092020Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease.1
303823632019TLL1 variant associated with development of hepatocellular carcinoma after eradication of hepatitis C virus by interferon-free therapy.11

Citation

Dessen P

TLL1 (tolloid like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74723