TLL1 (tolloid like 1)

2014-11-01 Affiliation

Identity

HGNC

TLL1

LOCATION

4q32.3

LOCUSID

7092

ALIAS

ASD6,TLL

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000038295	ENST00000061240	O43897
ENSG00000038295	ENST00000504560	D6RAK5
ENSG00000038295	ENST00000506144	D6RCE0
ENSG00000038295	ENST00000507499	E9PD25
ENSG00000038295	ENST00000509505	D6RBI6
ENSG00000038295	ENST00000513213	O43897

Expression (GTEx)

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

Pathway	Source	External ID
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Assembly of collagen fibrils and other multimeric structures	REACTOME	R-HSA-2022090
Anchoring fibril formation	REACTOME	R-HSA-2214320
Crosslinking of collagen fibrils	REACTOME	R-HSA-2243919
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228

References

Pubmed ID	Year	Title	Citations
23726511	2013	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	67
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
28163062	2017	Genome-Wide Association Study Identifies TLL1 Variant Associated With Development of Hepatocellular Carcinoma After Eradication of Hepatitis C Virus Infection.	24
18824173	2008	Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases.	20
21911782	2011	Peroxisome proliferator-activated receptor pathway gene polymorphism associated with extent of coronary artery disease in patients with type 2 diabetes in the bypass angioplasty revascularization investigation 2 diabetes trial.	14
16507574	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.	12
20043912	2010	Structural and functional evidence for a substrate exclusion mechanism in mammalian tolloid like-1 (TLL-1) proteinase.	11
18830233	2009	Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.	10
28744823	2018	Combination of PNPLA3 and TLL1 polymorphism can predict advanced fibrosis in Japanese patients with nonalcoholic fatty liver disease.	4
19723501	2009	Activation of mammalian Tolloid-like 1 expression by hypoxia in human neuroblastoma SH-SY5Y cells.	2

Citation

Dessen P

TLL1 (tolloid like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74723/tll1