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TLL1 - tolloid like 1 Gene

Also Known as TLL; ASD6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7092

About TLL1

Cytogenetic location: 4q32.3 Genomic coordinates (GRCh38): 4:165,873,237-166,104,457 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues, 35 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 2.3), gall bladder (RPKM 1.2) and 21 other tissues.

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]

TLL1 Products (2)

mRNA	Protein	Name
NM_001204760.2	NP_001191689.1	tolloid-like protein 1 isoform 2 precursor
NM_012464.5	NP_036596.3	tolloid-like protein 1 isoform 1 precursor

TLL1 Protein Structure

Astacin

CUB

FXa_inhibition

CUB

FXa_inhibition

CUB

0
200
400
600
800
1013 a.a.

Protein Preferred Names	Protein Names
tolloid-like protein 1

Related Diseases

Diseases	Alias
Atrial Septal Defect 6	ASD6 Atrial Heart Septal Defect 6 Septal Defect, Atrial, Type 6
Atrial Septal Defect Ostium Primum	Asd Ostium Primum Type Ostium Primum Asd Atrial Septal Defect, Ostium Primum Type Asd, Ostium Primum Type
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Acrorenal Syndrome
Atrial Septal Defect 5	ASD5 Atrial Heart Septal Defect 5 Septal Defect, Atrial, Type 5
Ciliary Dyskinesia, Primary, 27	Primary Ciliary Dyskinesia 27 CILD27 Ciliary Dyskinesia, Primary, 27, Without Situs Inversus Primary Ciliary Dyskinesia 27 Without Situs Inversus Primary Ciliary Dyskinesia 27 With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, 27
Anisakiasis	Infection By Anisakis Larva Anisakis Infection Pseudoterranova Infection Anisakiasis Due To Anisakis Simplex Anisakiasis Due To Pseudoterranova Decipiens Anisakis Infestation Infection Due To Anisakis Larvae
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14572	TLL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TLL1	VGNC	VGNC:78369
Bos taurus	TLL1	VGNC	VGNC:35895
Mus musculus	TLL1	MGD	MGI:106923
Felis catus	TLL1	VGNC	VGNC:66213
Rattus norvegicus	TLL1	RGD	RGD:1306120
Canis familiaris	TLL1	VGNC	VGNC:47400
Others	TLL1	NCBI