TLL1 - tolloid like 1 Gene

Homo sapiens

Also known as TLL; ASD6

Gene ID: 7092 | Gene type: protein coding

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

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