ADAMTSL4 - ADAMTS like 4 Gene

Also Known as TSRC1; ECTOL2; ADAMTSL-4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54507

About ADAMTSL4

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,549,408-150,560,937 (from NCBI)

This gene has 8 transcripts (splice variants), 143 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in placenta (RPKM 57.7), lung (RPKM 14.8) and 11 other tissues.

Summary

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]

ADAMTSL4 Products (5)

mRNA	Protein	Name
NM_001288607.2	NP_001275536.1	ADAMTS-like protein 4 isoform 3 precursor
NM_001288608.2	NP_001275537.1	ADAMTS-like protein 4 isoform 4 precursor
NM_001378596.1	NP_001365525.1	ADAMTS-like protein 4 isoform 1 precursor
NM_019032.6	NP_061905.2	ADAMTS-like protein 4 isoform 1 precursor
NM_025008.5	NP_079284.2	ADAMTS-like protein 4 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	16364318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	16364318	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADAMTSL4 Protein Structure

TSP_1

ADAM_spacer1

TSP_1

PLAC

0
200
400
600
800
1000
1074 a.a.

Protein Preferred Names	Protein Names
ADAMTS-like protein 4	thrombospondin repeat-containing protein 1

ADAMTSL4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	ADAMTSL4	Q6UY14	Hoxa1	Mus musculus	P09022	Pull Down	23088713
Intra	ADAMTSL4	Q6UY14	CTSB	Homo sapiens	P07858	Imaging	16364318

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ectopia Lentis Et Pupillae	Ectopia Lentis With Ectopia Of Pupil ECTOLP
Ectopia Lentis 2, Isolated, Autosomal Recessive	ECTOL2 Ectopia Lentis, Isolated, Autosomal Recessive Autosomal Recessive Isolated Ectopia Lentis 2 Autosomal Recessive Isolated Ectopia Lentis Ectopia Lentis, Isolated Autosomal Recessive Ectopia Lentis, Isolated Autosomal Recessive, Type 2
Isolated Ectopia Lentis	Familial Ectopia Lentis Ectopia Lentis Ectopia Lentis Syndrome Lens Subluxation Iel Congenital Ectopia Lentis Subluxation Of Lens Ectopia Lentis, Isolated Ectopia Lentis Isolated
Craniosynostosis With Ectopia Lentis
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Bilateral Frontal Polymicrogyria
Astigmatism
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Weill-Marchesani Syndrome	Gemss Syndrome Spherophakia-Brachymorphia Syndrome Marchesani-Weill Syndrome Wms Congenital Mesodermal Dystrophy Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Mesodermal Dysmorphodystrophy Congenital Wm Syndrome Brachydactyly-Spherophakia Syndrome Brachymorphy With Spherophakia Syndrome Congenital Mesodermal Dysmorphodystrophy Marchesani Syndrome Weill-Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant
Ectopia Lentis 1, Isolated, Autosomal Dominant	ECTOL1 Ectopia Lentis, Familial Autosomal Dominant Isolated Ectopia Lentis 1
Aqueous Misdirection
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
Morgagni Cataract	Hypermature Cataract Morgagnian Cataract
Lens Subluxation	Subluxation Of Lens
Stiff Skin Syndrome	SSKS Stiff Skin
Pseudopapilledema
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Lens Disease	Lens Diseases
Winchester Syndrome	WNCHRS Winchester Disease Winchester-Grossman Syndrome
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Brachydactyly
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00313	ADAMTSL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21787	Thsd4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ADAMTSL4	VGNC	VGNC:59602
Bos taurus	ADAMTSL4	VGNC	VGNC:25632
Rattus norvegicus	ADAMTSL4	RGD	RGD:1561012
Macaca mulatta	ADAMTSL4	VGNC	VGNC:69480
Canis familiaris	ADAMTSL4	VGNC	VGNC:37608
Mus musculus	ADAMTSL4	MGD	MGI:2389008
Others	ADAMTSL4	NCBI