2. Gene
  3. ADAMTSL4 - ADAMTS like 4 Gene

ADAMTSL4 - ADAMTS like 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TSRC1; ECTOL2; ADAMTSL-4

Gene ID: 54507 | Gene type: protein coding

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 Reference 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 Reference 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

TSP_1: Thrombospondin type 1 domain (48 - 74)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (487 - 599)

TSP_1

TSP_1: Thrombospondin type 1 domain (730 - 783)

TSP_1

TSP_1: Thrombospondin type 1 domain (789 - 841)

TSP_1

TSP_1: Thrombospondin type 1 domain (916 - 970)

TSP_1

TSP_1: Thrombospondin type 1 domain (977 - 1025)

PLAC

PLAC: PLAC (protease and lacunin) domain (1032 - 1063)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00313 ADAMTSL4 Human Pre-designed siRNA Set A Pre-designed Sets / 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