ADAMTSL1 - ADAMTS like 1 Gene

Also Known as C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92949

About ADAMTSL1

Cytogenetic location: 9p22.2-p22.1 Genomic coordinates (GRCh38): 9:17,906,633-18,910,950 (from NCBI)

This gene has 15 transcripts (splice variants), 195 orthologues, 25 paralogues and is associated with 2 phenotypes. Broad expression in endometrium (RPKM 1.9), prostate (RPKM 1.7) and 23 other tissues.

Summary

This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

ADAMTSL1 Products (2)

mRNA	Protein	Name
NM_001040272.6	NP_001035362.3	ADAMTS-like protein 1 isoform 4 precursor
NM_052866.5	NP_443098.3	ADAMTS-like protein 1 isoform 2 precursor

ADAMTSL1 Protein Structure

TSP_1

Ig_2

I-set

TSP_1

PLAC

0
300
600
900
1200
1500
1762 a.a.

Protein Preferred Names	Protein Names
ADAMTS-like protein 1	ADAM-TS related protein 1

Recombinant ADAMTSL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76135	ADAMTSL1/Punctin Protein, Human (sf9, His)	Q8N6G6-2 (E29-H439)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Quebec Platelet Disorder	Factor V Quebec QPD Bdplt5 Bleeding Disorder, Platelet-Type, 5 Platelet-Type Bleeding Disorder 5 Bleeding Disorder Platelet-Type 5 Platelet Disorder, Quebec
Thrombotic Thrombocytopenic Purpura	Purpura, Thrombotic Thrombocytopenic Ttp Thrombotic Thrombocytopenic Purpura, Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Moschcowitz Disease Moschcowitz'S Syndrome Moschowitz Syndrome Chronic Relapsing Thrombotic Thrombocytopenic Purpura Familial Thrombotic Thrombocytopenia Purpura Moschkowitz Disease Purpura Thrombotic Thrombocytopenic Familial Thrombotic Thrombocytopenic Purpura Microangiopathic Hemolytic Anemia Congenital Thrombotic Thrombocytopenic Purpura Autoimmune Thrombotic Thrombocytopenic Purpura Ttp - [Thrombotic Thrombocytopenic Purpura] Moschcowitz Syndrome
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Babesiosis	Babesiasis Infection By Babesia Piroplasmosis Human Babesiosis Babesia Parasite Infection Piroplasma Infection
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
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
Sickle Cell Disease	Hbs Disease Hemoglobin S Disease Scd Sickle Cell Disorders Sickling Disorder Due To Hemoglobin S Anemia, Sickle Cell Hb-Ss Disease Without Crisis Hbss Without Crisis Sickle-Cell Anaemia Without Crisis Scd - [Sickle Cell Disease] Sca - [Sickle Cell Anaemia] Sickle Cell Disease Nos Sickle Cell Disorder Sickle Cell Syndrome Sickle-Cell Anaemia Nos Sickle-Cell Disorder Nos Haemoglobin S Disease Haemoglobin Ss Disease Hb S Disease Hb Ss Disease Herrick Anaemia Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S Sickle-Cell Haemoglobin Disease Sickling Disorder Due To Haemoglobin S Hb-Ss Disease With Crisis Sickle Cell Crisis Sickle-Cell Disorder With Crisis Sickle-Cell Anaemia With Crisis Hbss With Crisis Hb S Disease With Mention Of Crisis Haemoglobin Ss Disease With Crisis Hb-Ss Disease With Vaso-Occlusive Pain Vaso-Occlusive Crisis
Radial Nerve Lesion	Lesion Of Radial Nerve Radial Nerve Lesions Radial Neuropathy Radial Nerve Mononeuritis
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
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
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Dermatosparaxis EDSDERMS Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive Eds Viic Eds7c Ehlers-Danlos Syndrome Dermatosparaxis Type Dermatosparaxis Ehlers-Danlos Syndrome Dermatosparaxis Eds Ehlers-Danlos Syndrome Type 7c Deds Human Dermatosparaxis Eds Viic Ehlers-Danlos Syndrome 7c Ehlers-Danlos Syndrome, Type Viic
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Breast Disease	Breast Diseases
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
Radial Neuropathy
Winchester Syndrome	WNCHRS Winchester Disease Winchester-Grossman Syndrome
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
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
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00310	ADAMTSL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18886	Adamtsl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25377	Adamtsl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ADAMTSL1	VGNC	VGNC:58359
Canis familiaris	ADAMTSL1	VGNC	VGNC:37606
Mus musculus	ADAMTSL1	MGD	MGI:1924989
Rattus norvegicus	ADAMTSL1	RGD	RGD:1306439
Felis catus	ADAMTSL1	VGNC	VGNC:59599
Macaca mulatta	ADAMTSL1	VGNC	VGNC:103236
Others	ADAMTSL1	NCBI