ADAMTSL1 - ADAMTS like 1 Gene

Homo sapiens

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

Gene ID: 92949 | Gene type: protein coding

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%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00310	ADAMTSL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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