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Aliases for ADAMTSL1 Gene

Aliases for ADAMTSL1 Gene

  • ADAMTS-Like 1 2 3
  • Punctin-1 3 4
  • ADAMTSL-1 3 4
  • ADAMTSR1 3 4
  • C9orf94 3 4
  • Chromosome 9 Open Reading Frame 94 2
  • ADAM-TS Related Protein 1 3
  • Punctin 2

External Ids for ADAMTSL1 Gene

Previous HGNC Symbols for ADAMTSL1 Gene

  • C9orf94

Previous GeneCards Identifiers for ADAMTSL1 Gene

  • GC09P018952
  • GC09P018811
  • GC09P018464

Summaries for ADAMTSL1 Gene

Entrez Gene Summary for ADAMTSL1 Gene

  • 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]

GeneCards Summary for ADAMTSL1 Gene

ADAMTSL1 (ADAMTS-Like 1) is a Protein Coding gene. Diseases associated with ADAMTSL1 include quebec platelet disorder and thrombotic thrombocytopenic purpura, acquired. Among its related pathways are Transport to the Golgi and subsequent modification and Notch Signaling Pathway (sino). GO annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTSL5.

Gene Wiki entry for ADAMTSL1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL1 Gene

Genomics for ADAMTSL1 Gene

Regulatory Elements for ADAMTSL1 Gene

Genomic Location for ADAMTSL1 Gene

17,906,603 bp from pter
18,910,950 bp from pter
1,004,348 bases
Plus strand

Genomic View for ADAMTSL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADAMTSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL1 Gene

Proteins for ADAMTSL1 Gene

  • Protein details for ADAMTSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ADAMTS-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A6PVN1
    • A8K7E1
    • Q496M6
    • Q496M8
    • Q5T708
    • Q5VZT8
    • Q8NAI9
    • Q96RW4
    • Q9BXY3

    Protein attributes for ADAMTSL1 Gene

    1762 amino acids
    Molecular mass:
    193409 Da
    Quaternary structure:
    • Monomer.
    • Sequence=AAI00789.1; Type=Frameshift; Positions=1312; Evidence={ECO:0000305}; Sequence=AAI00791.1; Type=Frameshift; Positions=1312; Evidence={ECO:0000305}; Sequence=AAK34948.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADAMTSL1 Gene

neXtProt entry for ADAMTSL1 Gene

Proteomics data for ADAMTSL1 Gene at MOPED

Post-translational modifications for ADAMTSL1 Gene

  • C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion.
  • Disulfide bonds are present
  • Glycosylation at Trp 39, Trp 42, Thr 48, Asn 251, Thr 312, Ser 391, Thr 451, Ser 1123, Thr 1131, and Ser 1144
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ADAMTSL1 (ADAMTSL-1/Punctin)

No data available for DME Specific Peptides for ADAMTSL1 Gene

Domains & Families for ADAMTSL1 Gene

Gene Families for ADAMTSL1 Gene

Protein Domains for ADAMTSL1 Gene

Suggested Antigen Peptide Sequences for ADAMTSL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 4 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 4 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 PLAC domain.
  • Contains 9 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTSL1: view

Function for ADAMTSL1 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity --
GO:0005515 protein binding --
GO:0008233 peptidase activity --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTSL1: view

Phenotypes for ADAMTSL1 Gene

genes like me logo Genes that share phenotypes with ADAMTSL1: view

Animal Model Products

CRISPR Products

miRNA for ADAMTSL1 Gene

miRTarBase miRNAs that target ADAMTSL1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADAMTSL1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTSL1 Gene

Localization for ADAMTSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for ADAMTSL1 Gene COMPARTMENTS Subcellular localization image for ADAMTSL1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ADAMTSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with ADAMTSL1: view

Pathways & Interactions for ADAMTSL1 Gene

genes like me logo Genes that share pathways with ADAMTSL1: view

Pathways by source for ADAMTSL1 Gene

Interacting Proteins for ADAMTSL1 Gene

Gene Ontology (GO) - Biological Process for ADAMTSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0006508 proteolysis IEA --
GO:0036066 protein O-linked fucosylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ADAMTSL1: view

No data available for SIGNOR curated interactions for ADAMTSL1 Gene

Drugs & Compounds for ADAMTSL1 Gene

(30) Drugs for ADAMTSL1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 971
Dexamethasone Approved, Investigational Pharma Agonist 1806
Epinephrine Approved Pharma 768
Heparin Approved, Investigational Pharma Antagonist 672,226
Hyaluronan Approved Pharma 328

(55) Additional Compounds for ADAMTSL1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
12-O-Tetradecanoylphorbol 13-acetate
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ADAMTSL1: view

Transcripts for ADAMTSL1 Gene

Unigene Clusters for ADAMTSL1 Gene

ADAMTS-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADAMTSL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: - -

Relevant External Links for ADAMTSL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTSL1 Gene

mRNA expression in normal human tissues for ADAMTSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTSL1 Gene

This gene is overexpressed in Esophagus - Muscularis (x5.2) and Artery - Aorta (x4.3).

Protein differential expression in normal tissues from HIPED for ADAMTSL1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (37.8), Testis (9.7), and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTSL1 Gene

SOURCE GeneReport for Unigene cluster for ADAMTSL1 Gene Hs.741483

mRNA Expression by UniProt/SwissProt for ADAMTSL1 Gene

Tissue specificity: Expressed primarily in adult skeletal muscle.
genes like me logo Genes that share expression patterns with ADAMTSL1: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein tissue co-expression partners for ADAMTSL1 Gene

Orthologs for ADAMTSL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTSL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ADAMTSL1 35
  • 90 (n)
  • 91.72 (a)
  • 92 (a)
(Canis familiaris)
Mammalia ADAMTSL1 35
  • 91.4 (n)
  • 93.97 (a)
  • 94 (a)
(Mus musculus)
Mammalia Adamtsl1 35
  • 86.68 (n)
  • 91.86 (a)
Adamtsl1 16
Adamtsl1 36
  • 91 (a)
(Pan troglodytes)
Mammalia ADAMTSL1 35
  • 99.6 (n)
  • 99.55 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Adamtsl1 35
  • 84.96 (n)
  • 89.13 (a)
(Monodelphis domestica)
Mammalia ADAMTSL1 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia ADAMTSL1 36
  • 83 (a)
(Gallus gallus)
Aves ADAMTSL1 35
  • 74.64 (n)
  • 78.97 (a)
  • 76 (a)
(Anolis carolinensis)
Reptilia ADAMTSL1 36
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl1 35
  • 67.33 (n)
  • 70.79 (a)
(Danio rerio)
Actinopterygii CABZ01112436.1 36
  • 14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31619 36
  • 28 (a)
(Caenorhabditis elegans)
Secernentea madd-4 36
  • 20 (a)
Species with no ortholog for ADAMTSL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAMTSL1 Gene

Gene Tree for ADAMTSL1 (if available)
Gene Tree for ADAMTSL1 (if available)

Paralogs for ADAMTSL1 Gene

(9) SIMAP similar genes for ADAMTSL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADAMTSL1: view

Variants for ADAMTSL1 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs473309 -- 18,109,833(-) GACTA(C/T)AGGTT intron-variant
rs473817 -- 18,725,822(-) CTTAT(A/G)TGTAT intron-variant
rs475662 -- 18,749,147(+) TTCCA(C/T)GTAAG intron-variant
rs476104 -- 18,730,828(-) AGTTA(C/T)AGAGA intron-variant
rs476196 -- 18,730,791(-) TGCAG(A/C)CCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL1 Gene

Variant ID Type Subtype PubMed ID
nsv525659 CNV Gain 19592680
nsv892688 CNV Gain 21882294
nsv892689 CNV Loss 21882294
nsv892690 CNV Gain 21882294
esv1006882 CNV Deletion 20482838
esv2738253 CNV Deletion 23290073
esv995985 CNV Deletion 20482838
nsv892691 CNV Gain 21882294
nsv892692 CNV Gain 21882294
nsv6495 CNV Insertion 18451855
nsv509296 CNV Insertion 20534489
nsv892693 CNV Loss 21882294
esv2430566 CNV Deletion 19546169
nsv416839 CNV Loss 16902084
nsv6496 CNV Loss 18451855
nsv831523 CNV Loss 17160897
nsv519362 CNV Loss 19592680
nsv892694 CNV Gain 21882294
nsv824871 CNV Loss 20364138
nsv892695 CNV Gain 21882294
esv2738254 CNV Deletion 23290073
nsv892696 CNV Loss 21882294
esv2678130 CNV Deletion 23128226
nsv892697 CNV Gain 21882294
esv2611468 CNV Deletion 19546169
esv1945859 CNV Deletion 18987734
esv4320 CNV Deletion 18987735
nsv415467 CNV Loss 16902084
esv998276 CNV Deletion 20482838
esv2738255 CNV Deletion 23290073
esv1386680 CNV Deletion 17803354
esv9523 CNV Loss 19470904
esv2738256 CNV Deletion 23290073
nsv525887 CNV Loss 19592680
esv2262298 CNV Deletion 18987734
nsv892698 CNV Gain 21882294

Variation tolerance for ADAMTSL1 Gene

Residual Variation Intolerance Score: 98.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.57; 91.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTSL1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL1 Gene

Disorders for ADAMTSL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ADAMTSL1 Gene - From: NovoSeek and GeneCards

Disorder Aliases PubMed IDs
quebec platelet disorder
  • factor v quebec
thrombotic thrombocytopenic purpura, acquired
  • idiopathic thrombotic thrombocytopenic purpura
multiple epiphyseal dysplasia
  • epiphyseal dysplasia, multiple, 2
  • malaria, severe
- elite association

Relevant External Links for ADAMTSL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ADAMTSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTSL1 Gene

Publications for ADAMTSL1 Gene

  1. Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix. (PMID: 11805097) Hirohata S. … Apte S.S. (J. Biol. Chem. 2002) 2 23 67
  2. Treatment response to bortezomib in multiple myeloma correlates with plasma hepatocyte growth factor concentration and bone marrow thrombospondin concentration. (PMID: 20015241) Ludek P. … Roman H. (Eur. J. Haematol. 2010) 23 67
  3. Treatment with a growth factor-protein mixture inhibits formation of mineralized nodules in osteogenic cell cultures grown on titanium. (PMID: 19029403) de Oliva M.A. … de Oliveira P.T. (J. Histochem. Cytochem. 2009) 23 67
  4. Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. (PMID: 19671700) Wang L.W. … Apte S.S. (J. Biol. Chem. 2009) 23 67
  5. Thrombospondin 2 inhibits metastasis of human malignant melanoma through microenvironment-modification in NOD/SCID/gammaCnull (NOG) mice. (PMID: 19082472) Chijiwa T. … Nakamura M. (Int. J. Oncol. 2009) 23 67

Products for ADAMTSL1 Gene

Sources for ADAMTSL1 Gene

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