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Aliases for ADAMTSL1 Gene

Aliases for ADAMTSL1 Gene

  • ADAMTS Like 1 2 3 5
  • 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
  • ADAMTS-Like Protein 1 3
  • PUNCTIN 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 Babesiosis. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTSL3.

Gene Wiki entry for ADAMTSL1 Gene

Additional gene information for ADAMTSL1 Gene

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

Genomics for ADAMTSL1 Gene

GeneHancer (GH) Regulatory Elements for ADAMTSL1 Gene

Promoters and enhancers for ADAMTSL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J018472 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.2 +567.5 567544 3.4 ZNF777 SIN3A ZFHX2 POLR2A PATZ1 PRDM10 RCOR1 ATF7 FOS ZBTB20 ADAMTSL1 LOC105369293 MIR3152
GH09J017905 Enhancer 0.6 ENCODE 650.7 +0.5 540 2.6 CTCF SP3 SUZ12 ZNF398 ZBTB8A ZFHX2 GLIS2 GLIS1 PRDM10 ZBTB26 ADAMTSL1 LOC105375987
GH09J018705 Enhancer 0.6 ENCODE 12.2 +800.6 800580 3.1 STAT1 USF1 RXRA MAFG ZNF354B NR2F2 ZNF148 SP1 HNF4A NFE2 DENND4C ENSG00000273226 ADAMTSL1 SCARNA8 RAP1BP1 LOC102724102
GH09J018632 Enhancer 0.8 Ensembl ENCODE dbSUPER 5.8 +726.6 726647 1.6 JUND JUN ADAMTSL1 RN7SKP258 MIR3152
GH09J018488 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 3.1 +585.4 585391 7.7 ZNF335 JUND POLR2A JUN RCOR1 FOS PRDM1 CHD2 ADAMTSL1 LOC105369293 MIR3152
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTSL1 gene promoter:
  • IRF-7A
  • RORalpha1
  • FAC1
  • USF-1
  • HNF-4alpha1
  • COUP-TF1
  • COUP-TF
  • COUP
  • USF1
  • HNF-4alpha2

Genomic Locations for ADAMTSL1 Gene

Genomic Locations for ADAMTSL1 Gene
chr9:17,906,563-18,910,950
(GRCh38/hg38)
Size:
1,004,388 bases
Orientation:
Plus strand
chr9:18,473,892-18,910,948
(GRCh37/hg19)
Size:
437,057 bases
Orientation:
Plus strand

Genomic View for ADAMTSL1 Gene

Genes around ADAMTSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q8N6G6-ATL1_HUMAN
    Recommended name:
    ADAMTS-like protein 1
    Protein Accession:
    Q8N6G6
    Secondary Accessions:
    • A6PVN1
    • A8K7E1
    • Q496M6
    • Q496M8
    • Q5T708
    • Q5VZT8
    • Q8NAI9
    • Q96RW4
    • Q9BXY3

    Protein attributes for ADAMTSL1 Gene

    Size:
    1762 amino acids
    Molecular mass:
    193409 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

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 posLast=11441144, Thr1131, posLast=11231123, Thr451, posLast=391391, posLast=312312, posLast=251251, posLast=4848, Trp42, and posLast=3939
  • Modification sites at PhosphoSitePlus

Antibody Products

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

No data available for DME Specific Peptides for ADAMTSL1 Gene

Domains & Families for ADAMTSL1 Gene

Gene Families for ADAMTSL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ADAMTSL1 Gene

Suggested Antigen Peptide Sequences for ADAMTSL1 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ADAMTSL1 Gene

Phenotypes From GWAS Catalog for ADAMTSL1 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTSL1: view
genes like me logo Genes that share phenotypes with ADAMTSL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTSL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTSL1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
nucleus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ADAMTSL1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTSL1 Gene

Pathways & Interactions for ADAMTSL1 Gene

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

Gene Ontology (GO) - Biological Process for ADAMTSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0036066 protein O-linked fucosylation 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

(37) Drugs for ADAMTSL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(48) 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'-Sulfogalactosylceramide
  • Tetracosanoyl sulfatide
  • 3'-Sulphogalactosylceramide
  • 3-O-Sulphogalactosylceramide (D18:1/24:0)
  • Tetracosanoyl sulphatide
151122-71-3
genes like me logo Genes that share compounds with ADAMTSL1: view

Transcripts for ADAMTSL1 Gene

mRNA/cDNA for ADAMTSL1 Gene

Unigene Clusters for ADAMTSL1 Gene

ADAMTS-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL1

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: - -
SP3:

Relevant External Links for ADAMTSL1 Gene

GeneLoc Exon Structure for
ADAMTSL1
ECgene alternative splicing isoforms for
ADAMTSL1

Expression for ADAMTSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ADAMTSL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAMTSL1 Gene:

ADAMTSL1

SOURCE GeneReport for Unigene cluster for ADAMTSL1 Gene:

Hs.741483

mRNA Expression by UniProt/SwissProt for ADAMTSL1 Gene:

Q8N6G6-ATL1_HUMAN
Tissue specificity: Expressed primarily in adult skeletal muscle.

Evidence on tissue expression from TISSUES for ADAMTSL1 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with ADAMTSL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ADAMTSL1 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTSL1 34 33
  • 91.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTSL1 34 33
  • 90 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adamtsl1 16 34 33
  • 86.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTSL1 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamtsl1 33
  • 84.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTSL1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTSL1 34 33
  • 74.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTSL1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl1 33
  • 67.33 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01112436.1 34
  • 14 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31619 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea madd-4 34
  • 20 (a)
ManyToMany
Species where no ortholog for ADAMTSL1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for ADAMTSL1 (if available)
TreeFam:
Gene Tree for ADAMTSL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTSL1: view image

Paralogs for ADAMTSL1 Gene

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

  • ATL1_HUMAN
  • A2A343_HUMAN
  • A6NIB9_HUMAN
  • F8WEP3_HUMAN
  • H7BYE3_HUMAN
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 Variation AA Info Type
rs1000004208 -- 18,468,950(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000005319 -- 18,512,199(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000012207 -- 17,915,428(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000013664 -- 18,364,122(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000017892 -- 18,118,853(+) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3962n106 CNV deletion 24896259
dgv3963n106 CNV deletion 24896259
esv1006882 CNV deletion 20482838
esv1386680 CNV deletion 17803354
esv1945859 CNV deletion 18987734
esv2262298 CNV deletion 18987734
esv2430566 CNV deletion 19546169
esv2611468 CNV deletion 19546169
esv2678130 CNV deletion 23128226
esv2738253 CNV deletion 23290073
esv2738254 CNV deletion 23290073
esv2738255 CNV deletion 23290073
esv2738256 CNV deletion 23290073
esv3544620 CNV deletion 23714750
esv3544621 CNV deletion 23714750
esv3619879 CNV loss 21293372
esv3619880 CNV loss 21293372
esv3619882 CNV gain 21293372
esv3619883 CNV loss 21293372
esv3619884 CNV gain 21293372
esv3619885 CNV loss 21293372
esv4320 CNV loss 18987735
esv9523 CNV loss 19470904
esv995985 CNV deletion 20482838
esv998276 CNV deletion 20482838
nsv1024591 CNV loss 25217958
nsv1076140 CNV deletion 25765185
nsv1128466 CNV deletion 24896259
nsv1129302 CNV insertion 24896259
nsv1153933 CNV deletion 26484159
nsv1161844 CNV deletion 26073780
nsv415467 CNV deletion 16902084
nsv416839 CNV deletion 16902084
nsv509296 CNV insertion 20534489
nsv519362 CNV loss 19592680
nsv525659 CNV gain 19592680
nsv525887 CNV loss 19592680
nsv613725 CNV loss 21841781
nsv613726 CNV loss 21841781
nsv6495 CNV insertion 18451855
nsv6496 CNV deletion 18451855
nsv824871 CNV loss 20364138
nsv831523 CNV loss 17160897
nsv972297 CNV duplication 23825009

Variation tolerance for ADAMTSL1 Gene

Residual Variation Intolerance Score: 98.1% 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)

Additional Variant Information for ADAMTSL1 Gene

Human Gene Mutation Database (HGMD)
ADAMTSL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTSL1

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: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
quebec platelet disorder
  • qpd
babesiosis
  • babesiasis
thrombotic thrombocytopenic purpura
  • ttp
malaria
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTSL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 SS (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. (PMID: 19671700) Wang LW … Apte SS (The Journal of biological chemistry 2009) 3 4 22 58
  3. O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. (PMID: 17395588) Wang LW … Apte SS (The Journal of biological chemistry 2007) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for ADAMTSL1 Gene

Sources for ADAMTSL1 Gene

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