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Aliases for ADAMTS10 Gene

Aliases for ADAMTS10 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 10 2 3
  • ADAM-TS 10 3 4
  • ADAM-TS10 3 4
  • ADAMTS-10 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10 3
  • Zinc Metalloendopeptidase 3
  • EC 3.4.24.82 58
  • EC 3.4.24.- 4
  • WMS1 3
  • WMS 3

External Ids for ADAMTS10 Gene

Previous GeneCards Identifiers for ADAMTS10 Gene

  • GC19M008673
  • GC19M008859
  • GC19M008540
  • GC19M008551
  • GC19M008300

Summaries for ADAMTS10 Gene

Entrez Gene Summary for ADAMTS10 Gene

  • This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAMTS10 Gene

ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10) is a Protein Coding gene. Diseases associated with ADAMTS10 include Weill-Marchesani Syndrome 1, Recessive and Weill-Marchesani Syndrome. Among its related pathways are HIV Life Cycle and O-linked glycosylation. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS6.

UniProtKB/Swiss-Prot for ADAMTS10 Gene

  • Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.

Gene Wiki entry for ADAMTS10 Gene

Additional gene information for ADAMTS10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS10 Gene

Genomics for ADAMTS10 Gene

Regulatory Elements for ADAMTS10 Gene

Enhancers for ADAMTS10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H008637 1.6 FANTOM5 Ensembl ENCODE 12.1 -28.8 -28774 3 FOXA2 ARID4B YY1 ZNF121 SLC30A9 REST ZNF623 KAT8 NFIL3 ATF4 MYO1F ADAMTS10 ACTL9 PRAM1 LOC100128428 LINC01862 ENSG00000261866 GC19P008677
GH19H008608 1.4 FANTOM5 ENCODE 12.8 0.0 -44 4 HDGF ATF1 FOXA2 SIN3A DMAP1 ZNF2 ZNF121 GLIS2 KLF7 KAT8 ZNF266 ZNF699 ZNF317 XAB2 ZNF558 ZNF559 HNRNPM ZNF177 ELAVL1 ZNF414
GH19H008524 1.3 ENCODE dbSUPER 11.6 +84.6 84614 2 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF143 HNRNPM ELAVL1 ZNF558 ZNF699 ZNF317 ZNF266 ZNF559 XAB2 ZNF414 ENSG00000269300
GH19H008663 0.9 Ensembl ENCODE 11.3 -53.7 -53658 1 BCOR ATF1 ETV1 ZSCAN4 ZMYM3 EBF1 ZNF580 KDM1A CREM ACTL9 ADAMTS10 ZNF559 ENSG00000261866 GC19P008677 LINC01862
GH19H008531 0.5 ENCODE 11.6 +78.3 78308 0 CEBPA ZSCAN4 HNF4A MYO1F ADAMTS10 ENSG00000268618 ZNF414
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS10 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106857 553 1601 HDGF FOXA2 ZNF493 SIN3A DMAP1 ZNF2 ZNF121 GLIS2 KLF7 KAT8

Genomic Location for ADAMTS10 Gene

Chromosome:
19
Start:
8,580,240 bp from pter
End:
8,610,753 bp from pter
Size:
30,514 bases
Orientation:
Minus strand

Genomic View for ADAMTS10 Gene

Genes around ADAMTS10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS10 Gene

Proteins for ADAMTS10 Gene

  • Protein details for ADAMTS10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H324-ATS10_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 10
    Protein Accession:
    Q9H324
    Secondary Accessions:
    • M0QZE4

    Protein attributes for ADAMTS10 Gene

    Size:
    1103 amino acids
    Molecular mass:
    120874 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with FBN1; this interaction promotes microfibrils assembly.

    Alternative splice isoforms for ADAMTS10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS10 Gene

Selected DME Specific Peptides for ADAMTS10 Gene

Q9H324:
  • VETLVVAD
  • CSRTCGGGV
  • PWGDCSR

Post-translational modifications for ADAMTS10 Gene

  • Glycosylated. Can be 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 ADAMTS family members. 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 (By similarity).
  • Glycosylation at Asn90, posLast=222222, Asn323, posLast=740740, Asn795, and Asn892
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ADAMTS10 Gene

Gene Families for ADAMTS10 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADAMTS10 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H324

UniProtKB/Swiss-Prot:

ATS10_HUMAN :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Domain:
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
genes like me logo Genes that share domains with ADAMTS10: view

Function for ADAMTS10 Gene

Molecular function for ADAMTS10 Gene

UniProtKB/Swiss-Prot Function:
Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.

Enzyme Numbers (IUBMB) for ADAMTS10 Gene

Phenotypes From GWAS Catalog for ADAMTS10 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 21402694
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS10: view
genes like me logo Genes that share phenotypes with ADAMTS10: view

Human Phenotype Ontology for ADAMTS10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS10

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADAMTS10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ADAMTS10 Gene

Localization for ADAMTS10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS10 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 ADAMTS10 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAMTS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 21402694
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IDA 21402694
genes like me logo Genes that share ontologies with ADAMTS10: view

Pathways & Interactions for ADAMTS10 Gene

genes like me logo Genes that share pathways with ADAMTS10: view

Gene Ontology (GO) - Biological Process for ADAMTS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ADAMTS10: view

No data available for SIGNOR curated interactions for ADAMTS10 Gene

Drugs & Compounds for ADAMTS10 Gene

No Compound Related Data Available

Transcripts for ADAMTS10 Gene

Unigene Clusters for ADAMTS10 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADAMTS10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS10 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: - -
SP8:
SP9: - - -
SP10:
SP11: -
SP12:
SP13: -
SP14:

ExUns: 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ADAMTS10 Gene

GeneLoc Exon Structure for
ADAMTS10
ECgene alternative splicing isoforms for
ADAMTS10

Expression for ADAMTS10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS10 Gene

Protein differential expression in normal tissues from HIPED for ADAMTS10 Gene

This gene is overexpressed in Heart (61.5) and Adipocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS10 Gene



Protein tissue co-expression partners for ADAMTS10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS10 Gene:

ADAMTS10

SOURCE GeneReport for Unigene cluster for ADAMTS10 Gene:

Hs.657508

mRNA Expression by UniProt/SwissProt for ADAMTS10 Gene:

Q9H324-ATS10_HUMAN
Tissue specificity: Widely expressed in adult tissues.

Evidence on tissue expression from TISSUES for ADAMTS10 Gene

  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ADAMTS10: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADAMTS10 Gene

Orthologs for ADAMTS10 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS10 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia ADAMTS10 33 34
  • 90.44 (n)
cow
(Bos Taurus)
Mammalia ADAMTS10 33 34
  • 90.02 (n)
rat
(Rattus norvegicus)
Mammalia Adamts10 33
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Adamts10 33 16 34
  • 87.14 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS10 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS10 33 34
  • 72.14 (n)
lizard
(Anolis carolinensis)
Reptilia ADAMTS10 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts10 33
  • 66.33 (n)
zebrafish
(Danio rerio)
Actinopterygii adamts10 33 34
  • 67.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14869 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 35
  • 35 (a)
C37C3.6b 35
  • 35 (a)
gon-1 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for ADAMTS10 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ADAMTS10 Gene

ENSEMBL:
Gene Tree for ADAMTS10 (if available)
TreeFam:
Gene Tree for ADAMTS10 (if available)

Paralogs for ADAMTS10 Gene

genes like me logo Genes that share paralogs with ADAMTS10: view

Variants for ADAMTS10 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS10 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_054439 Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
rs121434357 Pathogenic 8,601,029(-) TCAGC(C/T)GAGAG nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs121434358 Pathogenic 8,605,638(-) CGCAC(A/G)CCTTC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121434359 Pathogenic 8,597,075(-) AGTGG(C/T)AGAAA nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs267606636 Pathogenic 8,592,797(-) CGAGG(A/G)CACGC nc-transcript-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS10 Gene

Variant ID Type Subtype PubMed ID
dgv137n111 CNV deletion 26073780
esv2667281 CNV deletion 23128226
esv2677021 CNV deletion 23128226
esv2762024 CNV gain 21179565
esv3643619 CNV gain 21293372
esv3643620 CNV loss 21293372
esv3643621 CNV loss 21293372
nsv1071508 CNV deletion 25765185
nsv1144862 CNV deletion 24896259
nsv474823 CNV novel sequence insertion 20440878
nsv474838 CNV novel sequence insertion 20440878

Variation tolerance for ADAMTS10 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.77; 73.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS10 Gene

Human Gene Mutation Database (HGMD)
ADAMTS10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS10 Gene

Disorders for ADAMTS10 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ADAMTS10 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
weill-marchesani syndrome 1, recessive
  • weill-marchesani syndrome
weill-marchesani syndrome
  • congenital mesodermal dystrophy
adamts10-related weill-marchesani syndrome
tracheal stenosis
  • stenosis of trachea
tracheal disease
  • tracheal disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATS10_HUMAN
  • Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. {ECO:0000269 PubMed:15368195, ECO:0000269 PubMed:18567016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAMTS10

Genetic Association Database (GAD)
ADAMTS10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS10
genes like me logo Genes that share disorders with ADAMTS10: view

No data available for Genatlas for ADAMTS10 Gene

Publications for ADAMTS10 Gene

  1. Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. (PMID: 15355968) Somerville RP … Apte SS (The Journal of biological chemistry 2004) 3 4 22 60
  2. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (PMID: 15368195) Dagoneau N … Cormier-Daire V (American journal of human genetics 2004) 3 4 22 60
  3. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. (PMID: 21402694) Kutz WE … Apte SS (The Journal of biological chemistry 2011) 3 4 60
  4. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. (PMID: 19836009) Morales J … Al Tassan N (American journal of human genetics 2009) 3 22 60
  5. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. (PMID: 19696795) Ben Yahia S … Khairallah M (Journal of human genetics 2009) 3 22 60

Products for ADAMTS10 Gene

Sources for ADAMTS10 Gene

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