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Aliases for ADAMTS14 Gene

Aliases for ADAMTS14 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 14 2
  • EC 3.4.24.14 61
  • EC 3.4.24.82 61
  • EC 3.4.24.- 4
  • ADAM-TS 14 4
  • ADAM-TS14 4
  • ADAMTS-14 4
  • EC 3.4.24 61

External Ids for ADAMTS14 Gene

Previous GeneCards Identifiers for ADAMTS14 Gene

  • GC10P071167
  • GC10P071519
  • GC10P072324
  • GC10P071777
  • GC10P072102
  • GC10P072432
  • GC10P066426

Summaries for ADAMTS14 Gene

Entrez Gene Summary for ADAMTS14 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]

GeneCards Summary for ADAMTS14 Gene

ADAMTS14 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14) is a Protein Coding gene. Among its related pathways are O-glycosylation of TSR domain-containing proteins and Diseases of glycosylation. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS3.

UniProtKB/Swiss-Prot for ADAMTS14 Gene

  • Has a aminoprocollagen type I activity processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS14 Gene

Genomics for ADAMTS14 Gene

Regulatory Elements for ADAMTS14 Gene

Enhancers for ADAMTS14 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
GH10G070661 1.8 FANTOM5 Ensembl ENCODE dbSUPER 28.2 -8.8 -8814 4.8 HDGF PKNOX1 ATF1 SIN3A ZNF766 FOS KLF13 KDM4B REST MEF2D ADAMTS14 GC10M070611
GH10G070671 1.6 FANTOM5 ENCODE dbSUPER 31.4 +1.2 1182 4.2 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 ELK1 FOS KLF13 ADAMTS14 TBATA
GH10G070655 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.7 -15.8 -15770 3.0 CBX3 ATF1 EGR1 FOS IKZF2 CREM EGR2 SMARCA5 CBFB ZNF623 ADAMTS14 PRF1 PCBD1 NODAL GC10M070611
GH10G070651 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.2 -19.4 -19350 2.9 PKNOX1 ATF1 CREB3L1 ZBTB7B ZNF766 GATA2 CBX5 CEBPZ CAVIN1 ZNF592 ADAMTS14 PRF1 GC10M070611
GH10G070575 1.6 Ensembl ENCODE dbSUPER 27.5 -94.4 -94394 5.2 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 YBX1 ZNF2 ADAMTS14 PRF1 NPFFR1 PCBD1 YY1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS14 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029453 61 801 HDGF CREB3L1 ZNF766 ELK1 KLF13 NCOA1 REST MEF2D SREBF1 SMARCA4

Genomic Location for ADAMTS14 Gene

Chromosome:
10
Start:
70,672,539 bp from pter
End:
70,762,441 bp from pter
Size:
89,903 bases
Orientation:
Plus strand

Genomic View for ADAMTS14 Gene

Genes around ADAMTS14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS14 Gene

Proteins for ADAMTS14 Gene

  • Protein details for ADAMTS14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXS8-ATS14_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 14
    Protein Accession:
    Q8WXS8
    Secondary Accessions:
    • Q5T4G0
    • Q5T4G1
    • Q8TE55
    • Q8TEY8

    Protein attributes for ADAMTS14 Gene

    Size:
    1223 amino acids
    Molecular mass:
    133888 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS14 Gene

Selected DME Specific Peptides for ADAMTS14 Gene

Q8WXS8:
  • CSQPVWVT
  • CFKGHCIW
  • MAPLVQAAFHR
  • SNCDGLAG
  • VCGGDNS
  • LNHEDGFSSAFV
  • TKYGCRR
  • EIYHDESLG
  • AHETGHVLGMEHDGQGN
  • CSRSCGGG
  • HETGHVLG
  • PCKQLWCSHPDNPYFCKTKKGPPLDGT
  • EQCRFDFG
  • DKCGVCGG
  • GYAPVTGMCHP
  • VHDGTRCSY

Post-translational modifications for ADAMTS14 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).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn109, Asn475, posLast=941941, Asn1027, and posLast=12201220
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS14 Gene

Gene Families for ADAMTS14 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXS8

UniProtKB/Swiss-Prot:

ATS14_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 ADAMTS14: view

Function for ADAMTS14 Gene

Molecular function for ADAMTS14 Gene

UniProtKB/Swiss-Prot Function:
Has a aminoprocollagen type I activity processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity.

Enzyme Numbers (IUBMB) for ADAMTS14 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS14: view
genes like me logo Genes that share phenotypes with ADAMTS14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS14 Gene

Localization for ADAMTS14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS14 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 ADAMTS14 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTS14: view

Pathways & Interactions for ADAMTS14 Gene

genes like me logo Genes that share pathways with ADAMTS14: view

Gene Ontology (GO) - Biological Process for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030199 collagen fibril organization IEA --
GO:0030574 collagen catabolic process IEA --
genes like me logo Genes that share ontologies with ADAMTS14: view

No data available for SIGNOR curated interactions for ADAMTS14 Gene

Drugs & Compounds for ADAMTS14 Gene

No Compound Related Data Available

Transcripts for ADAMTS14 Gene

mRNA/cDNA for ADAMTS14 Gene

(11) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADAMTS14 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5: -

ExUns: 22 ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ADAMTS14 Gene

GeneLoc Exon Structure for
ADAMTS14
ECgene alternative splicing isoforms for
ADAMTS14

Expression for ADAMTS14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS14 Gene

mRNA differential expression in normal tissues according to GTEx for ADAMTS14 Gene

This gene is overexpressed in Nerve - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for ADAMTS14 Gene

This gene is overexpressed in Heart (57.1) and Amniocyte (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS14 Gene



Protein tissue co-expression partners for ADAMTS14 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS14 Gene:

ADAMTS14

SOURCE GeneReport for Unigene cluster for ADAMTS14 Gene:

Hs.352156

mRNA Expression by UniProt/SwissProt for ADAMTS14 Gene:

Q8WXS8-ATS14_HUMAN
Tissue specificity: Expressed in retina and at low levels in brain, lung and placenta. High expression in fetal tissues.

Evidence on tissue expression from TISSUES for ADAMTS14 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with ADAMTS14: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS14 Gene

Orthologs for ADAMTS14 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS14 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ADAMTS14 34 35
  • 87.36 (n)
cow
(Bos Taurus)
Mammalia ADAMTS14 34 35
  • 87.27 (n)
mouse
(Mus musculus)
Mammalia Adamts14 34 16 35
  • 82.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS14 35
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts14 34
  • 80.72 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS14 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS14 34
  • 73.2 (n)
SGPL1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTS14 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts14 34
  • 66.79 (n)
zebrafish
(Danio rerio)
Actinopterygii ADAMTS14 35
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 36
  • 31 (a)
C37C3.6b 36
  • 31 (a)
T19D2.1 36
  • 27 (a)
Species where no ortholog for ADAMTS14 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)
  • fruit fly (Drosophila melanogaster)
  • 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 ADAMTS14 Gene

ENSEMBL:
Gene Tree for ADAMTS14 (if available)
TreeFam:
Gene Tree for ADAMTS14 (if available)

Paralogs for ADAMTS14 Gene

(2) SIMAP similar genes for ADAMTS14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ADAMTS14: view

Variants for ADAMTS14 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS14 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000007435 -- 70,679,952(+) GGGGC(G/T)GGGGG intron-variant
rs1000015177 -- 70,738,785(+) CTCCC(C/T)GGGTG intron-variant
rs1000067655 -- 70,738,484(+) TCAAC(A/T)CTAGC intron-variant
rs1000117015 -- 70,673,901(+) TCACC(A/C/G)CCTGT intron-variant
rs1000155369 -- 70,715,276(+) TAATG(A/C)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS14 Gene

Variant ID Type Subtype PubMed ID
dgv1257n54 CNV loss 21841781
dgv1258n54 CNV loss 21841781
dgv1259n54 CNV loss 21841781
dgv1260n54 CNV loss 21841781
dgv1261n54 CNV loss 21841781
dgv153e199 CNV deletion 23128226
dgv160n67 CNV gain 20364138
dgv161n67 CNV loss 20364138
dgv162n67 CNV loss 20364138
esv24062 CNV loss 19812545
esv2738206 CNV deletion 23290073
esv29646 CNV gain+loss 19812545
esv32737 CNV gain+loss 17666407
esv3423969 CNV duplication 20981092
esv3546483 CNV deletion 23714750
esv3623768 CNV loss 21293372
nsv1043245 CNV loss 25217958
nsv1118176 CNV deletion 24896259
nsv467368 CNV loss 19166990
nsv467369 CNV loss 19166990
nsv514572 CNV gain+loss 21397061
nsv514573 CNV gain+loss 21397061
nsv517130 CNV gain+loss 19592680
nsv524058 CNV loss 19592680
nsv551493 CNV loss 21841781
nsv551494 CNV loss 21841781
nsv819483 CNV gain 19587683
nsv819639 CNV gain 19587683
nsv821367 CNV deletion 20802225
nsv825452 CNV gain 20364138
nsv825457 CNV loss 20364138
nsv831909 CNV loss 17160897

Variation tolerance for ADAMTS14 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.72; 96.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS14 Gene

Disorders for ADAMTS14 Gene

Relevant External Links for ADAMTS14

Genetic Association Database (GAD)
ADAMTS14
Human Genome Epidemiology (HuGE) Navigator
ADAMTS14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS14

No disorders were found for ADAMTS14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADAMTS14 Gene

Publications for ADAMTS14 Gene

  1. Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family. (PMID: 11779638) Bolz H. … Kubisch C. (Biochim. Biophys. Acta 2001) 2 3 4 22 64
  2. Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis. (PMID: 15913795) Goertsches R. … Montalban X. (J. Neuroimmunol. 2005) 3 22 46 64
  3. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PMID: 21254220) Jiang Y. … Zhang H. (Genet. Epidemiol. 2011) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. (PMID: 19851299) Johansson A. … Gyllensten U. (Obesity (Silver Spring) 2010) 3 46 64

Products for ADAMTS14 Gene

Sources for ADAMTS14 Gene

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