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Aliases for ADAMTSL5 Gene

Aliases for ADAMTSL5 Gene

  • ADAMTS Like 5 2 3 5
  • Thrombospondin Type-1 Domain-Containing Protein 6 3 4
  • Thrombospondin, Type I, Domain Containing 6 2 3
  • ADAMTSL-5 3 4
  • THSD6 3 4
  • ADAMTS-Like Protein 5 3

External Ids for ADAMTSL5 Gene

Previous HGNC Symbols for ADAMTSL5 Gene

  • THSD6

Previous GeneCards Identifiers for ADAMTSL5 Gene

  • GC19M001460
  • GC19M001279

Summaries for ADAMTSL5 Gene

GeneCards Summary for ADAMTSL5 Gene

ADAMTSL5 (ADAMTS Like 5) is a Protein Coding gene. Among its related pathways are O-glycosylation of TSR domain-containing proteins and HIV Life Cycle. GO annotations related to this gene include heparin binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.

UniProtKB/Swiss-Prot for ADAMTSL5 Gene

  • May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL5 Gene

Genomics for ADAMTSL5 Gene

Regulatory Elements for ADAMTSL5 Gene

Enhancers for ADAMTSL5 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
GH19F001542 0.2 ENCODE 12.8 -29.2 -29173 0.2 TBP HDAC1 CBX3 ATF1 CREB3L1 BMI1 POLR3A ELK1 FOS CREM ADAMTSL5 WDR18 ATP8B3 MIR1909 REXO1 TCF3 GC19M001551 PLK5
GH19F001506 0.9 Ensembl ENCODE 5.5 +3.0 3001 7.5 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SF3A2 LOC100288123 TMEM259 ENSG00000267317 ADAT3 GRIN3B REEP6 ADAMTSL5 ENSG00000261526 ENSG00000267092
GH19F001522 0.3 FANTOM5 0.4 -9.4 -9393 0.2 NFIL3 HLF USF2 ZBTB8A KDM1A PLK5 MUM1 ADAMTSL5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ADAMTSL5 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTSL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000341547 404 1601 HDGF ZFP64 ARID4B SIN3A ZNF2 ZNF48 ZNF121 GTF3C2 GLIS2 ELK1

Genomic Location for ADAMTSL5 Gene

Chromosome:
19
Start:
1,505,018 bp from pter
End:
1,513,604 bp from pter
Size:
8,587 bases
Orientation:
Minus strand

Genomic View for ADAMTSL5 Gene

Genes around ADAMTSL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTSL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL5 Gene

Proteins for ADAMTSL5 Gene

  • Protein details for ADAMTSL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMM2-ATL5_HUMAN
    Recommended name:
    ADAMTS-like protein 5
    Protein Accession:
    Q6ZMM2
    Secondary Accessions:
    • B4DXK7
    • Q8IW95

    Protein attributes for ADAMTSL5 Gene

    Size:
    481 amino acids
    Molecular mass:
    53193 Da
    Quaternary structure:
    • Interacts with heparin, FBN1 and FBN2.

    Alternative splice isoforms for ADAMTSL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTSL5 Gene

Post-translational modifications for ADAMTSL5 Gene

  • Contains at least one additional N-linked glycosylation site.
  • Proteolytically cleaved to release a C-terminal fragment containing the NTR domain.
  • Glycosylation at Asn 218

No data available for DME Specific Peptides for ADAMTSL5 Gene

Domains & Families for ADAMTSL5 Gene

Gene Families for ADAMTSL5 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZMM2

UniProtKB/Swiss-Prot:

ATL5_HUMAN :
  • Contains 1 NTR domain.
Domain:
  • Contains 1 NTR domain.
  • Contains 1 TSP type-1 domain.
genes like me logo Genes that share domains with ADAMTSL5: view

Function for ADAMTSL5 Gene

Molecular function for ADAMTSL5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM).

Gene Ontology (GO) - Molecular Function for ADAMTSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008201 heparin binding IDA 23010571
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTSL5: view

Phenotypes for ADAMTSL5 Gene

genes like me logo Genes that share phenotypes with ADAMTSL5: view

Animal Models for ADAMTSL5 Gene

MGI Knock Outs for ADAMTSL5:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTSL5

miRNA for ADAMTSL5 Gene

miRTarBase miRNAs that target ADAMTSL5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTSL5 Gene

Localization for ADAMTSL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL5 Gene

Secreted. Secreted, extracellular space, extracellular matrix. Note=Colocalized with fibrillin microfibrils. Predominantly distributed in baso-lateral regions of fibroblast extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAMTSL5 Gene COMPARTMENTS Subcellular localization image for ADAMTSL5 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for ADAMTSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 colocalizes_with microfibril IDA 23010571
GO:0005576 extracellular region IEA,IDA 23010571
GO:0005578 proteinaceous extracellular matrix IEA,IDA 23010571
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTSL5: view

Pathways & Interactions for ADAMTSL5 Gene

genes like me logo Genes that share pathways with ADAMTSL5: view

Gene Ontology (GO) - Biological Process for ADAMTSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ADAMTSL5: view

No data available for SIGNOR curated interactions for ADAMTSL5 Gene

Transcripts for ADAMTSL5 Gene

Unigene Clusters for ADAMTSL5 Gene

ADAMTS-like 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2: - -
SP3: - -
SP4:

Relevant External Links for ADAMTSL5 Gene

GeneLoc Exon Structure for
ADAMTSL5
ECgene alternative splicing isoforms for
ADAMTSL5

Expression for ADAMTSL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTSL5 Gene

mRNA differential expression in normal tissues according to GTEx for ADAMTSL5 Gene

This gene is overexpressed in Cervix - Ectocervix (x5.7), Vagina (x5.3), and Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for ADAMTSL5 Gene

This gene is overexpressed in Testis (49.9) and Rectum (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTSL5 Gene



Protein tissue co-expression partners for ADAMTSL5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTSL5 Gene:

ADAMTSL5

SOURCE GeneReport for Unigene cluster for ADAMTSL5 Gene:

Hs.371674
genes like me logo Genes that share expression patterns with ADAMTSL5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ADAMTSL5 Gene

Orthologs for ADAMTSL5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTSL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTSL5 34 35
  • 98.51 (n)
dog
(Canis familiaris)
Mammalia ADAMTSL5 34 35
  • 85.13 (n)
rat
(Rattus norvegicus)
Mammalia Adamtsl5 34
  • 82.21 (n)
mouse
(Mus musculus)
Mammalia Adamtsl5 34 16 35
  • 79.37 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ADAMTSL5 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTSL5 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTSL5 34 35
  • 63.88 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487633 34
  • 49.47 (n)
zebrafish
(Danio rerio)
Actinopterygii CR382298.3 35
  • 33 (a)
OneToOne
Species where no ortholog for ADAMTSL5 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)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTSL5 Gene

ENSEMBL:
Gene Tree for ADAMTSL5 (if available)
TreeFam:
Gene Tree for ADAMTSL5 (if available)

Paralogs for ADAMTSL5 Gene

Paralogs for ADAMTSL5 Gene

(2) SIMAP similar genes for ADAMTSL5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ADAMTSL5: view

Variants for ADAMTSL5 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111392241 -- 1,511,195(+) GTTTT(G/T)GAGAC intron-variant
rs111513482 -- 1,506,246(+) TAGAC(A/G)AGCTG reference, synonymous-codon
rs111619550 -- 1,511,246(+) GATCT(C/T)GGCTC intron-variant
rs111963703 -- 1,508,152(+) GGGAG(A/G)GGCAG intron-variant
rs112104243 -- 1,508,779(+) GGCTG(-/CATT/CATTCATT)CATTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL5 Gene

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643399 CNV loss 21293372
esv3643401 CNV loss 21293372
esv3643402 CNV loss 21293372
nsv470105 CNV gain 18288195
nsv470106 CNV loss 18288195
nsv578279 CNV gain 21841781
nsv578295 CNV gain 21841781
nsv578296 CNV loss 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

Variation tolerance for ADAMTSL5 Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTSL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTSL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL5 Gene

Disorders for ADAMTSL5 Gene

Relevant External Links for ADAMTSL5

Genetic Association Database (GAD)
ADAMTSL5
Human Genome Epidemiology (HuGE) Navigator
ADAMTSL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTSL5

No disorders were found for ADAMTSL5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADAMTSL5 Gene

Publications for ADAMTSL5 Gene

  1. A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module. (PMID: 23010571) Bader H.L. … Apte S.S. (Matrix Biol. 2012) 3 4 64
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ADAMTSL5 Gene

Sources for ADAMTSL5 Gene

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