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
  • ADAMTS-Like Protein 5 3 4
  • ADAMTSL-5 3 4
  • THSD6 3 4

External Ids for ADAMTSL5 Gene

Previous HGNC Symbols for ADAMTSL5 Gene

  • THSD6

Previous GeneCards Identifiers for ADAMTSL5 Gene

  • GC19M001460
  • GC19M001279
  • GC19M001510

Summaries for ADAMTSL5 Gene

GeneCards Summary for ADAMTSL5 Gene

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

UniProtKB/Swiss-Prot Summary for ADAMTSL5 Gene

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

Additional gene information for ADAMTSL5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTSL5 Gene

Genomics for ADAMTSL5 Gene

GeneHancer (GH) Regulatory Elements for ADAMTSL5 Gene

Promoters and enhancers for ADAMTSL5 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
GH19J001506 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 +4.1 4129 9.7 GTF3C2 ZNF24 ZBTB40 SP1 CTCF RBPJ SMARCE1 POLR2A ATF1 FOS ENSG00000267092 DAZAP1 SF3A2 TMEM259 LOC100288123 ENSG00000267317 TCF3 SBNO2 DOT1L MIDN
GH19J001542 Enhancer 0.8 ENCODE 12.8 -29.2 -29173 0.2 SMARCE1 USF2 CC2D1A NFYC DACH1 SP1 GTF2F1 CSDE1 CBFA2T2 SMARCA4 lnc-MEX3D-5 TCF3 SF3A2 ENSG00000267317 LOC100288123 SBNO2 CNN2 TMEM259 LMNB2 DAZAP1
GH19J001538 Enhancer 0.4 Ensembl 12.8 -25.5 -25497 0.6 PRDM1 ZIC2 NFIA GLIS1 RF00017-2725 ADAMTSL5 ATP8B3 REXO1 RNU6-1223P TCF3 PLK5 piR-50443-189
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTSL5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTSL5 gene promoter:
  • AhR
  • AML1a
  • AP-2gamma
  • Arnt
  • ARP-1
  • ATF6
  • C/EBPalpha
  • Cdc5
  • Msx-1
  • Pax-5

Genomic Locations for ADAMTSL5 Gene

Genomic Locations for ADAMTSL5 Gene
chr19:1,505,018-1,513,604
(GRCh38/hg38)
Size:
8,587 bases
Orientation:
Minus strand
chr19:1,505,017-1,513,603
(GRCh37/hg19)
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

  • Proteolytically cleaved to release a C-terminal fragment containing the NTR domain.
  • Contains at least one additional N-linked glycosylation site.
  • Glycosylation at Asn218

No data available for DME Specific Peptides for ADAMTSL5 Gene

Domains & Families for ADAMTSL5 Gene

Gene Families for ADAMTSL5 Gene

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

Suggested Antigen Peptide Sequences for ADAMTSL5 Gene

GenScript: Design optimal peptide antigens:
  • ADAMTSL5 protein (A4QPG6_HUMAN)
  • Thrombospondin type-1 domain-containing protein 6 (ATL5_HUMAN)
  • cDNA FLJ57655, highly similar to Homo sapiens thrombospondin, type I, domain containing 6 (THSD6), mRNA (B4DXK7_HUMAN)
genes like me logo Genes that share domains with ADAMTSL5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ADAMTSL5 Gene

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:0008201 heparin binding IDA 23010571
genes like me logo Genes that share ontologies with ADAMTSL5: view
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

CRISPR Products

miRNA for ADAMTSL5 Gene

miRTarBase miRNAs that target ADAMTSL5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 ADAMTSL5 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

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 IDA,IEA 23010571
GO:0031012 extracellular matrix IEA,IDA 23010571
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

None

No data available for SIGNOR curated interactions for ADAMTSL5 Gene

Drugs & Compounds for ADAMTSL5 Gene

No Compound Related Data Available

Transcripts for ADAMTSL5 Gene

mRNA/cDNA for ADAMTSL5 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL5

Clone 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 CGAP 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 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

Evidence on tissue expression from TISSUES for ADAMTSL5 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ADAMTSL5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 98.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTSL5 33 32
  • 85.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamtsl5 32
  • 82.21 (n)
mouse
(Mus musculus)
Mammalia Adamtsl5 17 33 32
  • 79.37 (n)
cow
(Bos Taurus)
Mammalia -- 33
  • 79 (a)
OneToMany
-- 33
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ADAMTSL5 33
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTSL5 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTSL5 33 32
  • 63.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487633 32
  • 49.47 (n)
zebrafish
(Danio rerio)
Actinopterygii CR382298.3 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTSL5: view image

Paralogs for ADAMTSL5 Gene

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

  • ATL5_HUMAN
  • A4QPG6_HUMAN
  • K7EJ85_HUMAN
  • K7ELN4_HUMAN
  • K7ELV0_HUMAN
  • Q0VD77_HUMAN
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 Variation AA Info Type
rs1000248511 -- 1,509,098(-) A/G intron_variant
rs1000387171 -- 1,514,992(-) GGG/GG upstream_transcript_variant
rs1000662902 -- 1,513,419(-) C/A/T upstream_transcript_variant
rs1000732323 -- 1,514,618(-) T/C upstream_transcript_variant
rs1000771630 -- 1,509,307(-) C/T 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)

Additional Variant Information 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

Additional Disease Information for ADAMTSL5

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

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 HL … Apte SS (Matrix biology : journal of the International Society for Matrix Biology 2012) 2 3 4 56
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 43 56
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for ADAMTSL5 Gene

Sources for ADAMTSL5 Gene