ADAMTSL4 Gene (Protein Coding)

ADAMTS Like 4

GC01P150549
GIFtS:
38
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate ... See more...

Aliases for ADAMTSL4 Gene

Aliases for ADAMTSL4 Gene

  • ADAMTS Like 4 2 3 5
  • Thrombospondin Repeat-Containing Protein 1 3 4
  • ADAMTS-Like Protein 4 3 4
  • ADAMTSL-4 3 4
  • TSRC1 3 4
  • Thrombospondin Repeat Containing 1 2
  • DKFZP434K1772 2
  • ADAMTSL4 5
  • ECTOL2 3

External Ids for ADAMTSL4 Gene

Previous HGNC Symbols for ADAMTSL4 Gene

  • TSRC1

Previous GeneCards Identifiers for ADAMTSL4 Gene

  • GC01P147336
  • GC01P148788
  • GC01P150522
  • GC01P121900

Summaries for ADAMTSL4 Gene

Entrez Gene Summary for ADAMTSL4 Gene

  • This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]

GeneCards Summary for ADAMTSL4 Gene

ADAMTSL4 (ADAMTS Like 4) is a Protein Coding gene. Diseases associated with ADAMTSL4 include Ectopia Lentis Et Pupillae and Ectopia Lentis 2, Isolated, Autosomal Recessive. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and protease binding. An important paralog of this gene is THSD4.

UniProtKB/Swiss-Prot Summary for ADAMTSL4 Gene

  • Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.

Gene Wiki entry for ADAMTSL4 Gene

Additional gene information for ADAMTSL4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTSL4 Gene

Genomics for ADAMTSL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ADAMTSL4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTSL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTSL4

Top Transcription factor binding sites by QIAGEN in the ADAMTSL4 gene promoter:
  • AhR
  • CREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)
  • STAT3

Genomic Locations for ADAMTSL4 Gene

Genomic Locations for ADAMTSL4 Gene
chr1:150,549,369-150,560,937
(GRCh38/hg38)
Size:
11,569 bases
Orientation:
Plus strand
chr1:150,521,884-150,533,413
(GRCh37/hg19)
Size:
11,530 bases
Orientation:
Plus strand

Genomic View for ADAMTSL4 Gene

Genes around ADAMTSL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTSL4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADAMTSL4 Gene

Proteins for ADAMTSL4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ADAMTSL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UY14-ATL4_HUMAN
    Recommended name:
    ADAMTS-like protein 4
    Protein Accession:
    Q6UY14
    Secondary Accessions:
    • B2RTT0
    • F8WAD0
    • Q5T5F7
    • Q6IPM6
    • Q8N643
    • Q9HBS6

    Protein attributes for ADAMTSL4 Gene

    Size:
    1074 amino acids
    Molecular mass:
    116545 Da
    Quaternary structure:
    • Interacts with CTSB. Interacts with FBN1.
    SequenceCaution:
    • Sequence=AAG17217.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ADAMTSL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTSL4 Gene

Protein Expression for ADAMTSL4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADAMTSL4 Gene

  • N-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. N- and C-glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Thr106, Ser107, Ser181, Thr260, Ser304, Thr319, Asn490, Asn773, and Asn1001
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ATL4_HUMAN (991)

Other Protein References for ADAMTSL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADAMTSL4 Gene

Domains & Families for ADAMTSL4 Gene

Gene Families for ADAMTSL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for ADAMTSL4 Gene

InterPro:
Blocks:
  • Thrombospondin, type I
ProtoNet:

Suggested Antigen Peptide Sequences for ADAMTSL4 Gene

GenScript: Design optimal peptide antigens:
  • Thrombospondin repeat-containing protein 1 (ATL4_HUMAN)
  • ADAMTSL4 protein (B2RTT0_HUMAN)
  • ADAMTSL4 protein (B7ZMJ3_HUMAN)
genes like me logo Genes that share domains with ADAMTSL4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ADAMTSL4 Gene

Function for ADAMTSL4 Gene

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  1. Animal Model
  2. CRISPR
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Molecular function for ADAMTSL4 Gene

UniProtKB/Swiss-Prot Function:
Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.

Phenotypes From GWAS Catalog for ADAMTSL4 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 16364318
GO:0004222 metalloendopeptidase activity IBA 21873635
GO:0005515 protein binding IPI 16189514
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTSL4: view
genes like me logo Genes that share phenotypes with ADAMTSL4: view

Human Phenotype Ontology for ADAMTSL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ADAMTSL4 Gene

miRTarBase miRNAs that target ADAMTSL4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTSL4 Gene

Localization for ADAMTSL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL4 Gene

Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils in the eye ECM.

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 ADAMTSL4 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005614 interstitial matrix IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix IEA,IBA 21873635
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA 28327460
genes like me logo Genes that share ontologies with ADAMTSL4: view

Pathways & Interactions for ADAMTSL4 Gene

genes like me logo Genes that share pathways with ADAMTSL4: view

Gene Ontology (GO) - Biological Process for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002064 epithelial cell development IEA --
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0043065 positive regulation of apoptotic process IDA 16364318
genes like me logo Genes that share ontologies with ADAMTSL4: view

No data available for SIGNOR curated interactions for ADAMTSL4 Gene

Drugs & Compounds for ADAMTSL4 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for ADAMTSL4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ADAMTSL4 Gene

5 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL4

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL4 Gene

No ASD Table

Relevant External Links for ADAMTSL4 Gene

GeneLoc Exon Structure for
ADAMTSL4

Expression for ADAMTSL4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTSL4 Gene

mRNA expression in normal human tissues for ADAMTSL4 Gene
mRNA expression by BioGPS for ADAMTSL4 GenemRNA expression by GTEx for ADAMTSL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADAMTSL4 Gene

This gene is overexpressed in Serum (49.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTSL4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTSL4

SOURCE GeneReport for Unigene cluster for ADAMTSL4 Gene:

Hs.516243

mRNA Expression by UniProt/SwissProt for ADAMTSL4 Gene:

Q6UY14-ATL4_HUMAN
Tissue specificity: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin.

Evidence on tissue expression from TISSUES for ADAMTSL4 Gene

  • Liver(4.2)
  • Bone marrow(4.1)
  • Muscle(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTSL4 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ADAMTSL4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADAMTSL4 Gene

Orthologs for ADAMTSL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTSL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ADAMTSL4 30 31
  • 99.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ADAMTSL4 30 31
  • 86.62 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ADAMTSL4 30 31
  • 85.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Adamtsl4 30
  • 82.44 (n)
Mouse
(Mus musculus)
 Mammalia Adamtsl4 30 17 31
  • 82.3 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ADAMTSL4 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 31 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 25 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia ADAMTSL4 31
  • 50 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia adamtsl4 30
  • 56.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100333903 30
  • 56.71 (n)
ADAMTSL4 31
  • 37 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6232 31
  • 25 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 33 (a)
 OneToMany
Species where no ortholog for ADAMTSL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 ADAMTSL4 Gene

ENSEMBL:
Gene Tree for ADAMTSL4 (if available)
TreeFam:
Gene Tree for ADAMTSL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTSL4: view image

Paralogs for ADAMTSL4 Gene

Paralogs for ADAMTSL4 Gene

(3) SIMAP similar genes for ADAMTSL4 Gene using alignment to 4 proteins:

  • ATL4_HUMAN
  • B2RTT0_HUMAN
  • B7ZMJ3_HUMAN
  • F8WAD0_HUMAN
genes like me logo Genes that share paralogs with ADAMTSL4: view

Variants for ADAMTSL4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTSL4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
691918 Uncertain Significance: Craniosynostosis 150,556,710(+) C/T NONSENSE
717808 Benign: Ectopia lentis 2, isolated, autosomal recessive; not provided 150,553,794(+) C/T MISSENSE_VARIANT
724482 Conflicting Interpretations: Ectopia lentis 2, isolated, autosomal recessive; not provided 150,557,328(+) C/T SYNONYMOUS_VARIANT
725797 Benign: not provided 150,555,502(+) G/A SYNONYMOUS_VARIANT
728991 Benign: not provided 150,553,613(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTSL4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL4 Gene

Variant ID Type Subtype PubMed ID
nsv1006838 CNV gain 25217958
nsv1144403 CNV deletion 24896259
nsv527379 CNV loss 19592680

Variation tolerance for ADAMTSL4 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTSL4 Gene

Human Gene Mutation Database (HGMD)
ADAMTSL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTSL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL4 Gene

Disorders for ADAMTSL4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ADAMTSL4 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ectopia lentis et pupillae
  • ectopia lentis with ectopia of pupil
ectopia lentis 2, isolated, autosomal recessive
  • ectol2
isolated ectopia lentis
  • familial ectopia lentis
craniosynostosis with ectopia lentis
retinal detachment
  • retinal detachments
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATL4_HUMAN
  • Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) [MIM:225100]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. {ECO:0000269 PubMed:19200529}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectopia lentis et pupillae (ECTOLP) [MIM:225200]: An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. {ECO:0000269 PubMed:20702823}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAMTSL4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADAMTSL4: view

No data available for Genatlas for ADAMTSL4 Gene

Publications for ADAMTSL4 Gene

  1. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. (PMID: 12706885) Buchner DA … Meisler MH (Gene 2003) 2 3 4 23
  2. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. (PMID: 21989719) Gabriel LA … Apte SS (Investigative ophthalmology & visual science 2012) 3 4
  3. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. (PMID: 20702823) Christensen AE … Rødahl E (Investigative ophthalmology & visual science 2010) 3 4
  4. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. (PMID: 19200529) Ahram D … El-Shanti H (American journal of human genetics 2009) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

ExternalLinks

View latest publications for ADAMTSL4 gene in Mastermind

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