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Aliases for ADAMTSL4 Gene

Aliases for ADAMTSL4 Gene

  • ADAMTS Like 4 2 3 5
  • Thrombospondin Repeat-Containing Protein 1 3 4
  • ADAMTSL-4 3 4
  • TSRC1 3 4
  • Thrombospondin Repeat Containing 1 2
  • 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, isolated, autosomal recessive. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include peptidase activity and protease binding. An important paralog of this gene is ADAMTSL1.

UniProtKB/Swiss-Prot for ADAMTSL4 Gene

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

Gene Wiki entry for ADAMTSL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL4 Gene

Genomics for ADAMTSL4 Gene

Regulatory Elements for ADAMTSL4 Gene

Promoters for ADAMTSL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADAMTSL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTSL4 Gene

Chromosome:
1
Start:
150,549,369 bp from pter
End:
150,560,937 bp from pter
Size:
11,569 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 StructureGene Density

RefSeq DNA sequence for ADAMTSL4 Gene

Proteins for ADAMTSL4 Gene

  • 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; Positions=719; Evidence={ECO:0000305};

    Alternative splice isoforms for ADAMTSL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTSL4 Gene

Proteomics data for ADAMTSL4 Gene at MOPED

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 Ser 107, Ser 181, Thr 260, Ser 304, Thr 319, Asn 490, and Asn 773
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTSL4 Gene

No data available for DME Specific Peptides for ADAMTSL4 Gene

Domains & Families for ADAMTSL4 Gene

Gene Families for ADAMTSL4 Gene

Protein Domains for ADAMTSL4 Gene

Suggested Antigen Peptide Sequences for ADAMTSL4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UY14

UniProtKB/Swiss-Prot:

ATL4_HUMAN :
  • Contains 1 PLAC domain.
Domain:
  • Contains 1 PLAC domain.
  • Contains 6 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTSL4: view

Function for ADAMTSL4 Gene

Molecular function for ADAMTSL4 Gene

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

miRNA for ADAMTSL4 Gene

miRTarBase miRNAs that target ADAMTSL4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ADAMTSL4 Gene COMPARTMENTS Subcellular localization image for ADAMTSL4 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
plasma membrane 3
cytosol 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix IEA --
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

Pathways by source for ADAMTSL4 Gene

Gene Ontology (GO) - Biological Process for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0006915 apoptotic process IEA --
GO:0036066 protein O-linked fucosylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
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

No Compound Related Data Available

Transcripts for ADAMTSL4 Gene

Unigene Clusters for ADAMTSL4 Gene

ADAMTS-like 4:
Representative Sequences:

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

No ASD Table

Relevant External Links for ADAMTSL4 Gene

GeneLoc Exon Structure for
ADAMTSL4
ECgene alternative splicing isoforms for
ADAMTSL4

Expression for ADAMTSL4 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ADAMTSL4 Gene



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.
genes like me logo Genes that share expression patterns with ADAMTSL4: view

Primer Products

In Situ Assay 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 36
  • 97 (a)
OneToOne
ADAMTSL4 35
  • 99.32 (n)
  • 99.26 (a)
cow
(Bos Taurus)
Mammalia ADAMTSL4 35
  • 86.62 (n)
  • 86.53 (a)
ADAMTSL4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTSL4 36
  • 83 (a)
OneToOne
ADAMTSL4 35
  • 85.13 (n)
  • 82.97 (a)
mouse
(Mus musculus)
Mammalia Adamtsl4 16
Adamtsl4 36
  • 79 (a)
OneToOne
Adamtsl4 35
  • 82.3 (n)
  • 80.04 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTSL4 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Adamtsl4 35
  • 82.44 (n)
  • 79.4 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 25 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ADAMTSL4 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl4 35
  • 56.28 (n)
  • 53.37 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333903 35
  • 56.71 (n)
  • 50.3 (a)
ADAMTSL4 36
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6232 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for ADAMTSL4:
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTSL4 Gene

ENSEMBL:
Gene Tree for ADAMTSL4 (if available)
TreeFam:
Gene Tree for ADAMTSL4 (if available)

Paralogs for ADAMTSL4 Gene

Paralogs for ADAMTSL4 Gene

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

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

Variants for ADAMTSL4 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_061918 -
VAR_061919 -
rs117403663 -- 150,560,322(+) ACAGA(A/G)GGTGG nc-transcript-variant, utr-variant-3-prime
rs113799188 -- 150,560,110(+) AGGCC(A/C)GGCTC nc-transcript-variant, reference, synonymous-codon
rs113813429 -- 150,560,261(+) CCACT(C/G)TGAAC nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for ADAMTSL4 Gene

HapMap Linkage Disequilibrium report
ADAMTSL4
Human Gene Mutation Database (HGMD)
ADAMTSL4

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

Disorders for ADAMTSL4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ectopia lentis et pupillae
  • ectopia lentis with ectopia of pupil
ectopia lentis, isolated, autosomal recessive
  • ectopia lentis, isolated autosomal recessive
isolated ectopia lentis
  • lens subluxation
adamtsl4-related eye disorders
macular degeneration, early-onset
  • eomd
- 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.

Relevant External Links for ADAMTSL4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTSL4
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 D.A. … Meisler M.H. (Gene 2003) 2 3 4 23 67
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. (PMID: 24802351) Zhou X.M. … Liu X.Y. (Acta Ophthalmol 2014) 3
  5. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. (PMID: 23585552) Kirin M. … Mitry D. (Hum. Mol. Genet. 2013) 3

Products for ADAMTSL4 Gene

Sources for ADAMTSL4 Gene

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