Human Gene ADAMTSL4 (uc001eux.3) Description and Page Index
  Description: Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.
RefSeq Summary (NM_019032): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:150,521,898-150,533,412 Size: 11,515 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr1:150,524,765-150,532,672 Size: 7,908 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:150,521,898-150,533,412)mRNA (may differ from genome)Protein (1074 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ADAMTS-like protein 4; Short=ADAMTSL-4; AltName: Full=Thrombospondin repeat-containing protein 1; Flags: Precursor;
FUNCTION: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.
SUBUNIT: Interacts with CTSB. Interacts with FBN1.
INTERACTION: O75716:STK16; NbExp=3; IntAct=EBI-742002, EBI-749295;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils in the eye ECM.
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.
PTM: N-glycosylated.
DISEASE: Defects in ADAMTSL4 are a cause of ectopia lentis, isolated, autosomal recessive (ECTOL2) [MIM:225100]. A rare condition characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.
SIMILARITY: Contains 1 PLAC domain.
SIMILARITY: Contains 6 TSP type-1 domains.
CAUTION: Although similar to members of the ADAMTS family, it lacks the metalloprotease and disintegrin-like domains which are typical of that family.
SEQUENCE CAUTION: Sequence=AAG17217.1; Type=Frameshift; Positions=719;

-  MalaCards Disease Associations
  MalaCards Gene Search: ADAMTSL4
Diseases sorted by gene-association score: ectopia lentis et pupillae* (1030), ectopia lentis, isolated, autosomal recessive* (1000), isolated ectopia lentis* (261), adamtsl4-related eye disorders* (100), retinal detachment (13), astigmatism (11), anisometropia (8), weill-marchesani syndrome (6), orthostatic intolerance (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.01 RPKM in Nerve - Tibial
Total median expression: 745.98 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.50236-0.489 Picture PostScript Text
3' UTR -262.20740-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010294 - ADAM_spacer1
IPR010909 - PLAC
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF00090 - Thrombospondin type 1 domain
PF05986 - ADAM-TS Spacer 1
PF08686 - PLAC (protease and lacunin) domain

SCOP Domains:
82895 - TSP-1 type 1 repeat

ModBase Predicted Comparative 3D Structure on Q6UY14
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0005515 protein binding
GO:0008233 peptidase activity

Biological Process:
GO:0002064 epithelial cell development
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0030198 extracellular matrix organization
GO:0043065 positive regulation of apoptotic process

Cellular Component:
GO:0005575 cellular_component
GO:0005576 extracellular region
GO:0005614 interstitial matrix
GO:0005788 endoplasmic reticulum lumen

-  Descriptions from all associated GenBank mRNAs
  LF206235 - JP 2014500723-A/13738: Polycomb-Associated Non-Coding RNAs.
AF289612 - Homo sapiens clone pp9445 unknown mRNA.
BC140800 - Homo sapiens ADAMTS-like 4, mRNA (cDNA clone MGC:176477 IMAGE:9021668), complete cds.
BC144581 - Homo sapiens ADAMTS-like 4, mRNA (cDNA clone MGC:178128 IMAGE:9053111), complete cds.
AY358122 - Homo sapiens clone DNA190710 ENWT2803 (UNQ2803) mRNA, complete cds.
BC167841 - Synthetic construct Homo sapiens clone IMAGE:100068231, MGC:195848 ADAMTS-like 4 (ADAMTSL4) mRNA, encodes complete protein.
LF352555 - JP 2014500723-A/160058: Polycomb-Associated Non-Coding RNAs.
LF352554 - JP 2014500723-A/160057: Polycomb-Associated Non-Coding RNAs.
AF370411 - Homo sapiens PP12585 mRNA, complete cds.
BC027478 - Homo sapiens ADAMTS-like 4, mRNA (cDNA clone IMAGE:5001173), partial cds.
JD141089 - Sequence 122113 from Patent EP1572962.
JD281686 - Sequence 262710 from Patent EP1572962.
BC071852 - Homo sapiens ADAMTS-like 4, mRNA (cDNA clone IMAGE:6421309), partial cds.
BC094811 - Homo sapiens ADAMTS-like 4, mRNA (cDNA clone IMAGE:6372909), partial cds.
JD197431 - Sequence 178455 from Patent EP1572962.
AK092509 - Homo sapiens cDNA FLJ35190 fis, clone PLACE6016383, weakly similar to ADAM-TS 1 PRECURSOR (EC 3.4.24.-).
JD479365 - Sequence 460389 from Patent EP1572962.
JD530464 - Sequence 511488 from Patent EP1572962.
AK293037 - Homo sapiens cDNA FLJ78748 complete cds, highly similar to Homo sapiens ADAMTS-like 4, mRNA.
JD322013 - Sequence 303037 from Patent EP1572962.
LF352552 - JP 2014500723-A/160055: Polycomb-Associated Non-Coding RNAs.
JD132153 - Sequence 113177 from Patent EP1572962.
JD387029 - Sequence 368053 from Patent EP1572962.
AF217974 - Homo sapiens clone PP1396 unknown mRNA.
JD118646 - Sequence 99670 from Patent EP1572962.
JD074525 - Sequence 55549 from Patent EP1572962.
JD270903 - Sequence 251927 from Patent EP1572962.
JD383777 - Sequence 364801 from Patent EP1572962.
BX647294 - Homo sapiens mRNA; cDNA DKFZp781I1136 (from clone DKFZp781I1136).
LF352549 - JP 2014500723-A/160052: Polycomb-Associated Non-Coding RNAs.
JD210301 - Sequence 191325 from Patent EP1572962.
AL122085 - Homo sapiens mRNA; cDNA DKFZp434K1772 (from clone DKFZp434K1772); partial cds.
LF352546 - JP 2014500723-A/160049: Polycomb-Associated Non-Coding RNAs.
JD492109 - Sequence 473133 from Patent EP1572962.
JD142210 - Sequence 123234 from Patent EP1572962.
JD325674 - Sequence 306698 from Patent EP1572962.
JD479135 - Sequence 460159 from Patent EP1572962.
JD207429 - Sequence 188453 from Patent EP1572962.
JD227037 - Sequence 208061 from Patent EP1572962.
JD045943 - Sequence 26967 from Patent EP1572962.
JD440566 - Sequence 421590 from Patent EP1572962.
LF352544 - JP 2014500723-A/160047: Polycomb-Associated Non-Coding RNAs.
JD323341 - Sequence 304365 from Patent EP1572962.
JD130869 - Sequence 111893 from Patent EP1572962.
JD260753 - Sequence 241777 from Patent EP1572962.
JD331302 - Sequence 312326 from Patent EP1572962.
JD237098 - Sequence 218122 from Patent EP1572962.
JD427758 - Sequence 408782 from Patent EP1572962.
JD419350 - Sequence 400374 from Patent EP1572962.
JD508594 - Sequence 489618 from Patent EP1572962.
JD544498 - Sequence 525522 from Patent EP1572962.
JD516867 - Sequence 497891 from Patent EP1572962.
LF352540 - JP 2014500723-A/160043: Polycomb-Associated Non-Coding RNAs.
MA588132 - JP 2018138019-A/160058: Polycomb-Associated Non-Coding RNAs.
MA588131 - JP 2018138019-A/160057: Polycomb-Associated Non-Coding RNAs.
MA588129 - JP 2018138019-A/160055: Polycomb-Associated Non-Coding RNAs.
MA588126 - JP 2018138019-A/160052: Polycomb-Associated Non-Coding RNAs.
MA588123 - JP 2018138019-A/160049: Polycomb-Associated Non-Coding RNAs.
MA588121 - JP 2018138019-A/160047: Polycomb-Associated Non-Coding RNAs.
MA588117 - JP 2018138019-A/160043: Polycomb-Associated Non-Coding RNAs.
MA441812 - JP 2018138019-A/13738: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6UY14 (Reactome details) participates in the following event(s):

R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing proteins
R-HSA-5173005 B3GALTL transfers glucose to O-fucosyl-proteins
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ATL4_HUMAN, NM_019032, NP_061905, PP1396, Q5T5F7, Q6IPM6, Q6UY14, Q8N643, Q9HBS6, TSRC1, UNQ2803/PRO34012
UCSC ID: uc001eux.3
RefSeq Accession: NM_019032
Protein: Q6UY14 (aka ATL4_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ADAMTSL4:
adamtsl4-eyes (ADAMTSL4-Related Eye Disorders)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_019032.4
exon count: 19CDS single in 3' UTR: no RNA size: 4209
ORF size: 3225CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6264.00frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.