Human Gene ADAMTSL3 (uc002bjz.4) Description and Page Index
  Description: Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:84,322,838-84,708,593 Size: 385,756 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr15:84,324,514-84,706,558 Size: 382,045 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr15:84,322,838-84,708,593)mRNA (may differ from genome)Protein (1691 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ADAMTS-like protein 3; Short=ADAMTSL-3; AltName: Full=Punctin-2; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis, liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts, cortical and ganglionic neurons and cardiac myocytes. Also expressed by malignant epithelial cells in colon cancer, as well as breast, prostate, renal and skin tumors. Expression is significantly reduced in colon cancer compared to normal colon.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 PLAC domain.
SIMILARITY: Contains 10 TSP type-1 domains.
CAUTION: Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ADAMTSL3
CDC HuGE Published Literature: ADAMTSL3
Positive Disease Associations: Bipolar Disorder , Body Height , height , Myocardial Infarction
Related Studies:
  1. Bipolar Disorder
    , , . [PubMed 0]
  2. Bipolar Disorder
    , , . [PubMed 0]
  3. Body Height
    Michael N Weedon et al. Nature genetics 2008, Genome-wide association analysis identifies 20 loci that influence adult height., Nature genetics. [PubMed 18391952]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.21 RPKM in Artery - Aorta
Total median expression: 101.52 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -104.90224-0.468 Picture PostScript Text
3' UTR -554.142035-0.272 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
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR013273 - Peptidase_M12B_ADAM-TS
IPR010909 - PLAC
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00090 - Thrombospondin type 1 domain
PF07679 - Immunoglobulin I-set domain
PF08686 - PLAC (protease and lacunin) domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
82895 - TSP-1 type 1 repeat

ModBase Predicted Comparative 3D Structure on P82987
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

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

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0005576 extracellular region
GO:0043231 intracellular membrane-bounded organelle

-  Descriptions from all associated GenBank mRNAs
  AF237652 - Homo sapiens a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3 (ADAMTSL3) mRNA, partial cds.
BC128389 - Homo sapiens ADAMTS-like 3, mRNA (cDNA clone MGC:150716 IMAGE:40125494), complete cds.
BC128390 - Homo sapiens ADAMTS-like 3, mRNA (cDNA clone MGC:150717 IMAGE:40125501), complete cds.
AK092324 - Homo sapiens cDNA FLJ35005 fis, clone OCBBF2012001.
AX747482 - Sequence 1007 from Patent EP1308459.
AK308845 - Homo sapiens cDNA, FLJ98886.
AB033059 - Homo sapiens mRNA for KIAA1233 protein, partial cds.
JD218387 - Sequence 199411 from Patent EP1572962.
AL109724 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 417629.
AL109723 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 123430.
JD206026 - Sequence 187050 from Patent EP1572962.

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

Protein P82987 (Reactome details) participates in the following event(s):

R-HSA-5173005 B3GALTL transfers glucose to O-fucosyl-proteins
R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing 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: A1A566, A1A567, ATL3_HUMAN, KIAA1233, NM_207517, NP_997400, P82987, Q9ULI7
UCSC ID: uc002bjz.4
RefSeq Accession: NM_207517
Protein: P82987 (aka ATL3_HUMAN)
CCDS: CCDS10326.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_207517.2
exon count: 30CDS single in 3' UTR: no RNA size: 7336
ORF size: 5076CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10352.00frame shift in genome: no % Coverage: 99.99
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.