Human Gene AGBL3 (uc011kpw.2) Description and Page Index
  Description: Homo sapiens ATP/GTP binding protein-like 3 (AGBL3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr7:134,671,259-134,820,530 Size: 149,272 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr7:134,672,685-134,820,013 Size: 147,329 Coding Exon Count: 16 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:134,671,259-134,820,530)mRNA (may differ from genome)Protein (920 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCEUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AGBL3
CDC HuGE Published Literature: AGBL3
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Varicose Veins
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    Eric Mick et al. Journal of the American Academy of Child and Adolescent Psychiatry 2011, Genome-wide association study of the child behavior checklist dysregulation profile., Journal of the American Academy of Child and Adolescent Psychiatry. [PubMed 21784300]
    We found suggestive evidence for developmentally expressed genes operant in hippocampal dependent memory and learning with the CBCL-DP.
  2. Varicose Veins
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: AGBL3
Diseases sorted by gene-association score: dyskinesia of esophagus (5)

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

+  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: 4.44 RPKM in Testis
Total median expression: 16.49 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 -94.70253-0.374 Picture PostScript Text
3' UTR -96.72517-0.187 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
  Pfam Domains:
PF00246 - Zinc carboxypeptidase

SCOP Domains:
53187 - Zn-dependent exopeptidases

ModBase Predicted Comparative 3D Structure on Q8NEM8-4
FrontTopSide
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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK302827 - Homo sapiens cDNA FLJ61668 complete cds, highly similar to Mus musculus ATP/GTP binding protein-like 3 (Agbl3), mRNA.
BC030651 - Homo sapiens ATP/GTP binding protein-like 3, mRNA (cDNA clone MGC:32955 IMAGE:5267615), complete cds.
AL832281 - Homo sapiens mRNA; cDNA DKFZp667G0318 (from clone DKFZp667G0318).
AK023045 - Homo sapiens cDNA FLJ12983 fis, clone NT2RP3000002.
AK311252 - Homo sapiens cDNA, FLJ18294.
JD305021 - Sequence 286045 from Patent EP1572962.
KJ904203 - Synthetic construct Homo sapiens clone ccsbBroadEn_13597 AGBL3 gene, encodes complete protein.
AK021841 - Homo sapiens cDNA FLJ11779 fis, clone HEMBA1005921.
JD109486 - Sequence 90510 from Patent EP1572962.

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

Protein Q8NEM8 (Reactome details) participates in the following event(s):

R-HSA-8866105 CCPs deglutamylate tubulin
R-HSA-8955332 Carboxyterminal post-translational modifications of tubulin
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: CCP3, NM_178563, NP_848658, Q8NEM8-4
UCSC ID: uc011kpw.2
RefSeq Accession: NM_178563
Protein: Q8NEM8-4, splice isoform of Q8NEM8 CCDS: CCDS47718.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_178563.3
exon count: 17CDS single in 3' UTR: no RNA size: 3542
ORF size: 2763CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5696.00frame shift in genome: no % Coverage: 99.75
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.