Human Gene DLGAP3 (uc001byc.3)
  Description: Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:35,331,037-35,370,984 Size: 39,948 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr1:35,331,684-35,370,984 Size: 39,301 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:35,331,037-35,370,984)mRNA (may differ from genome)Protein (979 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DLGP3_HUMAN
DESCRIPTION: RecName: Full=Disks large-associated protein 3; Short=DAP-3; AltName: Full=PSD-95/SAP90-binding protein 3; AltName: Full=SAP90/PSD-95-associated protein 3; Short=SAPAP3;
FUNCTION: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
SUBUNIT: Interacts with DLG4/PSD-95 (By similarity).
INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1752541, EBI-389883;
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density of neuronal cells (By similarity).
SIMILARITY: Belongs to the SAPAP family.
SEQUENCE CAUTION: Sequence=AAD20042.1; Type=Frameshift; Positions=833;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DLGAP3
CDC HuGE Published Literature: DLGAP3
Positive Disease Associations: Iron
Related Studies:
  1. Iron
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DLGAP3
Diseases sorted by gene-association score: trichotillomania (18), telogen effluvium (11), follicular mucinosis (9), impulse control disorder (8), tinea capitis (7), obsessive-compulsive disorder (6)

-  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: 29.53 RPKM in Brain - Cortex
Total median expression: 259.44 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
3' UTR -294.63647-0.455 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
IPR005026 - GKAP

Pfam Domains:
PF03359 - Guanylate-kinase-associated protein (GKAP) protein

ModBase Predicted Comparative 3D Structure on O95886
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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:0001540 beta-amyloid binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0023052 signaling

Cellular Component:
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  LF206625 - JP 2014500723-A/14128: Polycomb-Associated Non-Coding RNAs.
MA442202 - JP 2018138019-A/14128: Polycomb-Associated Non-Coding RNAs.
AF131778 - Homo sapiens clone 24861 DAP-1 alpha mRNA sequence, partial cds.
LF385426 - JP 2014500723-A/192929: Polycomb-Associated Non-Coding RNAs.
JD111533 - Sequence 92557 from Patent EP1572962.
JD336201 - Sequence 317225 from Patent EP1572962.
JD386016 - Sequence 367040 from Patent EP1572962.
JD251460 - Sequence 232484 from Patent EP1572962.
AK294907 - Homo sapiens cDNA FLJ59589 complete cds, highly similar to Disks large-associated protein 3.
JD149844 - Sequence 130868 from Patent EP1572962.
JD241606 - Sequence 222630 from Patent EP1572962.
JD415866 - Sequence 396890 from Patent EP1572962.
JD322018 - Sequence 303042 from Patent EP1572962.
JD547133 - Sequence 528157 from Patent EP1572962.
JD520208 - Sequence 501232 from Patent EP1572962.
JD274060 - Sequence 255084 from Patent EP1572962.
BC114370 - Homo sapiens discs, large (Drosophila) homolog-associated protein 3, mRNA (cDNA clone IMAGE:40078040), partial cds.
JD142296 - Sequence 123320 from Patent EP1572962.
JD192008 - Sequence 173032 from Patent EP1572962.
AB527430 - Synthetic construct DNA, clone: pF1KB9259, Homo sapiens DLGAP3 gene for discs, large (Drosophila) homolog-associated protein 3, without stop codon, in Flexi system.
LF356699 - JP 2014500723-A/164202: Polycomb-Associated Non-Coding RNAs.
LF356693 - JP 2014500723-A/164196: Polycomb-Associated Non-Coding RNAs.
JD139014 - Sequence 120038 from Patent EP1572962.
JD128683 - Sequence 109707 from Patent EP1572962.
JD173314 - Sequence 154338 from Patent EP1572962.
JD203563 - Sequence 184587 from Patent EP1572962.
JD488793 - Sequence 469817 from Patent EP1572962.
JD538261 - Sequence 519285 from Patent EP1572962.
LF356691 - JP 2014500723-A/164194: Polycomb-Associated Non-Coding RNAs.
JD268095 - Sequence 249119 from Patent EP1572962.
BC114369 - Homo sapiens discs, large (Drosophila) homolog-associated protein 3, mRNA (cDNA clone IMAGE:40078036), partial cds.
JD486922 - Sequence 467946 from Patent EP1572962.
JD134644 - Sequence 115668 from Patent EP1572962.
JD394384 - Sequence 375408 from Patent EP1572962.
JD044950 - Sequence 25974 from Patent EP1572962.
JD108124 - Sequence 89148 from Patent EP1572962.
JD046618 - Sequence 27642 from Patent EP1572962.
JD075324 - Sequence 56348 from Patent EP1572962.
JD057640 - Sequence 38664 from Patent EP1572962.
JD474015 - Sequence 455039 from Patent EP1572962.
JD125241 - Sequence 106265 from Patent EP1572962.
JD115428 - Sequence 96452 from Patent EP1572962.
JD385745 - Sequence 366769 from Patent EP1572962.
JD364247 - Sequence 345271 from Patent EP1572962.
JD110951 - Sequence 91975 from Patent EP1572962.
JD142297 - Sequence 123321 from Patent EP1572962.
JD214497 - Sequence 195521 from Patent EP1572962.
JD173907 - Sequence 154931 from Patent EP1572962.
JD474138 - Sequence 455162 from Patent EP1572962.
JD270661 - Sequence 251685 from Patent EP1572962.
MA621003 - JP 2018138019-A/192929: Polycomb-Associated Non-Coding RNAs.
MA592276 - JP 2018138019-A/164202: Polycomb-Associated Non-Coding RNAs.
MA592270 - JP 2018138019-A/164196: Polycomb-Associated Non-Coding RNAs.
MA592268 - JP 2018138019-A/164194: Polycomb-Associated Non-Coding RNAs.

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

Protein O95886 (Reactome details) participates in the following event(s):

R-HSA-6794338 GKAPs bind PSD-95 members
R-HSA-6794357 SHANK proteins bind GKAPs
R-HSA-6794344 HOMER binds SHANK proteins
R-HSA-6797554 ABP1 binds SHANK proteins
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: DAP3, DLGP3_HUMAN, NM_001080418, NP_001073887, O95886, Q5TDD5, Q9H3X7
UCSC ID: uc001byc.3
RefSeq Accession: NM_001080418
Protein: O95886 (aka DLGP3_HUMAN)
CCDS: CCDS30670.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001080418.1
exon count: 10CDS single in 3' UTR: no RNA size: 3587
ORF size: 2940CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5164.00frame shift in genome: no % Coverage: 100.00
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.