Human Gene APBB3 (uc003lgc.1)
  Description: Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 4, mRNA.
RefSeq Summary (NM_006051): The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr5:139,937,853-139,943,960 Size: 6,108 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr5:139,938,170-139,941,249 Size: 3,080 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:139,937,853-139,943,960)mRNA (may differ from genome)Protein (263 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIneXtProtPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: APBB3_HUMAN
DESCRIPTION: RecName: Full=Amyloid beta A4 precursor protein-binding family B member 3; AltName: Full=Protein Fe65-like 2; Short=Fe65L2;
FUNCTION: May modulate the internalization of beta-amyloid precursor protein.
SUBUNIT: Binds to the intracellular domain of the beta-amyloid precursor protein. Also binds to APP-like proteins.
TISSUE SPECIFICITY: Expressed in various tissues.
SIMILARITY: Contains 2 PID domains.
SIMILARITY: Contains 1 WW domain.

-  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): APBB3
CDC HuGE Published Literature: APBB3
Positive Disease Associations: Alzheimer's Disease
Related Studies:
  1. Alzheimer's Disease
    Tanahashi H et al. 2002, c954C-->T polymorphism in the Fe65L2 gene is associated with early-onset Alzheimer's disease., Annals of neurology. 2002 Nov;52(5):691-3. [PubMed 12402277]

-  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: 29.54 RPKM in Testis
Total median expression: 626.85 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 -644.311472-0.438 Picture PostScript Text
3' UTR -88.19317-0.278 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
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00640 - Phosphotyrosine interaction domain (PTB/PID)

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DYQ - X-ray MuPIT 2YSC - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O95704
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0005515 protein binding
GO:0008134 transcription factor binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK054960 - Homo sapiens cDNA FLJ30398 fis, clone BRACE2008402, highly similar to Steroid receptor RNA activator 1.
AK074885 - Homo sapiens cDNA FLJ90404 fis, clone NT2RP2006092, highly similar to Amyloid beta A4 precursor protein-binding family B member 3 (Fe65-like protein 2) (Fe65L2).
BC013158 - Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3, mRNA (cDNA clone MGC:9100 IMAGE:3870148), complete cds.
AB018247 - Homo sapiens mRNA for Fe65L2, complete cds.
AB049618 - Homo sapiens mRNA for Fe65L2 isoform 214 (I-214), complete cds.
AB209839 - Homo sapiens mRNA for amyloid beta precursor protein-binding, family B, member 3 isoform b variant protein.
AK075280 - Homo sapiens cDNA FLJ90799 fis, clone Y79AA1000030, highly similar to Amyloid beta A4 precursor protein-binding family B member 3 (Fe65-like protein 2) (Fe65L2).
AK125244 - Homo sapiens cDNA FLJ43254 fis, clone HEART2008108, highly similar to Amyloid beta A4 precursor protein-binding family B member 3 (Fe65-like protein 2) (Fe65L2).
AF224708 - Homo sapiens amyloid precursor interacting protein type III (FE65L2) mRNA, complete cds, alternatively spliced.
AF224709 - Homo sapiens amyloid precursor interacting protein type II (FE65L2) mRNA, complete cds, alternatively spliced.
AF224710 - Homo sapiens amyloid precursor interacting protein type I (FE65L2) mRNA, complete cds, alternatively spliced.
AF224711 - Homo sapiens amyloid precursor interacting protein type IV (FE65L2) mRNA, complete cds, alternatively spliced.
JD306526 - Sequence 287550 from Patent EP1572962.
JD095180 - Sequence 76204 from Patent EP1572962.
JD561803 - Sequence 542827 from Patent EP1572962.
JD478838 - Sequence 459862 from Patent EP1572962.
JD543453 - Sequence 524477 from Patent EP1572962.
BC125187 - Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3, mRNA (cDNA clone MGC:150555 IMAGE:40122344), complete cds.
AK304824 - Homo sapiens cDNA FLJ53286 complete cds, highly similar to Amyloid beta A4 precursor protein-binding family B member 3 (Fe65-like protein 2) (Fe65L2).
JD093626 - Sequence 74650 from Patent EP1572962.
JD071409 - Sequence 52433 from Patent EP1572962.
JD412459 - Sequence 393483 from Patent EP1572962.
JD130001 - Sequence 111025 from Patent EP1572962.
JD126316 - Sequence 107340 from Patent EP1572962.
AB061224 - Homo sapiens mRNA for Fe65L2 isoform 245, complete cds.
AB094990 - Homo sapiens Fe65L2 isoform 484 mRNA for Alzheimer's beta-amyloid precursor interaction protein, complete cds.
KJ901059 - Synthetic construct Homo sapiens clone ccsbBroadEn_10453 APBB3 gene, encodes complete protein.
KJ892999 - Synthetic construct Homo sapiens clone ccsbBroadEn_02393 APBB3 gene, encodes complete protein.
KR711939 - Synthetic construct Homo sapiens clone CCSBHm_00032492 APBB3 (APBB3) mRNA, encodes complete protein.
AB385104 - Synthetic construct DNA, clone: pF1KB5479, Homo sapiens APBB3 gene for amyloid beta A4 precursor protein-binding family B member 3, complete cds, without stop codon, in Flexi system.
JD163872 - Sequence 144896 from Patent EP1572962.
JD253348 - Sequence 234372 from Patent EP1572962.
JD183567 - Sequence 164591 from Patent EP1572962.
JD194000 - Sequence 175024 from Patent EP1572962.
JD074421 - Sequence 55445 from Patent EP1572962.
JD193362 - Sequence 174386 from Patent EP1572962.
JD259443 - Sequence 240467 from Patent EP1572962.
JD291094 - Sequence 272118 from Patent EP1572962.
JD167539 - Sequence 148563 from Patent EP1572962.
JD404033 - Sequence 385057 from Patent EP1572962.
AB079687 - Homo sapiens APBB3 mRNA for Fe65L2 isoform 339, complete cds.
JD129382 - Sequence 110406 from Patent EP1572962.
JD515064 - Sequence 496088 from Patent EP1572962.
JD361969 - Sequence 342993 from Patent EP1572962.
JD491024 - Sequence 472048 from Patent EP1572962.
JD043244 - Sequence 24268 from Patent EP1572962.
CU680534 - Synthetic construct Homo sapiens gateway clone IMAGE:100019627 5' read APBB3 mRNA.
JD345459 - Sequence 326483 from Patent EP1572962.
JD282707 - Sequence 263731 from Patent EP1572962.
JD561592 - Sequence 542616 from Patent EP1572962.
JD527902 - Sequence 508926 from Patent EP1572962.
JD342048 - Sequence 323072 from Patent EP1572962.
JD342046 - Sequence 323070 from Patent EP1572962.
JD445247 - Sequence 426271 from Patent EP1572962.
JD234728 - Sequence 215752 from Patent EP1572962.
JD163662 - Sequence 144686 from Patent EP1572962.
JD273466 - Sequence 254490 from Patent EP1572962.
AK307170 - Homo sapiens cDNA, FLJ97118.
JD538220 - Sequence 519244 from Patent EP1572962.
JD230872 - Sequence 211896 from Patent EP1572962.
JD081429 - Sequence 62453 from Patent EP1572962.
JD186260 - Sequence 167284 from Patent EP1572962.
JD389789 - Sequence 370813 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK125244, APBB3_HUMAN, B3KQN9, FE65L2, O95704, Q08AG4, Q9NYX6, Q9NYX7, Q9NYX8
UCSC ID: uc003lgc.1
RefSeq Accession: NM_006051
Protein: O95704 (aka APBB3_HUMAN or ABB3_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK125244.1
exon count: 10CDS single in 3' UTR: no RNA size: 2789
ORF size: 792CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 694.00frame shift in genome: no % Coverage: 92.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 460# 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.