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Aliases for APBA3 Gene

Aliases for APBA3 Gene

  • Amyloid Beta Precursor Protein Binding Family A Member 3 2 3 5
  • Neuronal Munc18-1-Interacting Protein 3 3 4
  • Neuron-Specific X11L2 Protein 3 4
  • Adapter Protein X11gamma 3 4
  • Mint-3 3 4
  • Mint3 3 4
  • X11L2 3 4
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 3 (X11-Like 2) 3
  • Phosphotyrosine-Binding/-Interacting Domain (PTB)-Bearing Protein 3
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 3 2
  • Amyloid Beta A4 Precursor Protein-Binding Family A Member 3 3
  • X11-Like 2 Protein 3
  • X11-Like 2 2
  • MGC:15815 3

External Ids for APBA3 Gene

Previous GeneCards Identifiers for APBA3 Gene

  • GC19M003843
  • GC19M003690
  • GC19M003701
  • GC19M003515

Summaries for APBA3 Gene

Entrez Gene Summary for APBA3 Gene

  • The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for APBA3 Gene

APBA3 (Amyloid Beta Precursor Protein Binding Family A Member 3) is a Protein Coding gene. Diseases associated with APBA3 include Alzheimer Disease. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. GO annotations related to this gene include enzyme binding and beta-amyloid binding. An important paralog of this gene is APBA1.

UniProtKB/Swiss-Prot for APBA3 Gene

  • May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.

Gene Wiki entry for APBA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBA3 Gene

Genomics for APBA3 Gene

Regulatory Elements for APBA3 Gene


Enhancers around APBA3 on UCSC Golden Path with GeneCards custom track

Promoters for APBA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042528 -301 2801 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D

Genomic Location for APBA3 Gene

Chromosome:
19
Start:
3,750,773 bp from pter
End:
3,761,699 bp from pter
Size:
10,927 bases
Orientation:
Minus strand

Genomic View for APBA3 Gene

Genes around APBA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBA3 Gene

Proteins for APBA3 Gene

  • Protein details for APBA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96018-APBA3_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family A member 3
    Protein Accession:
    O96018
    Secondary Accessions:
    • O60483
    • Q9UPZ2

    Protein attributes for APBA3 Gene

    Size:
    575 amino acids
    Molecular mass:
    61454 Da
    Quaternary structure:
    • Binds to the cytoplasmic domain of amyloid protein (APP) in vivo. Interacts with HIF1AN (via N-terminus).

    Three dimensional structures from OCA and Proteopedia for APBA3 Gene

neXtProt entry for APBA3 Gene

Post-translational modifications for APBA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APBA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for APBA3 Gene

Domains & Families for APBA3 Gene

Gene Families for APBA3 Gene

Protein Domains for APBA3 Gene

Suggested Antigen Peptide Sequences for APBA3 Gene

Graphical View of Domain Structure for InterPro Entry

O96018

UniProtKB/Swiss-Prot:

APBA3_HUMAN :
  • Composed of an N-terminal domain, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
Domain:
  • Composed of an N-terminal domain, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
  • Contains 2 PDZ (DHR) domains.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with APBA3: view

Function for APBA3 Gene

Molecular function for APBA3 Gene

GENATLAS Biochemistry:
amyloid beta (A4) precursor protein binding,family A,member 3 (X11-like 2),expressed in various tissues
UniProtKB/Swiss-Prot Function:
May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.

Gene Ontology (GO) - Molecular Function for APBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0004857 enzyme inhibitor activity IEA,IDA 19726677
GO:0005515 protein binding IPI 10049767
GO:0019899 enzyme binding IPI 19726677
genes like me logo Genes that share ontologies with APBA3: view
genes like me logo Genes that share phenotypes with APBA3: view

Animal Models for APBA3 Gene

MGI Knock Outs for APBA3:

Animal Model Products

miRNA for APBA3 Gene

miRTarBase miRNAs that target APBA3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APBA3 Gene

Localization for APBA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBA3 Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APBA3 gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 2
plasma membrane 1
extracellular 1
endosome 1

Gene Ontology (GO) - Cellular Components for APBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IEA,IDA 19726677
genes like me logo Genes that share ontologies with APBA3: view

Pathways & Interactions for APBA3 Gene

genes like me logo Genes that share pathways with APBA3: view

Pathways by source for APBA3 Gene

Gene Ontology (GO) - Biological Process for APBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006810 transport IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0010468 regulation of gene expression IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with APBA3: view

No data available for SIGNOR curated interactions for APBA3 Gene

Transcripts for APBA3 Gene

Unigene Clusters for APBA3 Gene

Amyloid beta (A4) precursor protein-binding, family A, member 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APBA3 Gene

No ASD Table

Relevant External Links for APBA3 Gene

GeneLoc Exon Structure for
APBA3
ECgene alternative splicing isoforms for
APBA3

Expression for APBA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APBA3 Gene

Protein differential expression in normal tissues from HIPED for APBA3 Gene

This gene is overexpressed in Blymphocyte (15.7), Platelet (14.6), CD8 Tcells (12.6), Placenta (9.2), and CD4 Tcells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APBA3 Gene



Protein tissue co-expression partners for APBA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APBA3 Gene:

APBA3

SOURCE GeneReport for Unigene cluster for APBA3 Gene:

Hs.465607

mRNA Expression by UniProt/SwissProt for APBA3 Gene:

O96018-APBA3_HUMAN
Tissue specificity: Expressed in all tissues examined with lower levels in brain and testis.
genes like me logo Genes that share expression patterns with APBA3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for APBA3 Gene

Orthologs for APBA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBA3 34 35
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia APBA3 34 35
  • 85.86 (n)
cow
(Bos Taurus)
Mammalia APBA3 34 35
  • 84.17 (n)
mouse
(Mus musculus)
Mammalia Apba3 34 16 35
  • 76.77 (n)
rat
(Rattus norvegicus)
Mammalia Apba3 34
  • 76.1 (n)
oppossum
(Monodelphis domestica)
Mammalia APBA3 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA3 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBA3 34 35
  • 67.68 (n)
lizard
(Anolis carolinensis)
Reptilia APBA3 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba3 34
  • 57.11 (n)
Str.16113 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10667 34
zebrafish
(Danio rerio)
Actinopterygii APBA3 35
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta X11L 35
  • 20 (a)
ManyToMany
X11Lbeta 35
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 36 35
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for APBA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APBA3 Gene

ENSEMBL:
Gene Tree for APBA3 (if available)
TreeFam:
Gene Tree for APBA3 (if available)

Paralogs for APBA3 Gene

Paralogs for APBA3 Gene

(3) SIMAP similar genes for APBA3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with APBA3: view

Variants for APBA3 Gene

Sequence variations from dbSNP and Humsavar for APBA3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10411927 -- 3,753,154(+) CAGCC(A/G)CATCT intron-variant
rs10412366 -- 3,753,327(+) TTTCG(C/G)GGAGT intron-variant
rs10414283 -- 3,753,150(+) GAGAC(A/C)GCCGC intron-variant
rs10414735 -- 3,753,330(+) CGGGG(A/T)GTCGG intron-variant
rs10421047 -- 3,754,982(+) ATTTC(A/G)AAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APBA3 Gene

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv509718 CNV insertion 20534489

Variation tolerance for APBA3 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APBA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBA3 Gene

Disorders for APBA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APBA3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search APBA3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APBA3

Genetic Association Database (GAD)
APBA3
Human Genome Epidemiology (HuGE) Navigator
APBA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBA3
genes like me logo Genes that share disorders with APBA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBA3 Gene

Publications for APBA3 Gene

  1. X11L2, a new member of X11 protein family interacts with Alzheimer's beta-amyloid precursor protein. (PMID: 10049767) Tanahashi H. … Tabira T. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 64
  2. Genomic organization of the human X11L2 gene (APBA3), a third member of the X11 protein family interacting with Alzheimer's beta-amyloid precursor protein. (PMID: 10574372) Tanahashi H. … Tabira T. (NeuroReport 1999) 3 4 22 64
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  4. Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1. (PMID: 19726677) Sakamoto T. … Seiki M. (J. Biol. Chem. 2009) 3 4 64
  5. Novel mediators of amyloid precursor protein signaling. (PMID: 20016085) Swistowski A. … Bredesen D.E. (J. Neurosci. 2009) 3 22 64

Products for APBA3 Gene

Sources for APBA3 Gene

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