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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
  • 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
  • Mint3 3
  • MINT3 4

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. Gene Ontology (GO) annotations related to this gene include enzyme binding and amyloid-beta binding. An important paralog of this gene is APBA1.

UniProtKB/Swiss-Prot for APBA3 Gene

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

Gene Wiki entry for APBA3 Gene

Additional gene information for APBA3 Gene

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

Genomics for APBA3 Gene

GeneHancer (GH) Regulatory Elements for APBA3 Gene

Promoters and enhancers for APBA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 690.6 -0.5 -544 3 ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 MRPL54 APBA3 LOC105372248 GC19M003753 CACTIN-AS1 YJU2 ENSG00000267030 CACTIN ZNF77 DPP9-AS1
GH19J004721 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 53.5 -962.4 -962404 4.5 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZFP41 DPP9 TRV-CAC3-1 TRG-TCC1-1 GC19P004751 LOC105372250 GC19M004737 SAFB APBA3 YJU2 ENSG00000267030
GH19J003363 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 36.8 +394.0 393962 8.1 HDGF SMAD1 ARNT YBX1 ZNF2 YY1 POLR2B ZNF213 ZNF143 ZNF263 NFIC CACTIN-AS1 CACTIN YJU2 ZNF77 APBA3 LMNB2 PIAS4 ENSG00000267139 ZNF555
GH19J004453 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.6 -694.4 -694360 5.1 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 UBXN6 ENSG00000267769 CHAF1A ENSG00000267030 APBA3 CACTIN-AS1 SH3GL1 YJU2 DPP9-AS1 CACTIN
GH19J003183 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.4 +574.2 574156 7.5 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 POLR2B ZNF766 E2F8 ZNF207 NCLN APBA3 SF3A2 CACTIN-AS1 CACTIN ENSG00000267139 ZNF77 ENSG00000268670 ENSG00000267138 ZNF57
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APBA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APBA3 gene promoter:
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • p300
  • NF-1
  • NF-1/L
  • Max1
  • PPAR-gamma2
  • PPAR-gamma1

Genomic Locations for APBA3 Gene

Genomic Locations for APBA3 Gene
chr19:3,750,773-3,761,699
(GRCh38/hg38)
Size:
10,927 bases
Orientation:
Minus strand
chr19:3,750,771-3,761,697
(GRCh37/hg19)
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). Interacts with NECAB3; seems to mediate the interaction between NECAB3 and HIF1AN.

    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

  • Abcam antibodies for APBA3
  • Boster Bio Antibodies for APBA3

No data available for DME Specific Peptides for APBA3 Gene

Domains & Families for APBA3 Gene

Gene Families for APBA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 amyloid-beta 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 amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
genes like me logo Genes that share domains with APBA3: view

Function for APBA3 Gene

Molecular function for APBA3 Gene

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

Phenotypes From GWAS Catalog for APBA3 Gene

Gene Ontology (GO) - Molecular Function for APBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA --
GO:0004857 enzyme inhibitor activity 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

CRISPR Products

miRNA for APBA3 Gene

miRTarBase miRNAs that target APBA3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA3

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005886 plasma membrane IBA --
GO:0043197 dendritic spine IBA --
GO:0045202 synapse IBA --
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:0007268 chemical synaptic transmission IEA --
GO:0010468 regulation of gene expression IEA --
GO:0015031 protein transport IEA --
GO:0023051 regulation of signaling IBA --
genes like me logo Genes that share ontologies with APBA3: view

No data available for SIGNOR curated interactions for APBA3 Gene

Drugs & Compounds for APBA3 Gene

No Compound Related Data Available

Transcripts for APBA3 Gene

mRNA/cDNA for APBA3 Gene

Unigene Clusters for APBA3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA3

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for APBA3 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with APBA3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APBA3 34 33
  • 85.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APBA3 34 33
  • 84.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apba3 16 34 33
  • 76.77 (n)
rat
(Rattus norvegicus)
Mammalia Apba3 33
  • 76.1 (n)
oppossum
(Monodelphis domestica)
Mammalia APBA3 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA3 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBA3 34 33
  • 67.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA3 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba3 33
  • 57.11 (n)
Str.16113 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10667 33
zebrafish
(Danio rerio)
Actinopterygii APBA3 34
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta X11L 34
  • 20 (a)
ManyToMany
X11Lbeta 34
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 34 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APBA3: view image

Paralogs for APBA3 Gene

Paralogs for APBA3 Gene

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

  • APBA3_HUMAN
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 Variation AA Info Type
rs1000134597 -- 3,754,153(-) C/T intron_variant
rs1000593399 -- 3,756,613(-) C/T intron_variant
rs1000868488 -- 3,758,457(-) G/A intron_variant
rs1001249521 -- 3,753,389(-) T/C intron_variant
rs1001301924 -- 3,753,642(-) T/C intron_variant

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

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

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)

Additional Variant Information for APBA3 Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search APBA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APBA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 the X11 protein family, interacts with Alzheimer's beta-amyloid precursor protein. (PMID: 10049767) Tanahashi H … Tabira T (Biochemical and biophysical research communications 1999) 2 3 4 58
  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 58
  3. NECAB3 Promotes Activation of Hypoxia-inducible factor-1 during Normoxia and Enhances Tumourigenicity of Cancer Cells. (PMID: 26948053) Nakaoka HJ … Sakamoto T (Scientific reports 2016) 3 4 58
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  5. 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 (The Journal of biological chemistry 2009) 3 4 58

Products for APBA3 Gene

Sources for APBA3 Gene

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