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Aliases for APBA3 Gene

Aliases for APBA3 Gene

  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 3 2 3
  • Mint3 3 4 6
  • X11L2 3 4 6
  • Neuronal Munc18-1-Interacting Protein 3 3 4
  • Neuron-Specific X11L2 Protein 3 4
  • Adapter Protein X11gamma 3 4
  • Mint-3 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 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 (A4) Precursor Protein-Binding, Family A, Member 3) is a Protein Coding gene. Diseases associated with APBA3 include melanotic neuroectodermal tumor. GO annotations related to this gene include enzyme binding and beta-amyloid binding. An important paralog of this gene is APBA2.

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

Genomic Location for APBA3 Gene

Start:
3,750,771 bp from pter
End:
3,761,699 bp from pter
Size:
10,929 bases
Orientation:
Minus strand

Genomic View for APBA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for APBA3 Gene at MOPED

Post-translational modifications for APBA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APBA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APBA3 Gene

Domains for APBA3 Gene

Protein Domains for APBA3 Gene

Suggested Antigen Peptide Sequences for APBA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O96018

UniProtKB/Swiss-Prot:

APBA3_HUMAN :
  • O96018
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

No data available for Gene Families for APBA3 Gene

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 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:

miRNA for APBA3 Gene

miRTarBase miRNAs that target APBA3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for APBA3 Gene COMPARTMENTS Subcellular localization image for APBA3 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for APBA3 Gene

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

Pathways for APBA3 Gene

SuperPathways for APBA3 Gene

No Data Available

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 synaptic transmission IEA --
GO:0010468 regulation of gene expression IEA --
GO:0015031 protein transport IEA --
GO:0043086 negative regulation of catalytic activity IDA 19726677
genes like me logo Genes that share ontologies with APBA3: view

No data available for Pathways by source for APBA3 Gene

Transcripts for APBA3 Gene

Unigene Clusters for APBA3 Gene

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

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 for APBA3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APBA3 Gene

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 expressions with APBA3: view

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 35
  • 99.07 (n)
  • 98.43 (a)
APBA3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APBA3 35
  • 84.17 (n)
  • 83.48 (a)
APBA3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APBA3 35
  • 85.86 (n)
  • 87.48 (a)
APBA3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apba3 35
  • 76.77 (n)
  • 76.71 (a)
Apba3 16
Apba3 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBA3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA3 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apba3 35
  • 76.1 (n)
  • 74.87 (a)
chicken
(Gallus gallus)
Aves APBA3 35
  • 67.68 (n)
  • 64.31 (a)
APBA3 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA3 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10667 35
tropical clawed frog
(Silurana tropicalis)
Amphibia apba3 35
  • 57.11 (n)
  • 56.63 (a)
Str.16113 35
zebrafish
(Danio rerio)
Actinopterygii APBA3 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta X11L 36
  • 20 (a)
ManyToMany
X11Lbeta 36
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 36
  • 22 (a)
OneToMany
lin-10 37
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for APBA3:
  • 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

Selected 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 MAF
rs764036 -- 3,755,268(+) TAGAA(A/T)CTTAT intron-variant
rs2240814 -- 3,755,048(+) CCATC(A/T)ATCTA intron-variant
rs2368926 -- 3,755,964(-) CTTAG(G/T)GGTGT intron-variant
rs2368927 -- 3,755,848(-) GAATT(C/G)TAGAA intron-variant
rs2368928 -- 3,755,837(-) CCATG(A/G)GAGTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv910722 CNV Loss 21882294
dgv3651n71 CNV Loss 21882294
nsv470114 CNV Loss 18288195
dgv3660n71 CNV Loss 21882294
dgv3662n71 CNV Loss 21882294
nsv509718 CNV Insertion 20534489
nsv910768 CNV Loss 21882294
nsv910770 CNV Loss 21882294
dgv3663n71 CNV Loss 21882294
nsv910773 CNV Loss 21882294
nsv910775 CNV Loss 21882294

Relevant External Links for APBA3 Gene

HapMap Linkage Disequilibrium report
APBA3

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

Disorders for APBA3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for APBA3 Gene including...

Search for APBA3 Gene in MalaCards »

(1) University of Copenhagen DISEASES for APBA3 Gene

Relevant External Links for APBA3

Genetic Association Database (GAD)
APBA3
Human Genome Epidemiology (HuGE) Navigator
APBA3
genes like me logo Genes that share disorders with APBA3: view

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

Publications for APBA3 Gene

  1. 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 23
  2. 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
  3. Mint3/X11gamma is an ADP-ribosylation factor-dependent adaptor that regulates the traffic of the Alzheimer's Precursor protein from the trans-Golgi network. (PMID: 17959829) Shrivastava-Ranjan P. … Kahn R.A. (Mol. Biol. Cell 2008) 3 23
  4. Interaction of Mint3 with Furin regulates the localization of Furin in the trans-Golgi network. (PMID: 18544638) Han J. … Chi C. (J. Cell. Sci. 2008) 3 23
  5. Novel mediators of amyloid precursor protein signaling. (PMID: 20016085) Swistowski A. … Bredesen D.E. (J. Neurosci. 2009) 3 23

Products for APBA3 Gene

Sources for APBA3 Gene

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