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Aliases for APBB3 Gene

Aliases for APBB3 Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 3 2 3 5
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 3 2 3
  • Protein Fe65-Like 2 3 4
  • FE65L2 3 4
  • Amyloid Beta A4 Precursor Protein-Binding Family B Member 3 3
  • Amyloid Precursor Interacting Protein 3
  • FE65-Like Protein 2 3
  • SRA 3

External Ids for APBB3 Gene

Previous GeneCards Identifiers for APBB3 Gene

  • GC05M140520
  • GC05M139913
  • GC05M139959
  • GC05M139960
  • GC05M139910
  • GC05M139918
  • GC05M135084
  • GC05M139937

Summaries for APBB3 Gene

Entrez Gene Summary for APBB3 Gene

  • 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]

GeneCards Summary for APBB3 Gene

APBB3 (Amyloid Beta Precursor Protein Binding Family B Member 3) is a Protein Coding gene. Diseases associated with APBB3 include Alzheimer Disease. GO annotations related to this gene include transcription factor binding and beta-amyloid binding. An important paralog of this gene is APBB2.

UniProtKB/Swiss-Prot for APBB3 Gene

  • May modulate the internalization of beta-amyloid precursor protein.

Gene Wiki entry for APBB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBB3 Gene

Genomics for APBB3 Gene

Regulatory Elements for APBB3 Gene

Enhancers for APBB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F140608 1.6 FANTOM5 Ensembl ENCODE 36.7 -46.2 -46220 4.4 PKNOX1 ARNT CBX5 GATA2 NCOA1 MEF2D SMARCA4 PBX2 MYNN NBN CD14 APBB3 TMCO6 SLC35A4 IK EIF4EBP3 ANKHD1 MIR6831 MIR3655 NDUFA2
GH05F140601 1.4 FANTOM5 Ensembl ENCODE 32 -37.8 -37815 2.0 HDAC1 MLX SIN3A YY1 EGR2 THAP11 ZNF263 USF2 CEBPB ZNF589 APBB3 CD14 TMCO6 SRA1 SLC35A4 MIR6831 MIR3655 IK NDUFA2 EIF4EBP3
GH05F140588 1.6 FANTOM5 Ensembl ENCODE 27.8 -25.6 -25620 4.4 HDGF CREB3L1 ZFP64 ARID4B SIN3A ZNF2 ZNF48 ZNF143 DEK ZNF263 TMCO6 APBB3 CD14 EIF4EBP3 PCDHB19P LINC01024 PCDHB17P SLC35A4 PCDHA2 LOC101929719
GH05F140250 1.7 FANTOM5 Ensembl ENCODE 21.4 +312.3 312262 4.6 HDGF ATF1 PKNOX1 ARID4B SIN3A ZNF2 ZNF143 ZNF207 FOS DEK PFDN1 APBB3 CD14 HBEGF SRA1 ANKHD1 SLC35A4 EIF4EBP3 IK PIR37389
GH05F140606 1.3 FANTOM5 Ensembl 26.5 -42.3 -42253 0.9 ELF3 ARID4B ZSCAN9 RAD21 RARA YY1 SLC30A9 CREM MIXL1 THAP11 APBB3 SRA1 CD14 SLC35A4 MIR6831 EIF4EBP3 MIR3655 NDUFA2 IK HBEGF
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APBB3 on UCSC Golden Path with GeneCards custom track

Promoters for APBB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001291848 -119 1801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF207

Genomic Location for APBB3 Gene

Chromosome:
5
Start:
140,558,268 bp from pter
End:
140,564,781 bp from pter
Size:
6,514 bases
Orientation:
Minus strand

Genomic View for APBB3 Gene

Genes around APBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBB3 Gene

Proteins for APBB3 Gene

  • Protein details for APBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95704-APBB3_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family B member 3
    Protein Accession:
    O95704
    Secondary Accessions:
    • B3KQN9
    • Q08AG4
    • Q96Q18
    • Q9BYD4
    • Q9NYX6
    • Q9NYX7
    • Q9NYX8

    Protein attributes for APBB3 Gene

    Size:
    486 amino acids
    Molecular mass:
    52585 Da
    Quaternary structure:
    • Binds to the intracellular domain of the beta-amyloid precursor protein. Also binds to APP-like proteins.
    • Binds to the intracellular domain of the beta-amyloid precursor protein. Also binds to APP-like proteins.

    Three dimensional structures from OCA and Proteopedia for APBB3 Gene

    Alternative splice isoforms for APBB3 Gene

neXtProt entry for APBB3 Gene

Post-translational modifications for APBB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APBB3 Gene

Domains & Families for APBB3 Gene

Protein Domains for APBB3 Gene

Graphical View of Domain Structure for InterPro Entry

O95704

UniProtKB/Swiss-Prot:

APBB3_HUMAN :
  • Contains 2 PID domains.
Domain:
  • Contains 2 PID domains.
  • Contains 1 WW domain.
genes like me logo Genes that share domains with APBB3: view

No data available for Gene Families for APBB3 Gene

Function for APBB3 Gene

Molecular function for APBB3 Gene

GENATLAS Biochemistry:
amyloid beta (A4) precursor protein binding B3,murine homolog,FE65 like gene,interacting with Alzheimers beta amyloid precursor protein
UniProtKB/Swiss-Prot Function:
May modulate the internalization of beta-amyloid precursor protein.

Gene Ontology (GO) - Molecular Function for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IBA --
GO:0005515 protein binding IPI 10081969
GO:0008134 transcription factor binding IBA --
genes like me logo Genes that share ontologies with APBB3: view
genes like me logo Genes that share phenotypes with APBB3: view

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APBB3 Gene

Localization for APBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBB3 Gene

Cytoplasm. Nucleus.
Isoform I-214: Nucleus.
Isoform I-245: Nucleus.

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 APBB3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with APBB3: view

Pathways & Interactions for APBB3 Gene

SuperPathways for APBB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with APBB3: view

No data available for Pathways by source and SIGNOR curated interactions for APBB3 Gene

Transcripts for APBB3 Gene

Unigene Clusters for APBB3 Gene

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

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APBB3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13: -
SP14: - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: -

Relevant External Links for APBB3 Gene

GeneLoc Exon Structure for
APBB3
ECgene alternative splicing isoforms for
APBB3

Expression for APBB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APBB3 Gene

Protein differential expression in normal tissues from HIPED for APBB3 Gene

This gene is overexpressed in Liver, secretome (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APBB3 Gene



Protein tissue co-expression partners for APBB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APBB3 Gene:

APBB3

SOURCE GeneReport for Unigene cluster for APBB3 Gene:

Hs.529449

mRNA Expression by UniProt/SwissProt for APBB3 Gene:

O95704-APBB3_HUMAN
Tissue specificity: Expressed in various tissues, highest expression in brain.
genes like me logo Genes that share expression patterns with APBB3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for APBB3 Gene

Orthologs for APBB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBB3 34 35
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia APBB3 34 35
  • 92.46 (n)
dog
(Canis familiaris)
Mammalia APBB3 34 35
  • 92.22 (n)
mouse
(Mus musculus)
Mammalia Apbb3 34 16 35
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Apbb3 34
  • 87.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APBB3 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBB3 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBB3 34 35
  • 63.73 (n)
lizard
(Anolis carolinensis)
Reptilia APBB3 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apbb3 34
  • 60.56 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883158 34
  • 62.02 (n)
APBB3 35
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea feh-1 35
  • 17 (a)
OneToMany
Species where no ortholog for APBB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 APBB3 Gene

ENSEMBL:
Gene Tree for APBB3 (if available)
TreeFam:
Gene Tree for APBB3 (if available)

Paralogs for APBB3 Gene

Paralogs for APBB3 Gene

genes like me logo Genes that share paralogs with APBB3: view

Variants for APBB3 Gene

Sequence variations from dbSNP and Humsavar for APBB3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10070193 -- 140,563,283(+) AGGGT(C/T)CAATA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1008238 -- 140,560,954(-) GGTGA(C/G)GCCTG intron-variant
rs110346 -- 140,559,429(-) gatta(G/T)gatga intron-variant, upstream-variant-2KB
rs110347 -- 140,559,364(-) aggcc(A/C)attag intron-variant, upstream-variant-2KB
rs111366985 -- 140,558,780(+) GCCTT(A/G)CCTCG upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for APBB3 Gene

Variant ID Type Subtype PubMed ID
nsv599825 CNV loss 21841781
nsv462462 CNV loss 19166990

Variation tolerance for APBB3 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APBB3 Gene

Human Gene Mutation Database (HGMD)
APBB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB3 Gene

Disorders for APBB3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APBB3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search APBB3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APBB3

Genetic Association Database (GAD)
APBB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBB3
genes like me logo Genes that share disorders with APBB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBB3 Gene

Publications for APBB3 Gene

  1. Characterization of an amyloid precursor protein-binding protein Fe65L2 and its novel isoforms lacking phosphotyrosine-interaction domains. (PMID: 12153398) Tanahashi H. … Tabira T. (Biochem. J. 2002) 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein. (PMID: 10081969) Tanahashi H. (Neurosci. Lett. 1999) 3 4 64
  5. Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein. (PMID: 10329396) Tanahashi H. … Tabira T. (Biochem. Biophys. Res. Commun. 1999) 3 4 64

Products for APBB3 Gene

Sources for APBB3 Gene

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