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Aliases for APBB1 Gene

Aliases for APBB1 Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 1 2 3 5
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 1 (Fe65) 2 3
  • FE65 3 4
  • RIR 3 4
  • Amyloid Beta A4 Precursor Protein-Binding Family B Member 1 3
  • Adaptor Protein FE65a2 3
  • Stat-Like Protein 3
  • Protein Fe65 4
  • MGC:9072 3

External Ids for APBB1 Gene

Previous HGNC Symbols for APBB1 Gene

  • RIR

Previous GeneCards Identifiers for APBB1 Gene

  • GC11M007159
  • GC11M006876
  • GC11M006375
  • GC11M006380
  • GC11M006355
  • GC11M006373
  • GC11M006075

Summaries for APBB1 Gene

Entrez Gene Summary for APBB1 Gene

  • The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for APBB1 Gene

APBB1 (Amyloid Beta Precursor Protein Binding Family B Member 1) is a Protein Coding gene. Diseases associated with APBB1 include Alzheimer Disease and Second-Degree Atrioventricular Block. Among its related pathways are DNA Double-Strand Break Repair and Neuroscience. GO annotations related to this gene include chromatin binding and histone binding. An important paralog of this gene is APBB2.

UniProtKB/Swiss-Prot for APBB1 Gene

  • Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on Tyr-142 (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s).

Gene Wiki entry for APBB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBB1 Gene

Genomics for APBB1 Gene

Regulatory Elements for APBB1 Gene

Enhancers for APBB1 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
GH11G006742 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -325.8 -325761 6.5 HDAC1 TBP PKNOX1 CBX3 NFRKB YBX1 TCF12 ZNF766 GATA2 CBX5 RRP8 OR2AG2 CAVIN3 ILK DCHS1 TAF10 ENSG00000254641 OR10A4 APBB1 SMPD1
GH11G006479 1.3 ENCODE dbSUPER 10.4 -62.0 -61961 3.6 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SP3 TIMM10B FAM160A2 APBB1 SMPD1 TRIM34 TRIM3
GH11G006473 1.2 ENCODE dbSUPER 10.4 -55.9 -55865 4.6 FOXA2 AGO1 SIN3A GLIS2 KDM4B ZNF263 NFYC SMARCA4 GLIS1 PRDM4 TRIM3 APBB1 SMPD1 TIMM10B
GH11G006693 1.4 Ensembl ENCODE dbSUPER 8.8 -275.5 -275528 3.3 HDAC1 PKNOX1 TCF12 ZNF121 GATA2 FOS CAVIN1 ZBTB11 HDAC8 NR2F2 GVINP2 OR2AG2 RRP8 ILK ENSG00000254400 TAF10 ENSG00000254641 APBB1 SMPD1 GC11P006694
GH11G006458 1.1 ENCODE 10.7 -40.1 -40065 2.4 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SP3 SP5 TIMM10B ARFIP2 DNHD1 RRP8 FAM160A2 APBB1 SMPD1 GC11P006457 GC11M006470
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APBB1 on UCSC Golden Path with GeneCards custom track

Promoters for APBB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036294 372 1401 FOXA2 SIN3A ARID4B YY1 ZNF766 GLIS2 ELK1 NFIL3 MIER3 ZNF610

Transcription factor binding sites by QIAGEN in the APBB1 gene promoter:

Genomic Location for APBB1 Gene

Chromosome:
11
Start:
6,395,124 bp from pter
End:
6,419,472 bp from pter
Size:
24,349 bases
Orientation:
Minus strand

Genomic View for APBB1 Gene

Genes around APBB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBB1 Gene

Proteins for APBB1 Gene

  • Protein details for APBB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00213-APBB1_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family B member 1
    Protein Accession:
    O00213
    Secondary Accessions:
    • A1E379
    • A6NH82
    • A6NL69
    • B7Z1J5
    • B7Z1J6
    • B7Z2Y0
    • D3DQT2
    • Q7Z324
    • Q96A93
    • V9GYK0
    • V9GYT4

    Protein attributes for APBB1 Gene

    Size:
    710 amino acids
    Molecular mass:
    77244 Da
    Quaternary structure:
    • Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts (via PID domain 2) with APP (with the intracellular domain of the beta-amyloid precursor protein). Interacts (via PID domain 2) with RASD1/DEXRAS1; impairs the transcription activation activity. Interacts (via PID domain 1) with KAT5/TIP60. Interacts (via the WW domain) with the proline-rich region of APBB1IP. Interacts with TSHZ1 and TSHZ2 (By similarity). Interacts (via the WW domain) with histone H2AX (when phosphorylated on Tyr-142) and the proline-rich region of ENAH. Interacts with MAPK8. Interacts (via PID domain 1) with TSHZ3 (via homeobox domain). Interacts with SET. Found in a trimeric complex with HDAC1 and TSHZ3; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Interacts (via WWW domain) with NEK6. Interacts (via WWW domain) with ABL1.
    SequenceCaution:
    • Sequence=CAD98057.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for APBB1 Gene

    Alternative splice isoforms for APBB1 Gene

neXtProt entry for APBB1 Gene

Post-translational modifications for APBB1 Gene

  • Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated following nuclear translocation. Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity and reduces the affinity for RASD1/DEXRAS1.
  • Ubiquitination at posLast=4848
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for APBB1 (Fe65)
  • Abcam antibodies for APBB1

No data available for DME Specific Peptides for APBB1 Gene

Domains & Families for APBB1 Gene

Protein Domains for APBB1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with APBB1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for APBB1 Gene

Function for APBB1 Gene

Molecular function for APBB1 Gene

GENATLAS Biochemistry:
amyloid beta (A4) precursor protein binding,family B,member 1
UniProtKB/Swiss-Prot Function:
Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on Tyr-142 (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s).

Gene Ontology (GO) - Molecular Function for APBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding NAS 8894693
GO:0003682 chromatin binding IDA 19343227
GO:0005515 protein binding IPI 8887653
GO:0008134 transcription factor binding ISS --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with APBB1: view
genes like me logo Genes that share phenotypes with APBB1: view

Animal Models for APBB1 Gene

MGI Knock Outs for APBB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for APBB1

CRISPR Products

miRNA for APBB1 Gene

miRTarBase miRNAs that target APBB1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APBB1 Gene

Localization for APBB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBB1 Gene

Cell membrane. Cytoplasm. Nucleus. Cell projection, growth cone. Nucleus speckle. Note=Colocalizes with TSHZ3 in axonal growth cone (By similarity). In normal conditions, it mainly localizes to the cytoplasm, while a small fraction is tethered to the cell membrane via its interaction with APP. Following exposure to DNA damaging agents, it is released from cell membrane and translocates to the nucleus. Nuclear translocation is under the regulation of APP. Colocalizes with TSHZ3 in the nucleus. Colocalizes with NEK6 at the nuclear speckles. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). {ECO:0000250}.

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 APBB1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for APBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 18468999
GO:0005886 plasma membrane IDA 18468999
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with APBB1: view

Pathways & Interactions for APBB1 Gene

genes like me logo Genes that share pathways with APBB1: view

Pathways by source for APBB1 Gene

1 KEGG pathway for APBB1 Gene
1 Qiagen pathway for APBB1 Gene

SIGNOR curated interactions for APBB1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for APBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IGI 21803450
GO:0006302 double-strand break repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with APBB1: view

Drugs & Compounds for APBB1 Gene

(1) Drugs for APBB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for APBB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APBB1: view

Transcripts for APBB1 Gene

Unigene Clusters for APBB1 Gene

Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APBB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1:
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6:
SP7: - - - - - -
SP8: - -
SP9:
SP10:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for APBB1 Gene

GeneLoc Exon Structure for
APBB1
ECgene alternative splicing isoforms for
APBB1

Expression for APBB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APBB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APBB1 Gene

This gene is overexpressed in Neutrophil (16.3), CD8 Tcells (14.7), and Monocytes (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APBB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of APBB1 Gene:

APBB1

SOURCE GeneReport for Unigene cluster for APBB1 Gene:

Hs.372840

mRNA Expression by UniProt/SwissProt for APBB1 Gene:

O00213-APBB1_HUMAN
Tissue specificity: Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.

Evidence on tissue expression from TISSUES for APBB1 Gene

  • Nervous system(5)
  • Eye(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with APBB1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for APBB1 Gene

Orthologs for APBB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBB1 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia APBB1 34 35
  • 93.15 (n)
cow
(Bos Taurus)
Mammalia APBB1 34 35
  • 92.17 (n)
mouse
(Mus musculus)
Mammalia Apbb1 34 16 35
  • 90.33 (n)
rat
(Rattus norvegicus)
Mammalia Apbb1 34
  • 89.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APBB1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBB1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBB1 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBB1 35
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3707 34
zebrafish
(Danio rerio)
Actinopterygii apbb1 34 35
  • 59.92 (n)
worm
(Caenorhabditis elegans)
Secernentea feh-1 35
  • 24 (a)
OneToMany
Species where no ortholog for APBB1 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for APBB1 Gene

ENSEMBL:
Gene Tree for APBB1 (if available)
TreeFam:
Gene Tree for APBB1 (if available)

Paralogs for APBB1 Gene

Paralogs for APBB1 Gene

genes like me logo Genes that share paralogs with APBB1: view

Variants for APBB1 Gene

Sequence variations from dbSNP and Humsavar for APBB1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs12273714 Likely benign 6,394,698(+) TCATC(C/T)GGTGA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1803160 Likely benign 6,394,681(+) GGTTC(A/C)ACCAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs8164 Likely benign 6,394,652(+) AAAGG(A/G)TGAAA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs12278115 Uncertain significance 6,394,901(+) CTGTC(A/C/G)CCCCA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs886048448 Uncertain significance 6,394,790(+) GGGGG(G/T)TTGGC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for APBB1 Gene

Variant ID Type Subtype PubMed ID
esv2667097 CNV deletion 23128226
nsv553371 CNV loss 21841781

Variation tolerance for APBB1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APBB1 Gene

Human Gene Mutation Database (HGMD)
APBB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB1 Gene

Disorders for APBB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for APBB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
second-degree atrioventricular block
  • second-degree heart block
ureterolithiasis
  • calculus of ureter
- elite association - COSMIC cancer census association via MalaCards
Search APBB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APBB1

Genetic Association Database (GAD)
APBB1
Human Genome Epidemiology (HuGE) Navigator
APBB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBB1
genes like me logo Genes that share disorders with APBB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBB1 Gene

Publications for APBB1 Gene

  1. The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type. (PMID: 9799084) Hu Q. … Deeb S.S. (Hum. Genet. 1998) 3 4 22 46 64
  2. cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta- amyloid precursor protein and its homologues with the mouse Fe65 protein. (PMID: 8894693) Bressler S.L. … Martin G.M. (Hum. Mol. Genet. 1996) 2 3 4 22 64
  3. Regulation of FE65 nuclear translocation and function by amyloid beta-protein precursor in osmotically stressed cells. (PMID: 18468999) Nakaya T. … Suzuki T. (J. Biol. Chem. 2008) 3 4 22 64
  4. Structure of the intracellular domain of the amyloid precursor protein in complex with Fe65-PTB2. (PMID: 18833287) Radzimanowski J. … Wild K. (EMBO Rep. 2008) 3 4 22 64
  5. Dexras1 interacts with FE65 to regulate FE65-amyloid precursor protein-dependent transcription. (PMID: 18922798) Lau K.-F. … Miller C.C.J. (J. Biol. Chem. 2008) 3 4 22 64

Products for APBB1 Gene

Sources for APBB1 Gene

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