APBB1

Amyloid beta A4 precursor protein-binding family B member 1 is a protein that in humans is encoded by the APBB1 gene.^[5][6][7]

APBB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E45, 2HO2, 2IDH, 3D8D, 3D8E, 3D8F, 3DXC, 3DXD, 3DXE
Identifiers
Aliases	APBB1, amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65), FE65, MGC:9072, RIR, amyloid beta precursor protein binding family B member 1
External IDs	OMIM: 602709; MGI: 107765; HomoloGene: 898; GeneCards: APBB1; OMA:APBB1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 6,395,125 bp[1] End 6,419,414 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 E3|7 55.9 cM Start 105,207,690 bp[2] End 105,230,860 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe C1 segment ganglionic eminence prefrontal cortex anterior pituitary cingulate gyrus Brodmann area 9 anterior cingulate cortex amygdala Top expressed in entorhinal cortex perirhinal cortex primary visual cortex CA3 field superior frontal gyrus dentate gyrus of hippocampal formation granule cell habenula primary motor cortex cerebellar cortex prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-containing complex binding histone binding chromatin binding protein binding tau protein binding proline-rich region binding transcription factor binding amyloid-beta binding ubiquitin protein ligase binding Cellular component postsynaptic membrane nuclear speck cell projection membrane dendritic spine synapse main axon nucleoplasm growth cone lamellipodium soma perinuclear region of cytoplasm growth cone filopodium presynaptic membrane lamellipodium plasma membrane cytoplasm growth cone nucleus protein-containing complex presynapse Biological process regulation of transcription, DNA-templated axonogenesis positive regulation of DNA repair transcription, DNA-templated response to iron ion negative regulation of cell growth positive regulation of protein secretion positive regulation of neuron projection development positive regulation of apoptotic process signal transduction positive regulation of transcription by RNA polymerase II apoptotic process histone H4 acetylation positive regulation of transcription, DNA-templated cellular response to DNA damage stimulus double-strand break repair negative regulation of transcription by RNA polymerase II chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 322 11785 Ensembl ENSG00000166313 ENSMUSG00000037032 UniProt O00213 Q9QXJ1 RefSeq (mRNA) NM_001164 NM_001257319 NM_001257320 NM_001257321 NM_001257322 NM_001257323 NM_001257324 NM_001257325 NM_001257326 NM_145689 NM_001253885 NM_001253886 NM_001253887 NM_009685 NM_001310600 RefSeq (protein) NP_001155 NP_001244248 NP_001244249 NP_001244250 NP_001244252 NP_001244254 NP_001244255 NP_663722 NP_001240814 NP_001240815 NP_001240816 NP_001297529 NP_033815 Location (UCSC) Chr 11: 6.4 – 6.42 Mb Chr 7: 105.21 – 105.23 Mb PubMed search [3] [4]
Wikidata
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Function

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 have been described for this gene but some of their full length sequence is not known.^[7]

Interactions

APBB1 has been shown to interact with APLP2,^[8][9] TFCP2,^[10] LRP1^[11] and Amyloid precursor protein.^{[8][9][11][12][13]}