APBB1

Also known as amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65), FE65, MGC:9072, RIR, amyloid beta precursor protein binding family B member 1

gene da espécie Homo sapiens

Gene data

APBB1

Name: amyloid beta precursor protein binding family B member 1
Type: protein-coding
Position: 6,395,111–6,419,515 (−)
Aliases: FE65, MGC:9072, RIR
Ensembl: ENSG00000166313
RefSeq RNA: NM_001164.5, NM_001257319.3, NM_001257320.2, NM_001257321.2, NM_001257322.1
RefSeq protein: NP_001155.1, NP_001244248.1, NP_001244249.1, NP_001244250.1, NP_001244252.1

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].

Pathways

Alzheimer disease - Homo sapiens (human)DNA Double-Strand Break Repair Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks DNA Double Strand Break Response DNA Repair Alzheimer,s disease

via MyGene.info

Gene · Ensembl

amyloid beta precursor protein binding family B member 1

Symbol: APBB1
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:6,395,111-6,419,515
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein APBB1 PDB 2e45.png

Show 8 more facts

HomoloGene ID: 898
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/322
genomic start: 6395125
chromosome: human chromosome 11
genomic end: 6440644
cytogenetic location: 11p15.4
expressed in: amygdala

Sources (3)

via Wikidata · CC0

Article · Português

APBB1 (do inglês: Amyloid beta A4 precursor protein-binding family B member 1) é uma proteína que nos humanos é codificada pelo gene com o mesmo nome. A proteína codificada por este gene é um dos membros da família proteíca Fe65. É uma proteína adaptadora localização no núcleo celular. Interage com a proteína APP (Alzheimer's disease amyloid precursor protein), com o factor de transcrição CP2/LSF/LBP1 e com a proteína relacionada com o receptor da lipoproteína de baixa densidade (LDLr). A APP funciona como local de ancoragem no citosol que pode prevenir a translocação nuclear dos produtos genéticos. Esta proteína codificada pode desempenhar um importante papel na patogénese da doença de Alzheimer. Pensa-se que possa regular a transcrição. É também observado bloquear a progressão do ciclo celular por infrarregulação de expressão de .

Abstract from DBpedia / Wikipedia · CC BY-SA