APBB1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

PDBOrtholog search: PDBe RCSB
AliasesAPBB1, amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65), FE65, MGC:9072, RIR, amyloid beta precursor protein binding family B member 1
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APBB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPBB1, 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 IDsOMIM: 602709; MGI: 107765; HomoloGene: 898; GeneCards: APBB1; OMA:APBB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001253885
NM_001253886
NM_001253887
NM_009685
NM_001310600

RefSeq (protein)

NP_001240814
NP_001240815
NP_001240816
NP_001297529
NP_033815

Location (UCSC)Chr 11: 6.4 – 6.42 MbChr 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

References

Further reading

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