APBB1 (amyloid beta precursor protein binding family B member 1)

2003-06-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
FE65,MGC:9072,RIR
FUSION GENES

Other Information

Locus ID:

NCBI: 322
MIM: 602709
HGNC: 581
Ensembl: ENSG00000166313

Variants:

dbSNP: 322
ClinVar: 322
TCGA: ENSG00000166313
COSMIC: APBB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166313ENST00000299402O00213
ENSG00000166313ENST00000311051O00213
ENSG00000166313ENST00000389906J3KPL8
ENSG00000166313ENST00000529519V9GYR7
ENSG00000166313ENST00000529890V9GY97
ENSG00000166313ENST00000530885O00213
ENSG00000166313ENST00000532020V9GYD5
ENSG00000166313ENST00000608394O00213
ENSG00000166313ENST00000608435A0A075B7G8
ENSG00000166313ENST00000608645O00213
ENSG00000166313ENST00000608655O00213
ENSG00000166313ENST00000608704O00213
ENSG00000166313ENST00000609331O00213
ENSG00000166313ENST00000609360O00213
ENSG00000166313ENST00000610474A0A087X0V7
ENSG00000166313ENST00000618005A0A087X0V7
ENSG00000166313ENST00000621678A0A087WYH9

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150444852004Dissection of amyloid-beta precursor protein-dependent transcriptional transactivation.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
128885532003The intracellular domain of the low density lipoprotein receptor-related protein modulates transactivation mediated by amyloid precursor protein and Fe65.37
127793212003gamma-Secretase cleavage and binding to FE65 regulate the nuclear translocation of the intracellular C-terminal domain (ICD) of the APP family of proteins.33
188332872008Structure of the intracellular domain of the amyloid precursor protein in complex with Fe65-PTB2.32
188001652008Amyloid oligomer conformation in a group of natively folded proteins.31
150376142004Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation.30
184803792008Evidence for a role of the amyloid precursor protein in thyroid carcinogenesis.23
163326862006A dominant role for FE65 (APBB1) in nuclear signaling.21
189227982008Dexras1 interacts with FE65 to regulate FE65-amyloid precursor protein-dependent transcription.21

Citation

Dessen P

APBB1 (amyloid beta precursor protein binding family B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/665/apbb1