APBB1
Amyloid beta precursor protein binding family B member 1
Also known as: APBB1_HUMAN, Fe65, RIR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00213
- Gene
- APBB1
- Ensembl
- ENSG00000166313
- Chromosome
- 11
- Canonical length
- 710 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Plasma membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
710 residues, UniProt reviewed canonical sequence.
>O00213|APBB1
1 MSVPSSLSQS AINANSHGGP ALSLPLPLHA AHNQLLNAKL QATAVGPKDL RSAMGEGGGP
61 EPGPANAKWL KEGQNQLRRA ATAHRDQNRN VTLTLAEEAS QEPEMAPLGP KGLIHLYSEL
121 ELSAHNAANR GLRGPGLIIS TQEQGPDEGE EKAAGEAEEE EEDDDDEEEE EDLSSPPGLP
181 EPLESVEAPP RPQALTDGPR EHSKSASLLF GMRNSAASDE DSSWATLSQG SPSYGSPEDT
241 DSFWNPNAFE TDSDLPAGWM RVQDTSGTYY WHIPTGTTQW EPPGRASPSQ GSSPQEESQL
301 TWTGFAHGEG FEDGEFWKDE PSDEAPMELG LKEPEEGTLT FPAQSLSPEP LPQEEEKLPP
361 RNTNPGIKCF AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ LSYHKNNLHD PMSGGWGEGK
421 DLLLQLEDET LKLVEPQSQA LLHAQPIISI RVWGVGRDSG RERDFAYVAR DKLTQMLKCH
481 VFRCEAPAKN IATSLHEICS KIMAERRNAR CLVNGLSLDH SKLVDVPFQV EFPAPKNELV
541 QKFQVYYLGN VPVAKPVGVD VINGALESVL SSSSREQWTP SHVSVAPATL TILHQQTEAV
601 LGECRVRFLS FLAVGRDVHT FAFIMAAGPA SFCCHMFWCE PNAASLSEAV QAACMLRYQK
661 CLDARSQAST SCLPAPPAES VARRVGWTVR RGVQSLWGSL KPKRLGAHTPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against APBB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 192 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 192 nTPM
- cerebral cortex: 158 nTPM
- spinal cord: 134 nTPM
- hippocampal formation: 99 nTPM
- amygdala: 92 nTPM
- midbrain: 90 nTPM
Single-cell type
- oligodendrocytes: 152 nCPM
- brain excitatory neurons: 76 nCPM
- oligodendrocyte progenitor cells: 74 nCPM
- retinal bipolar cells: 69 nCPM
- pancreatic islet cells: 62 nCPM
- brain inhibitory neurons: 58 nCPM
Immune cell
- naive CD4 T-cell: 86 nTPM
- naive CD8 T-cell: 52 nTPM
- T-reg: 49 nTPM
- memory CD4 T-cell: 33 nTPM
- memory CD8 T-cell: 30 nTPM
- total PBMC: 30 nTPM
Brain region
- white matter: 265 nTPM
- pons: 241 nTPM
- cerebral cortex: 212 nTPM
- cerebellum: 202 nTPM
- basal ganglia: 202 nTPM
- medulla oblongata: 194 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 1.56
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- axonogenesis
- chromatin organization
- DNA damage response
- negative regulation of cell cycle G1/S phase transition
- negative regulation of transcription by RNA polymerase II
- positive regulation of apoptotic process
- positive regulation of DNA-templated transcription
- positive regulation of neuron projection development
- positive regulation of protein secretion
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- signal transduction
- smooth muscle contraction
Molecular functions
- amyloid-beta binding
- chromatin binding
- histone binding
- low-density lipoprotein particle receptor binding
- molecular adaptor activity
- proline-rich region binding
- transcription coactivator activity
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of APBB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads APBB1 as an antibody target. Whether an autoantibody or antibody against APBB1 could matter depends on whether native APBB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
APBB1 is annotated at the cell surface, where native APBB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label APBB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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