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APPBP2 amyloid beta precursor protein binding protein 2 [ Homo sapiens (human) ]

Gene ID: 10513, updated on 2-Nov-2024

Summary

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Official Symbol
APPBP2provided by HGNC
Official Full Name
amyloid beta precursor protein binding protein 2provided by HGNC
Primary source
HGNC:HGNC:622
See related
Ensembl:ENSG00000062725 MIM:605324; AllianceGenome:HGNC:622
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAT1; APP-BP2; HS.84084
Summary
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression
Ubiquitous expression in testis (RPKM 16.4), brain (RPKM 11.4) and 25 other tissues See more
Orthologs
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Genomic context

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See APPBP2 in Genome Data Viewer
Location:
17q23.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60443158..60526242, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61312089..61395159, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58520519..58603603, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 38 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 42 Neighboring gene splicing factor 3B subunit 6-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58602514-58603222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8794 Neighboring gene MPRA-validated peak2927 silencer Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene NANOG hESC enhancer GRCh37_chr17:58656843-58657505 Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene MPRA-validated peak2928 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58676487-58677475 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58677476-58678463 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1D Neighboring gene MPRA-validated peak2930 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8795 Neighboring gene RNA, U6 small nuclear 623, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Pat1 proteins: a life in translation, translation repression and mRNA decay. Marnef A, et al. Biochem Soc Trans, 2010 Dec. PMID 21118134
  2. Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer. Sheng J, et al. J Chemother, 2022 Oct. PMID 34861803
  3. The gamma -secretase-cleaved C-terminal fragment of amyloid precursor protein mediates signaling to the nucleus. Gao Y, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11742091, Free PMC Article
  4. CRL2(APPBP2)-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence. Huang D, et al. Sci China Life Sci, 2024 Mar. PMID 38170390
  5. Amyloid-β precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit α type-5 and proteasome subunit β type-7. Wu Y, et al. Neurobiol Aging, 2015 Jan. PMID 25194880

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CRL2[APPBP2]-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence.
    Title: CRL2(APPBP2)-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence.
  2. Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer.
    Title: Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer.
  3. It facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunits.
    Title: Amyloid-β precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit α type-5 and proteasome subunit β type-7.
  4. Association of the herpes simplex virus type 1 Us11 gene product with the cellular kinesin light-chain-related protein PAT1 results in the redistribution of both polypeptides.
    Title: Association of the herpes simplex virus type 1 Us11 gene product with the cellular kinesin light-chain-related protein PAT1 results in the redistribution of both polypeptides.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule motor activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin-like ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within intracellular transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cul2-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Cul2-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
part_of microtubule associated complex TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
amyloid protein-binding protein 2
Names
amyloid beta precursor protein (cytoplasmic tail) binding protein 2
protein interacting with APP tail 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282476.2 → NP_001269405.1  amyloid protein-binding protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant (1). The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC011921, AC037475
    UniProtKB/Swiss-Prot
    Q92624
    Conserved Domains (3) summary
    sd00006
    Location:358 → 386
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:357 → 395
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:356 → 433
    TPR_12; Tetratricopeptide repeat

  2. NM_006380.5 → NP_006371.2  amyloid protein-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_006371.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and the longer isoform (1).
    Source sequence(s)
    AC011921, AC037475
    Consensus CDS
    CCDS32699.1
    UniProtKB/Swiss-Prot
    A8K862, O95095, Q8WVC9, Q92624
    Related
    ENSP00000083182.3, ENST00000083182.8
    Conserved Domains (1) summary
    pfam13424
    Location:427 → 504
    TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    60443158..60526242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435116.1 → XP_047291072.1  amyloid protein-binding protein 2 isoform X1

  2. XM_047435118.1 → XP_047291074.1  amyloid protein-binding protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    61312089..61395159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314702.1 → XP_054170677.1  amyloid protein-binding protein 2 isoform X1

  2. XM_054314703.1 → XP_054170678.1  amyloid protein-binding protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92624.2 GenPept UniProtKB/Swiss-Prot:Q92624

Gene LinkOut

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