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

    Gene ID: 10513, updated on 28-Oct-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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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