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

Gene ID: 10513, updated on 13-Feb-2019

Summary

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
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

Genomic context

See APPBP2 in Genome Data Viewer
Location:
17q23.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (60443149..60526240, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58520520..58603580, 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 pseudogene Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1D Neighboring gene RNA, U6 small nuclear 623, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule motor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
intracellular transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex TAS
Traceable Author Statement
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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_001282476.1NP_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)
    AC037475, BP222365, D86981
    UniProtKB/Swiss-Prot
    Q92624
    Conserved Domains (3) summary
    sd00006
    Location:358386
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:357395
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:356433
    TPR_12; Tetratricopeptide repeat
  2. NM_006380.4NP_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, BP222365, D86981
    Consensus CDS
    CCDS32699.1
    UniProtKB/Swiss-Prot
    Q92624
    UniProtKB/TrEMBL
    A0A024QZ47
    Related
    ENSP00000083182.3, ENST00000083182.7
    Conserved Domains (3) summary
    sd00006
    Location:429457
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:428466
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:427504
    TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    60443149..60526240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524198.3XP_011522500.1  amyloid protein-binding protein 2 isoform X1

    Conserved Domains (3) summary
    sd00006
    Location:343371
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:342380
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:341418
    TPR_12; Tetratricopeptide repeat

RNA

  1. XR_002957949.1 RNA Sequence

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