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APBB3 amyloid beta precursor protein binding family B member 3 [ Homo sapiens (human) ]

Gene ID: 10307, updated on 7-Jun-2020

Summary

Official Symbol
APBB3provided by HGNC
Official Full Name
amyloid beta precursor protein binding family B member 3provided by HGNC
Primary source
HGNC:HGNC:20708
See related
Ensembl:ENSG00000113108 MIM:602711
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
SRA; FE65L2
Summary
The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 17.3), adrenal (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See APBB3 in Genome Data Viewer
Location:
5q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (140558268..140564604, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139937853..139944189, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene uncharacterized LOC112267855 Neighboring gene steroid receptor RNA activator 1 Neighboring gene microRNA 6831 Neighboring gene solute carrier family 35 member A4 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 1 Neighboring gene transmembrane and coiled-coil domains 6 Neighboring gene ribosomal protein L36 pseudogene 11

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87674, MGC150555

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
amyloid-beta A4 precursor protein-binding family B member 3
Names
FE65-like protein 2
amyloid beta (A4) precursor protein-binding, family B, member 3
amyloid precursor interacting protein
protein Fe65-like 2

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_006051.3NP_006042.3  amyloid-beta A4 precursor protein-binding family B member 3 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (d).
    Source sequence(s)
    AB209839, AF224711, BC013158, BF448559
    Consensus CDS
    CCDS4227.1
    UniProtKB/Swiss-Prot
    O95704
    UniProtKB/TrEMBL
    Q59EH2, Q96DX9
    Related
    ENSP00000346378.5, ENST00000354402.9
    Conserved Domains (3) summary
    smart00456
    Location:3061
    WW; Domain with 2 conserved Trp (W) residues
    cd01271
    Location:290420
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:116261
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
  2. NM_133172.2NP_573418.2  amyloid-beta A4 precursor protein-binding family B member 3 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a 6 nt miniexon in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 3 encodes isoform c which lacks 2 internal aa as compared to isoform d encoded by transcript variant 4.
    Source sequence(s)
    AB209839, AF224708, BC013158, BF448559
    Consensus CDS
    CCDS4228.1
    UniProtKB/Swiss-Prot
    O95704
    UniProtKB/TrEMBL
    Q59EH2, Q96DX9
    Related
    ENSP00000349177.2, ENST00000356738.6
    Conserved Domains (3) summary
    smart00456
    Location:3061
    WW; Domain with 2 conserved Trp (W) residues
    cd01271
    Location:288418
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:116259
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
  3. NM_133173.2NP_573419.2  amyloid-beta A4 precursor protein-binding family B member 3 isoform b

    See identical proteins and their annotated locations for NP_573419.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 21 nt miniexon in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 2 encodes isoform b which lacks 7 internal aa as compared to the longest isoform (d) encoded by transcript variant 4.
    Source sequence(s)
    AB209839, BC013158, BF448559
    Consensus CDS
    CCDS4229.1
    UniProtKB/Swiss-Prot
    O95704
    UniProtKB/TrEMBL
    Q59EH2, Q96DX9
    Related
    ENSP00000350171.4, ENST00000357560.8
    Conserved Domains (3) summary
    smart00456
    Location:3061
    WW; Domain with 2 conserved Trp (W) residues
    cd01271
    Location:283413
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:116254
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
  4. NM_133174.2NP_573420.2  amyloid-beta A4 precursor protein-binding family B member 3 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks tandem 6 nt and 21 nt miniexons in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 1 encodes isoform a which lacks 9 internal aa as compared to isoform d encoded by transcript variant 4.
    Source sequence(s)
    AB209839, AF224710, BC013158, BF448559
    Consensus CDS
    CCDS47279.1
    UniProtKB/Swiss-Prot
    O95704
    UniProtKB/TrEMBL
    Q59EH2, Q96DX9
    Related
    ENSP00000402591.3, ENST00000412920.7
    Conserved Domains (3) summary
    smart00456
    Location:3061
    WW; Domain with 2 conserved Trp (W) residues
    cd01271
    Location:281411
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:116252
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    140558268..140564604 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133175.1: Suppressed sequence

    Description
    NM_133175.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_133176.1: Suppressed sequence

    Description
    NM_133176.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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