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

    Gene ID: 10307, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:20708
    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
    mouse all
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    Genomic context

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    See APBB3 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140558268..140564598, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141083699..141090029, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139937853..139944183, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139926903-139927609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139927610-139928317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16450 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139936291-139937112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23276 Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16451 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139944009-139944615 Neighboring gene uncharacterized LOC131768270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139949319-139949820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139949821-139950320 Neighboring gene steroid receptor RNA activator 1 Neighboring gene uncharacterized LOC112267855 Neighboring gene microRNA 6831 Neighboring gene solute carrier family 35 member A4 Neighboring gene small nucleolar RNA SNORA27

    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. Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein. Tanahashi H, et al. Biochem Biophys Res Commun, 1999 May 10. PMID 10329396
    2. Generation of the beta-amyloid peptide and the amyloid precursor protein C-terminal fragment gamma are potentiated by FE65L1. Chang Y, et al. J Biol Chem, 2003 Dec 19. PMID 14527950
    3. Characterization of an amyloid precursor protein-binding protein Fe65L2 and its novel isoforms lacking phosphotyrosine-interaction domains. Tanahashi H, et al. Biochem J, 2002 Nov 1. PMID 12153398, Free PMC Article
    4. Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein. Tanahashi H, et al. Neurosci Lett, 1999 Feb 19. PMID 10081969
    5. Fe65L2: a new member of the Fe65 protein family interacting with the intracellular domain of the Alzheimer's beta-amyloid precursor protein. Duilio A, et al. Biochem J, 1998 Feb 15. PMID 9461550, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC87674, MGC150555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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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_006051.4 → NP_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/TrEMBL
      Q96DX9
      Related
      ENSP00000346378.5, ENST00000354402.9
      Conserved Domains (3) summary
      smart00456
      Location:30 → 61
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:290 → 420
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116 → 261
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

    2. NM_133172.3 → NP_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/TrEMBL
      Q54A46, Q96DX9
      Related
      ENSP00000349177.2, ENST00000356738.6
      Conserved Domains (3) summary
      smart00456
      Location:30 → 61
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:288 → 418
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116 → 259
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

    3. NM_133173.3 → NP_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
      B3KQN9, O95704, Q08AG4, Q96Q18, Q9BYD4, Q9NYX6, Q9NYX7, Q9NYX8
      UniProtKB/TrEMBL
      Q96DX9
      Related
      ENSP00000350171.4, ENST00000357560.9
      Conserved Domains (3) summary
      smart00456
      Location:30 → 61
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:283 → 413
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116 → 254
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

    4. NM_133174.3 → NP_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/TrEMBL
      Q54A46
      Related
      ENSP00000402591.3, ENST00000412920.7
      Conserved Domains (3) summary
      smart00456
      Location:30 → 61
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:281 → 411
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116 → 252
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140558268..140564598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141083699..141090029 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95704.2 GenPept UniProtKB/Swiss-Prot:O95704

    Gene LinkOut

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

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