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

Gene ID: 10307, updated on 5-Mar-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
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Genomic context

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Location:
5q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140558268..140564598, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141083699..141090029, complement)
105.20220307 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

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 (22) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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