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APBB1 amyloid beta precursor protein binding family B member 1 [ Homo sapiens (human) ]

Gene ID: 322, updated on 5-Dec-2021

Summary

Official Symbol
APBB1provided by HGNC
Official Full Name
amyloid beta precursor protein binding family B member 1provided by HGNC
Primary source
HGNC:HGNC:581
See related
Ensembl:ENSG00000166313 MIM:602709
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
RIR; FE65; MGC:9072
Summary
The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
Expression
Broad expression in brain (RPKM 44.0), ovary (RPKM 11.7) and 17 other tissues See more
Orthologs
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Genomic context

See APBB1 in Genome Data Viewer
Location:
11p15.4
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (6395124..6419453, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6416354..6440683, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927825 Neighboring gene caveolae associated protein 3 Neighboring gene Sharpr-MPRA regulatory region 8482 Neighboring gene sphingomyelin phosphodiesterase 1 Neighboring gene hemopexin Neighboring gene tripartite motif containing 3 Neighboring gene Sharpr-MPRA regulatory region 6512

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686G05200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables low-density lipoprotein particle receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables proline-rich region binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
amyloid beta precursor protein binding family B member 1
Names
adaptor protein FE65a2
amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
stat-like protein

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.

Genomic

  1. NG_029615.1 RefSeqGene

    Range
    4962..29290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164.5NP_001155.1  amyloid beta precursor protein binding family B member 1 isoform a

    See identical proteins and their annotated locations for NP_001155.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as E9). This isoform is exclusively expressed in neurons.
    Source sequence(s)
    BC010854, HY145957, L77864
    Consensus CDS
    CCDS66018.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000477213.1, ENST00000609360.6
    Conserved Domains (3) summary
    cd01271
    Location:535660
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:368507
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:255283
    WW; WW domain
  2. NM_001257319.3NP_001244248.1  amyloid beta precursor protein binding family B member 1 isoform g

    See identical proteins and their annotated locations for NP_001244248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (g) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BX538185, DC316489
    Consensus CDS
    CCDS66017.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000476846.1, ENST00000608655.5
    Conserved Domains (3) summary
    cd01271
    Location:315440
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:148287
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:3563
    WW; WW domain
  3. NM_001257320.2NP_001244249.1  amyloid beta precursor protein binding family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001244249.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (d) with a shorter N-terminus, compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (d).
    Source sequence(s)
    BM145723, EF103274, HY118301
    Consensus CDS
    CCDS66015.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000476871.1, ENST00000608704.5
    Conserved Domains (3) summary
    cd01271
    Location:276401
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:109248
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:524
    WW; WW domain
  4. NM_001257321.2NP_001244250.1  amyloid beta precursor protein binding family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001244250.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (d) with a shorter N-terminus, compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (d).
    Source sequence(s)
    AK297550, BM145723, EF103274
    Consensus CDS
    CCDS66015.1
    UniProtKB/Swiss-Prot
    O00213
    UniProtKB/TrEMBL
    B7Z4M9
    Related
    ENSP00000476442.1, ENST00000608394.5
    Conserved Domains (3) summary
    cd01271
    Location:276401
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:109248
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:524
    WW; WW domain
  5. NM_001257323.3NP_001244252.1  amyloid beta precursor protein binding family B member 1 isoform f

    See identical proteins and their annotated locations for NP_001244252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region, and lacks an alternate, in-frame exon in the coding region compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (f) that is shorter with a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK295241, BC010854, DC316489
    Consensus CDS
    CCDS58114.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000433338.1, ENST00000530885.5
    Conserved Domains (3) summary
    cd01271
    Location:313438
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:148285
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:3563
    WW; WW domain
  6. NM_001257325.3NP_001244254.1  amyloid beta precursor protein binding family B member 1 isoform e

    See identical proteins and their annotated locations for NP_001244254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (e) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK293554, BC010854, DC306210, DC319935
    Consensus CDS
    CCDS66016.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000477069.1, ENST00000609331.5
    Conserved Domains (3) summary
    cd01271
    Location:300425
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:133272
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:2048
    WW; WW domain
  7. NM_001257326.2NP_001244255.1  amyloid beta precursor protein binding family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001244255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (d) with a shorter N-terminus, compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (d).
    Source sequence(s)
    AK293550, AK297550, BC010854, BM145723
    Consensus CDS
    CCDS66015.1
    UniProtKB/Swiss-Prot
    O00213
    UniProtKB/TrEMBL
    B7Z4M9
    Related
    ENSP00000476646.1, ENST00000608645.5
    Conserved Domains (3) summary
    cd01271
    Location:276401
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:109248
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:524
    WW; WW domain
  8. NM_145689.3NP_663722.1  amyloid beta precursor protein binding family B member 1 isoform b

    See identical proteins and their annotated locations for NP_663722.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate, in-frame exon in the coding region compared to variant 1. This results in a protein that maintains the reading frame but is a shorter isoform (b, also known as delta E9), compared to isoform a. This encoded isoform (b) is widely expressed in all non-neuronal cells but is not expressed in differentiated neurons.
    Source sequence(s)
    BC010854, HY138432
    Consensus CDS
    CCDS31410.1
    UniProtKB/Swiss-Prot
    O00213
    Related
    ENSP00000311912.3, ENST00000311051.7
    Conserved Domains (3) summary
    cd01271
    Location:533658
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:368505
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:255283
    WW; WW domain

RNA

  1. NR_047512.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses an alternate acceptor splice site in the 3' terminal exon compared to variant 1. The resulting open reading frame (ORF) has no stop codon, and no other ORF is supported. Therefore, this is likely to be a non-coding transcript and subject to degradation via the nonstop-mediated mRNA surveillance pathway.
    Source sequence(s)
    AF394214, BC010854, BM145723, HY145957
    Related
    ENST00000608435.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    6395124..6419453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001257322.1: Suppressed sequence

    Description
    NM_001257322.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_001257324.1: Suppressed sequence

    Description
    NM_001257324.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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