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

    Gene ID: 322, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:581
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APBB1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6395124..6419453, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6453583..6477913, complement)
    RS_2024_09 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 LOC124902624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3099 Neighboring gene sphingomyelin phosphodiesterase 1 Neighboring gene Sharpr-MPRA regulatory region 8482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3102 Neighboring gene hemopexin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4341 Neighboring gene tripartite motif containing 3 Neighboring gene Sharpr-MPRA regulatory region 6512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6493832-6494771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6494772-6495710

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    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
     
    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 molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    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 ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axonogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell cycle G1/S phase transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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)

    NEW Try the new Transcript table

    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
      5321..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
      A1E379, A6NH82, A6NL69, B7Z1J5, B7Z1J6, B7Z2Y0, D3DQT2, O00213, Q7Z324, Q96A93, V9GYK0, V9GYT4
      UniProtKB/TrEMBL
      A0A075B7G8
      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/TrEMBL
      B7Z327, B7Z9K0
      Related
      ENSP00000476846.1, ENST00000608655.6
      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/TrEMBL
      B7Z327, B7Z9K0
      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/TrEMBL
      B7Z327, B7Z9K0
      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/TrEMBL
      B7Z327, B7Z9K0
      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/TrEMBL
      B7Z327, B7Z9K0
      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/TrEMBL
      B7Z327, B7Z9K0
      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/TrEMBL
      A0A075B7G8
      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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6453583..6477913 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.