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    Apbb1 amyloid beta precursor protein binding family B member 1 [ Mus musculus (house mouse) ]

    Gene ID: 11785, updated on 27-Nov-2024

    Summary

    Official Symbol
    Apbb1provided by MGI
    Official Full Name
    amyloid beta precursor protein binding family B member 1provided by MGI
    Primary source
    MGI:MGI:107765
    See related
    Ensembl:ENSMUSG00000037032 AllianceGenome:MGI:107765
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rir; Fe65
    Summary
    Enables ubiquitin protein ligase binding activity. Involved in several processes, including double-strand break repair; positive regulation of DNA repair; and smooth muscle contraction. Acts upstream of or within several processes, including generation of neurons; negative regulation of neuron differentiation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and neuromuscular junction. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human APBB1 (amyloid beta precursor protein binding family B member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cortex adult (RPKM 63.0), cerebellum adult (RPKM 56.3) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Apbb1 in Genome Data Viewer
    Location:
    7 E3; 7 55.9 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (105207691..105231151, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (105558465..105581924, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39063 Neighboring gene STARR-positive B cell enhancer ABC_E4961 Neighboring gene sphingomyelin phosphodiesterase 1, acid lysosomal Neighboring gene hemopexin Neighboring gene tripartite motif-containing 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables amyloid-beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables proline-rich region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables tau protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA repair-dependent chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within axon guidance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within extracellular matrix organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of cell cycle G1/S phase transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell cycle G1/S phase transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in smooth muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Schaffer collateral - CA1 synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in main axon ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    amyloid beta precursor protein binding family B member 1
    Names
    amyloid beta (A4) precursor protein-binding, family B, member 1

    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.

    mRNA and Protein(s)

    1. NM_001253885.2NP_001240814.1  amyloid beta precursor protein binding family B member 1 isoform 1

      See identical proteins and their annotated locations for NP_001240814.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC125227
      Consensus CDS
      CCDS80776.1
      UniProtKB/Swiss-Prot
      E9QNW5, O08642, Q3TPU0, Q8BNF4, Q8BSR9, Q9QXJ1
      UniProtKB/TrEMBL
      A0A0R4J2C1
      Related
      ENSMUSP00000140116.2, ENSMUST00000191601.7
      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_001253886.2NP_001240815.1  amyloid beta precursor protein binding family B member 1 isoform 2

      See identical proteins and their annotated locations for NP_001240815.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1. Variants 2 and 4 encode the same isoform (2).
      Source sequence(s)
      AC125227
      Consensus CDS
      CCDS80775.1
      UniProtKB/Swiss-Prot
      E9QNW5, O08642, Q3TPU0, Q8BNF4, Q8BSR9, Q9QXJ1
      UniProtKB/TrEMBL
      A0A0R4J2C6
      Related
      ENSMUSP00000140979.2, ENSMUST00000189378.7
      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
    3. NM_001253887.2NP_001240816.1  amyloid beta precursor protein binding family B member 1 isoform 3

      See identical proteins and their annotated locations for NP_001240816.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC125227
      Consensus CDS
      CCDS80773.1
      UniProtKB/TrEMBL
      A0A087WR62, Q80Y77
      Related
      ENSMUSP00000140486.2, ENSMUST00000190369.7
      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_001310600.2NP_001297529.1  amyloid beta precursor protein binding family B member 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC125227
      Consensus CDS
      CCDS80774.1
      UniProtKB/TrEMBL
      A0A087WPS7
      Related
      ENSMUSP00000139899.2, ENSMUST00000187057.7
      Conserved Domains (3) summary
      cd01271
      Location:310435
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:145282
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
      pfam00397
      Location:3260
      WW; WW domain
    5. NM_001411958.1NP_001398887.1  amyloid beta precursor protein binding family B member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125227
      UniProtKB/TrEMBL
      A0A0R4J2C6
    6. NM_001411959.1NP_001398888.1  amyloid beta precursor protein binding family B member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125227
    7. NM_001411960.1NP_001398889.1  amyloid beta precursor protein binding family B member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125227
    8. NM_001411961.1NP_001398890.1  amyloid beta precursor protein binding family B member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125227
    9. NM_001411962.1NP_001398891.1  amyloid beta precursor protein binding family B member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125227
    10. NM_001411964.1NP_001398893.1  amyloid beta precursor protein binding family B member 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC125227
    11. NM_009685.4NP_033815.1  amyloid beta precursor protein binding family B member 1 isoform 2

      See identical proteins and their annotated locations for NP_033815.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1. Variants 2, 4, and 6 all encode the same isoform (2).
      Source sequence(s)
      AC125227
      Consensus CDS
      CCDS80775.1
      UniProtKB/Swiss-Prot
      E9QNW5, O08642, Q3TPU0, Q8BNF4, Q8BSR9, Q9QXJ1
      UniProtKB/TrEMBL
      A0A0R4J2C6
      Related
      ENSMUSP00000140973.2, ENSMUST00000191011.7
      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_177986.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC125227

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      105207691..105231151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507230.3XP_006507293.1  amyloid beta precursor protein binding family B member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507293.1

      UniProtKB/Swiss-Prot
      E9QNW5, O08642, Q3TPU0, Q8BNF4, Q8BSR9, Q9QXJ1
      UniProtKB/TrEMBL
      A0A0R4J2C1
      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. XM_006507231.1XP_006507294.1  amyloid beta precursor protein binding family B member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507294.1

      UniProtKB/Swiss-Prot
      E9QNW5, O08642, Q3TPU0, Q8BNF4, Q8BSR9, Q9QXJ1
      UniProtKB/TrEMBL
      A0A0R4J2C1
      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
    3. XM_006507236.4XP_006507299.1  amyloid beta precursor protein binding family B member 1 isoform X6

      See identical proteins and their annotated locations for XP_006507299.1

      UniProtKB/TrEMBL
      A0A087WR62, Q80Y77
      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. XM_006507235.4XP_006507298.1  amyloid beta precursor protein binding family B member 1 isoform X6

      See identical proteins and their annotated locations for XP_006507298.1

      UniProtKB/TrEMBL
      A0A087WR62, Q80Y77
      Related
      ENSMUSP00000139575.2, ENSMUST00000189072.7
      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. XM_036152596.1XP_036008489.1  amyloid beta precursor protein binding family B member 1 isoform X6

      UniProtKB/TrEMBL
      A0A087WR62, Q80Y77
      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
    6. XM_006507234.4XP_006507297.1  amyloid beta precursor protein binding family B member 1 isoform X6

      See identical proteins and their annotated locations for XP_006507297.1

      UniProtKB/TrEMBL
      A0A087WR62, Q80Y77
      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
    7. XM_017321947.3XP_017177436.1  amyloid beta precursor protein binding family B member 1 isoform X5

      UniProtKB/TrEMBL
      A0A087WPI2
      Related
      ENSMUSP00000139788.2, ENSMUST00000188368.7
      Conserved Domains (3) summary
      cd01271
      Location:312437
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:145284
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
      pfam00397
      Location:3260
      WW; WW domain
    8. XM_036152595.1XP_036008488.1  amyloid beta precursor protein binding family B member 1 isoform X4

      Conserved Domains (3) summary
      cd01271
      Location:333458
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:168305
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
      pfam00397
      Location:5583
      WW; WW domain
    9. XM_006507232.5XP_006507295.1  amyloid beta precursor protein binding family B member 1 isoform X3

      Conserved Domains (3) summary
      cd01271
      Location:335460
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:168307
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
      pfam00397
      Location:5583
      WW; WW domain
    10. XM_036152597.1XP_036008490.1  amyloid beta precursor protein binding family B member 1 isoform X7

      UniProtKB/TrEMBL
      Q80Y77
      Conserved Domains (3) summary
      cd01271
      Location:274399
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:109246
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
      pfam00397
      Location:524
      WW; WW domain