U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 11785, updated on 18-Apr-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 visual learning. 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, Apr 2022]
Expression
Broad expression in cortex adult (RPKM 63.0), cerebellum adult (RPKM 56.3) and 19 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

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 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 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 transcription factor binding IBA
Inferred from Biological aspect of Ancestor
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 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
 
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within axon guidance IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within 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
 
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 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 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
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 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 main axon ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
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
 
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 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
 

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