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    Numb NUMB endocytic adaptor protein [ Mus musculus (house mouse) ]

    Gene ID: 18222, updated on 12-Sep-2021

    Summary

    Official Symbol
    Numbprovided by MGI
    Official Full Name
    NUMB endocytic adaptor proteinprovided by MGI
    Primary source
    MGI:MGI:107423
    See related
    Ensembl:ENSMUSG00000021224
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nb; m-num
    Summary
    This gene encodes a conserved protein that is distributed asymmetrically during cell division in the developing embryo. The encoded protein participates in cell fate decisions by interacting with the Notch receptor. Loss of function of this gene results in severe defects in neural development and loss of viability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in lung adult (RPKM 38.2), duodenum adult (RPKM 27.9) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Numb in Genome Data Viewer
    Location:
    12; 12 D1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (83840808..83968713, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (83794034..83921942, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (85136389..85183293, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene presenilin 1 Neighboring gene farnesyl diphosphate synthetase pseudogene Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene predicted gene, 46367 Neighboring gene endothelin converting enzyme 2 pseudogene Neighboring gene predicted gene, 31386 Neighboring gene HEAT repeat containing 4 Neighboring gene ribosomal oxygenase 1 Neighboring gene acyl-CoA thioesterase 2

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within adherens junction organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within axonogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lateral ventricle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
     
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in negative regulation of protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuroblast division in subventricular zone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuroblast proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of dendrite morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of polarized epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in regulation of neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynaptic specialization assembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    NOT located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein numb homolog
    Names
    numb gene homolog
    numb homolog

    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_001136075.2NP_001129547.1  protein numb homolog isoform 1

      See identical proteins and their annotated locations for NP_001129547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as p72 or PTBL-PRRL).
      Source sequence(s)
      AC132954, AF169192, AK004553
      Consensus CDS
      CCDS49108.1
      UniProtKB/Swiss-Prot
      Q9QZS3
      Related
      ENSMUSP00000119303.2, ENSMUST00000129335.8
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain
    2. NM_001272055.1NP_001258984.1  protein numb homolog isoform 3

      See identical proteins and their annotated locations for NP_001258984.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3, also known as p71 or PTBS-PRRL) is shorter than isoform 1.
      Source sequence(s)
      AC132954, AF169191, AK004553
      Consensus CDS
      CCDS70401.1
      UniProtKB/Swiss-Prot
      Q9QZS3
      Related
      ENSMUSP00000117899.2, ENSMUST00000154043.8
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:249327
      NumbF; NUMB domain
    3. NM_001272056.1NP_001258985.1  protein numb homolog isoform 4

      See identical proteins and their annotated locations for NP_001258985.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (4, also known as p65 or PTBS-PRRS) is shorter than isoform 1.
      Source sequence(s)
      AC132954, AK004553
      Consensus CDS
      CCDS70400.1
      UniProtKB/Swiss-Prot
      Q9QZS3
      Related
      ENSMUSP00000113591.2, ENSMUST00000117217.8
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247327
      NumbF; NUMB domain
    4. NM_010949.2NP_035079.1  protein numb homolog isoform 2

      See identical proteins and their annotated locations for NP_035079.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as p66 or PTBL-PRRS) is shorter than isoform 1.
      Source sequence(s)
      AC132954, AF170709, AK004553
      Consensus CDS
      CCDS26032.1
      UniProtKB/Swiss-Prot
      Q9QZS3
      Related
      ENSMUSP00000021647.8, ENSMUST00000021647.14
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain

    RNA

    1. NR_073563.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains three additional 5' exons and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132954, AK004553, BY129388
      Related
      ENSMUST00000110298.9
    2. NR_073564.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains three additional 5' exons and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132954, AK004553, BC050108, BY129388
      Related
      ENSMUST00000085215.11

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      83840808..83968713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515578.3XP_006515641.1  protein numb homolog isoform X6

      See identical proteins and their annotated locations for XP_006515641.1

      UniProtKB/Swiss-Prot
      Q9QZS3
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:249327
      NumbF; NUMB domain
    2. XM_036157246.1XP_036013139.1  protein numb homolog isoform X7

      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain
    3. XM_006515576.3XP_006515639.1  protein numb homolog isoform X5

      See identical proteins and their annotated locations for XP_006515639.1

      UniProtKB/Swiss-Prot
      Q9QZS3
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain
    4. XM_006515575.3XP_006515638.2  protein numb homolog isoform X4

      Conserved Domains (2) summary
      cd01268
      Location:110244
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:336414
      NumbF; NUMB domain
    5. XM_006515573.3XP_006515636.2  protein numb homolog isoform X2

      Conserved Domains (2) summary
      cd01268
      Location:110244
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:336414
      NumbF; NUMB domain
    6. XM_006515574.3XP_006515637.2  protein numb homolog isoform X3

      Conserved Domains (2) summary
      cd01268
      Location:110255
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:347425
      NumbF; NUMB domain
    7. XM_006515572.2XP_006515635.2  protein numb homolog isoform X1

      Conserved Domains (2) summary
      cd01268
      Location:110255
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:347425
      NumbF; NUMB domain
    8. XM_011244012.3XP_011242314.1  protein numb homolog isoform X5

      See identical proteins and their annotated locations for XP_011242314.1

      UniProtKB/Swiss-Prot
      Q9QZS3
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain
    9. XM_006515577.4XP_006515640.1  protein numb homolog isoform X5

      See identical proteins and their annotated locations for XP_006515640.1

      UniProtKB/Swiss-Prot
      Q9QZS3
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:260338
      NumbF; NUMB domain
    10. XM_036157248.1XP_036013141.1  protein numb homolog isoform X9

      Conserved Domains (2) summary
      pfam06311
      Location:190268
      NumbF; NUMB domain
      cl17171
      Location:698
      PH-like; Pleckstrin homology-like domain
    11. XM_036157247.1XP_036013140.1  protein numb homolog isoform X8

      Conserved Domains (2) summary
      pfam06311
      Location:190268
      NumbF; NUMB domain
      cl17171
      Location:698
      PH-like; Pleckstrin homology-like domain
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