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

Gene ID: 18222, updated on 8-Feb-2024

Summary

Official Symbol
Numbprovided by MGI
Official Full Name
NUMB endocytic adaptor proteinprovided by MGI
Primary source
MGI:MGI:107423
See related
Ensembl:ENSMUSG00000021224 AllianceGenome:MGI:107423
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
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
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Genomic context

See Numb in Genome Data Viewer
Location:
12 D1; 12 38.89 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (83840808..83968708, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (83794034..83921942, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7159 Neighboring gene presenilin 1 Neighboring gene STARR-positive B cell enhancer ABC_E3061 Neighboring gene farnesyl diphosphate synthetase pseudogene Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene STARR-seq mESC enhancer starr_32718 Neighboring gene predicted gene, 46367 Neighboring gene endothelin converting enzyme 2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E474 Neighboring gene predicted gene, 31386 Neighboring gene HEAT repeat containing 4 Neighboring gene ribosomal oxygenase 1 Neighboring gene STARR-seq mESC enhancer starr_32720 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)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

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 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 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 IBA
Inferred from Biological aspect of Ancestor
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 postsynapse assembly 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 
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 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein numb homolog
Names
numb gene homolog
numb homolog

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.

mRNA and Protein(s)

  1. NM_001136075.3NP_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, AC133183
    Consensus CDS
    CCDS49108.1
    UniProtKB/Swiss-Prot
    P70422, Q8CIB1, Q9DC57, Q9QZR1, Q9QZS3, Q9QZS4
    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_001272055.2NP_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, AC133183
    Consensus CDS
    CCDS70401.1
    UniProtKB/Swiss-Prot
    Q9QZS3
    Conserved Domains (2) summary
    cd01268
    Location:23157
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:249327
    NumbF; NUMB domain
  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_001411949.1NP_001398878.1  protein numb homolog isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC132954, AC133183
    UniProtKB/Swiss-Prot
    P70422, Q8CIB1, Q9DC57, Q9QZR1, Q9QZS3, Q9QZS4
  5. NM_001411950.1NP_001398879.1  protein numb homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC132954, AC133183
  6. NM_001411951.1NP_001398880.1  protein numb homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC132954, AC133183
  7. NM_001411952.1NP_001398881.1  protein numb homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC132954, AC133183
    Related
    ENSMUSP00000117899.2, ENSMUST00000154043.8
  8. NM_010949.3NP_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, AC133183
    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: 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_000078.7 Reference GRCm39 C57BL/6J

    Range
    83840808..83968708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244012.3XP_011242314.1  protein numb homolog isoform X5

    See identical proteins and their annotated locations for XP_011242314.1

    UniProtKB/Swiss-Prot
    P70422, Q8CIB1, Q9DC57, Q9QZR1, Q9QZS3, Q9QZS4
    Conserved Domains (2) summary
    cd01268
    Location:23168
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:260338
    NumbF; NUMB domain
  2. XM_006515577.4XP_006515640.1  protein numb homolog isoform X5

    See identical proteins and their annotated locations for XP_006515640.1

    UniProtKB/Swiss-Prot
    P70422, Q8CIB1, Q9DC57, Q9QZR1, Q9QZS3, Q9QZS4
    Conserved Domains (2) summary
    cd01268
    Location:23168
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:260338
    NumbF; NUMB domain
  3. 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
  4. 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