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

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: human all
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Genomic context

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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Septin 7 interacts with Numb to preserve sarcomere structural organization and muscle contractile function.
Title: Septin 7 interacts with Numb to preserve sarcomere structural organization and muscle contractile function.
Numb regulates Tau levels and prevents neurodegeneration in tauopathy mouse models.
Title: Numb regulates Tau levels and prevents neurodegeneration in tauopathy mouse models.
NUMB facilitates autophagy initiation through targeting SCF(beta-TrCP2) complex.
Title: NUMB facilitates autophagy initiation through targeting SCF(β-TrCP2) complex.
Numb Promotes Autophagy through p53 Pathway in Acute Kidney Injury Induced by Cisplatin.
Title: Numb Promotes Autophagy through p53 Pathway in Acute Kidney Injury Induced by Cisplatin.
NUMB as a Therapeutic Target for Melanoma.
Title: NUMB as a Therapeutic Target for Melanoma.
Numb deficiency impairs retinal structure and visual function in mice.
Title: Numb deficiency impairs retinal structure and visual function in mice.
Exclusion of NUMB Exon12 Controls Cancer Cell Migration through Regulation of Notch1-SMAD3 Crosstalk.
Title: Exclusion of NUMB Exon12 Controls Cancer Cell Migration through Regulation of Notch1-SMAD3 Crosstalk.
MAD2B promotes podocyte injury through regulating Numb-dependent Notch 1 pathway in diabetic nephropathy.
Title: MAD2B promotes podocyte injury through regulating Numb-dependent Notch 1 pathway in diabetic nephropathy.
Numb exon 9 inclusion regulates Integrinbeta5 surface expression and promotes breast cancer metastasis.
Title: Numb exon 9 inclusion regulates Integrinβ5 surface expression and promotes breast cancer metastasis.
Numb and Numblike regulate sarcomere assembly and maintenance.
Title: Numb and Numblike regulate sarcomere assembly and maintenance.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

PMC18761P1 (e-PCR)
- UniSTS:271731

AI407449 (e-PCR)
- UniSTS:261848

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
involved_in negative regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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
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	IEA Inferred from Electronic Annotation more info
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 membrane	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 plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001136075.3 → NP_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:23 → 168

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:260 → 338

NumbF; NUMB domain
NM_001272055.2 → NP_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:23 → 157

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:249 → 327

NumbF; NUMB domain
NM_001272056.1 → NP_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:23 → 157

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:247 → 327

NumbF; NUMB domain
NM_001411949.1 → NP_001398878.1 protein numb homolog isoform 1

Status: REVIEWED

Source sequence(s)

AC132954, AC133183

UniProtKB/Swiss-Prot

P70422, Q8CIB1, Q9DC57, Q9QZR1, Q9QZS3, Q9QZS4
NM_001411950.1 → NP_001398879.1 protein numb homolog isoform 2

Status: REVIEWED

Source sequence(s)

AC132954, AC133183
NM_001411951.1 → NP_001398880.1 protein numb homolog isoform 4

Status: REVIEWED

Source sequence(s)

AC132954, AC133183
NM_001411952.1 → NP_001398881.1 protein numb homolog isoform 3

Status: REVIEWED

Source sequence(s)

AC132954, AC133183

Related

ENSMUSP00000117899.2, ENSMUST00000154043.8
NM_010949.3 → NP_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:23 → 168

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:260 → 338

NumbF; NUMB domain

RNA

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
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

NC_000078.7 Reference GRCm39 C57BL/6J

Range

83840808..83968708 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244012.3 → XP_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:23 → 168

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:260 → 338

NumbF; NUMB domain
XM_006515577.4 → XP_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:23 → 168

PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain

pfam06311
Location:260 → 338

NumbF; NUMB domain
XM_036157248.1 → XP_036013141.1 protein numb homolog isoform X9

Conserved Domains (2) summary

pfam06311
Location:190 → 268

NumbF; NUMB domain

cl17171
Location:6 → 98

PH-like; Pleckstrin homology-like domain
XM_036157247.1 → XP_036013140.1 protein numb homolog isoform X8

Conserved Domains (2) summary

pfam06311
Location:190 → 268

NumbF; NUMB domain

cl17171
Location:6 → 98

PH-like; Pleckstrin homology-like domain