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    NUMB NUMB endocytic adaptor protein [ Homo sapiens (human) ]

    Gene ID: 8650, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NUMBprovided by HGNC
    Official Full Name
    NUMB endocytic adaptor proteinprovided by HGNC
    Primary source
    HGNC:HGNC:8060
    See related
    Ensembl:ENSG00000133961 MIM:603728; AllianceGenome:HGNC:8060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S171; C14orf41; c14_5527
    Summary
    The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in lung (RPKM 25.7), gall bladder (RPKM 21.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUMB in Genome Data Viewer
    Location:
    14q24.2-q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73275216..73458546, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67480648..67666518, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73741924..73925252, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73713969-73714470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73721535-73722035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73725609-73726296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73726297-73726982 Neighboring gene PAPLN antisense RNA 1 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene papilin, proteoglycan like sulfated glycoprotein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73743236-73743736 Neighboring gene NANOG hESC enhancer GRCh37_chr14:73864401-73864904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73925581-73926114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73926115-73926648 Neighboring gene uncharacterized LOC101928143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73956718-73957623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73958602-73959102 Neighboring gene HEAT repeat containing 4 Neighboring gene ribosomal oxygenase 1 Neighboring gene acyl-CoA thioesterase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Alternative splicing of the cell fate determinant Numb in hepatocellular carcinoma. Lu Y, et al. Hepatology, 2015 Oct. PMID 26058814, Free PMC Article
    2. Genetic variants of numb gene were associated with elevated total cholesterol level and low density lipoprotein cholesterol level in Chinese subjects, in Xinjiang, China. Abudoukelimu M, et al. Diagn Pathol, 2015 Aug 12. PMID 26264115, Free PMC Article
    3. Aberrant phosphorylation inactivates Numb in breast cancer causing expansion of the stem cell pool. Filippone MG, et al. J Cell Biol, 2022 Dec 5. PMID 36200956, Free PMC Article
    4. Distinct human NUMB isoforms regulate differentiation vs. proliferation in the neuronal lineage. Verdi JM, et al. Proc Natl Acad Sci U S A, 1999 Aug 31. PMID 10468633, Free PMC Article
    5. A NUMB-EFA6B-ARF6 recycling route controls apically restricted cell protrusions and mesenchymal motility. Zobel M, et al. J Cell Biol, 2018 Sep 3. PMID 30061108, Free PMC Article

    See all (237) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Zika Virus Induces Degradation of the Numb Protein Required through Embryonic Neurogenesis.
      Title: Zika Virus Induces Degradation of the Numb Protein Required through Embryonic Neurogenesis.
    2. Aberrant phosphorylation inactivates Numb in breast cancer causing expansion of the stem cell pool.
      Title: Aberrant phosphorylation inactivates Numb in breast cancer causing expansion of the stem cell pool.
    3. Notch, Numb and Numb-like responses to exercise-induced muscle damage in human skeletal muscle.
      Title: Notch, Numb and Numb-like responses to exercise-induced muscle damage in human skeletal muscle.
    4. miR-146a-5p Promotes Chondrocyte Apoptosis and Inhibits Autophagy of Osteoarthritis by Targeting NUMB.
      Title: miR-146a-5p Promotes Chondrocyte Apoptosis and Inhibits Autophagy of Osteoarthritis by Targeting NUMB.
    5. NUMB as a Therapeutic Target for Melanoma.
      Title: NUMB as a Therapeutic Target for Melanoma.
    6. Prognostic Biomarker NUMB Is Inhibited by Breast Cancer Cell Exosomes to Promote Breast Cancer Progression.
      Title: Prognostic Biomarker NUMB Is Inhibited by Breast Cancer Cell Exosomes to Promote Breast Cancer Progression.
    7. Numb-PRRL promotes TGF-beta1- and EGF-induced epithelial-to-mesenchymal transition in pancreatic cancer.
      Title: Numb-PRRL promotes TGF-β1- and EGF-induced epithelial-to-mesenchymal transition in pancreatic cancer.
    8. 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.
    9. Numb inhibits migration and promotes proliferation of colon cancer cells via RhoA/ROCK signaling pathway repression.
      Title: Numb inhibits migration and promotes proliferation of colon cancer cells via RhoA/ROCK signaling pathway repression.
    10. Loss of Numb promotes hepatic progenitor expansion and intrahepatic cholangiocarcinoma by enhancing Notch signaling.
      Title: Loss of Numb promotes hepatic progenitor expansion and intrahepatic cholangiocarcinoma by enhancing Notch signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (107)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-catenin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adherens junction organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lateral ventricle development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuroblast division in subventricular zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein numb homolog
    Names
    h-Numb
    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.

    Genomic

    1. NG_029061.2 RefSeqGene

      Range
      5035..188365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005743.2 → NP_001005743.1  protein numb homolog isoform 1

      See identical proteins and their annotated locations for NP_001005743.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA872908, AF171938, BC068476
      Consensus CDS
      CCDS32116.1
      UniProtKB/Swiss-Prot
      B1P2N5, B1P2N6, B1P2N7, B1P2N8, B1P2N9, B4E2B1, P49757, Q6NUQ7, Q86SY1, Q8WW73, Q9UBG1, Q9UEQ4, Q9UKE8, Q9UKE9, Q9UKF0, Q9UQJ4
      UniProtKB/TrEMBL
      B2RCI6
      Related
      ENSP00000451300.1, ENST00000555238.6
      Conserved Domains (2) summary
      cd01268
      Location:23 → 168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258 → 338
      NumbF; NUMB domain

    2. NM_001005744.2 → NP_001005744.1  protein numb homolog isoform 2

      See identical proteins and their annotated locations for NP_001005744.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 both encode the same protein.
      Source sequence(s)
      AA872908, AF171939, BC068476
      Consensus CDS
      CCDS32115.1
      UniProtKB/TrEMBL
      B2RCI6
      Related
      ENSP00000451625.1, ENST00000555394.5
      Conserved Domains (2) summary
      cd01268
      Location:23 → 168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258 → 338
      NumbF; NUMB domain

    3. NM_001005745.2 → NP_001005745.1  protein numb homolog isoform 4

      See identical proteins and their annotated locations for NP_001005745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA872908, AF171941, BC068476
      Consensus CDS
      CCDS55927.1
      UniProtKB/TrEMBL
      B2RCI6
      Related
      ENSP00000452416.1, ENST00000554546.5
      Conserved Domains (2) summary
      cd01268
      Location:23 → 157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247 → 327
      NumbF; NUMB domain

    4. NM_001320114.2 → NP_001307043.1  protein numb homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Both variants 2 and 5 encode the same protein.
      Source sequence(s)
      AA872908, AF171939, BC068476, BX647137
      Consensus CDS
      CCDS32115.1
      UniProtKB/TrEMBL
      B2RCI6
      Related
      ENSP00000348644.4, ENST00000356296.8
      Conserved Domains (2) summary
      cd01268
      Location:23 → 168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258 → 338
      NumbF; NUMB domain

    5. NM_003744.6 → NP_003735.3  protein numb homolog isoform 3

      See identical proteins and their annotated locations for NP_003735.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA872908, AF171940, BC068476
      Consensus CDS
      CCDS9814.1
      UniProtKB/TrEMBL
      B2RCI6
      Related
      ENSP00000451117.1, ENST00000557597.5
      Conserved Domains (2) summary
      cd01268
      Location:23 → 157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247 → 327
      NumbF; NUMB domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      73275216..73458546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67480648..67666518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49757.2 GenPept UniProtKB/Swiss-Prot:P49757

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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