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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
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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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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)

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

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