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

    Gene ID: 8650, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein numb homolog
    Names
    h-Numb
    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.

    Genomic

    1. NG_029061.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001005743.2NP_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:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258338
      NumbF; NUMB domain
    2. NM_001005744.2NP_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:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258338
      NumbF; NUMB domain
    3. NM_001005745.2NP_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:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247327
      NumbF; NUMB domain
    4. NM_001320114.2NP_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:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258338
      NumbF; NUMB domain
    5. NM_003744.6NP_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:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247327
      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)