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    NUMB numb homolog (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 8650, updated on 26-Jul-2015
    Official Symbol
    NUMBprovided by HGNC
    Official Full Name
    numb homolog (Drosophila)provided by HGNC
    Primary source
    HGNC:HGNC:8060
    See related
    Ensembl:ENSG00000133961; HPRD:04767; MIM:603728; Vega:OTTHUMG00000171436
    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. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    See NUMB in Epigenomics, MapViewer
    Location:
    14q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (73275154..73458582, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73741858..73925288, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene presenilin 1 Neighboring gene uncharacterized LOC101928123 Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene uncharacterized LOC101928143 Neighboring gene uncharacterized LOC105370561 Neighboring gene chromosome 14 open reading frame 169 Neighboring gene HEAT repeat containing 4 Neighboring gene acyl-CoA thioesterase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    NHGRI GWA Catalog
    Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
    NHGRI GWA Catalog
    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Degradation of GLI1 by the proteasome, organism-specific biosystem (from REACTOME)
      Degradation of GLI1 by the proteasome, organism-specific biosystemGLI1 is the most divergent of the 3 mammalian GLI transcription factors and lacks a transcriptional repressor domain. Although GLI1 is dispensible for development, the gene is an early transcription...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Recycling pathway of L1, organism-specific biosystem (from REACTOME)
      Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    adherens junction organization IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    lateral ventricle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuroblast division in subventricular zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of polarized epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    extrinsic component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    protein numb homolog
    Names
    h-Numb

    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
      5001..188371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005743.1NP_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/TrEMBL
      A0A024R6F4
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000451300, OTTHUMP00000246581, ENST00000555238, OTTHUMT00000414416
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    2. NM_001005744.1NP_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.
      Source sequence(s)
      AA872908, AF171939, BC068476
      Consensus CDS
      CCDS32115.1
      UniProtKB/TrEMBL
      A0A024R681
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000451625, OTTHUMP00000246583, ENST00000555394, OTTHUMT00000414418
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    3. NM_001005745.1NP_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
      A0A024R684
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000452416, OTTHUMP00000246017, ENST00000554546, OTTHUMT00000413385
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247328
      NumbF; NUMB domain
    4. NM_003744.5NP_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
      A0A024R6C4
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000451117, OTTHUMP00000246580, ENST00000557597, OTTHUMT00000414415
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247328
      NumbF; NUMB domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      73275154..73458582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268146.3XP_005268203.1  

      See identical proteins and their annotated locations for XP_005268203.1

      UniProtKB/TrEMBL
      A0A024R681
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    2. XM_005268142.3XP_005268199.1  

      See identical proteins and their annotated locations for XP_005268199.1

      UniProtKB/TrEMBL
      A0A024R6F4
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    3. XM_011537264.1XP_011535566.1  

      See identical proteins and their annotated locations for XP_011535566.1

      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:176230
      NumbF; NUMB domain
    4. XM_011537259.1XP_011535561.1  

      See identical proteins and their annotated locations for XP_011535561.1

      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:244325
      NumbF; NUMB domain
    5. XM_011537263.1XP_011535565.1  

      See identical proteins and their annotated locations for XP_011535565.1

      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000446001, ENST00000544991
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:187241
      NumbF; NUMB domain
    6. XM_011537262.1XP_011535564.1  

      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:187241
      NumbF; NUMB domain
    7. XM_011537261.1XP_011535563.1  

      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:255336
      NumbF; NUMB domain
    8. XM_011537256.1XP_011535558.1  

      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:255336
      NumbF; NUMB domain
    9. XM_011537257.1XP_011535559.1  

      See identical proteins and their annotated locations for XP_011535559.1

      UniProtKB/TrEMBL
      A0A024R6C4
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247328
      NumbF; NUMB domain
    10. XM_005268145.3XP_005268202.1  

      See identical proteins and their annotated locations for XP_005268202.1

      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:244325
      NumbF; NUMB domain
    11. XM_005268144.3XP_005268201.1  

      See identical proteins and their annotated locations for XP_005268201.1

      UniProtKB/TrEMBL
      A0A024R6C4
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247328
      NumbF; NUMB domain
    12. XM_011537258.1XP_011535560.1  

      See identical proteins and their annotated locations for XP_011535560.1

      UniProtKB/TrEMBL
      A0A024R6C4
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000352563, ENST00000359560
      Conserved Domains (2) summary
      cd01268
      Location:23157
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:247328
      NumbF; NUMB domain
    13. XM_011537255.1XP_011535557.1  

      See identical proteins and their annotated locations for XP_011535557.1

      UniProtKB/TrEMBL
      A0A024R6F4
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000347169, ENST00000355058
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    14. XM_011537254.1XP_011535556.1  

      See identical proteins and their annotated locations for XP_011535556.1

      UniProtKB/TrEMBL
      A0A024R6F4
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    15. XM_011537253.1XP_011535555.1  

      See identical proteins and their annotated locations for XP_011535555.1

      UniProtKB/TrEMBL
      A0A024R6F4
      UniProtKB/Swiss-Prot
      P49757
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain
    16. XM_011537260.1XP_011535562.1  

      See identical proteins and their annotated locations for XP_011535562.1

      UniProtKB/TrEMBL
      A0A024R681
      UniProtKB/Swiss-Prot
      P49757
      Related
      ENSP00000348644, OTTHUMP00000246579, ENST00000356296, OTTHUMT00000414414
      Conserved Domains (2) summary
      cd01268
      Location:23168
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:258339
      NumbF; NUMB domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      73681206..73864710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)