Human Gene NUMBL (uc002oon.3)
  Description: Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:41,171,812-41,196,556 Size: 24,745 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr19:41,173,373-41,196,388 Size: 23,016 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:41,171,812-41,196,556)mRNA (may differ from genome)Protein (609 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NUMBL_HUMAN
DESCRIPTION: RecName: Full=Numb-like protein; AltName: Full=Numb-related protein; Short=Numb-R;
FUNCTION: Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF- kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination and degradation of TRAF6 in cortical neurons.
SUBUNIT: Interacts (via PTB domain) with MAP3K7IP2 (via C- terminal). Interacts (via C-terminal) with TRAF6 (via TRAF domains). Associates with EPS15 and NOTCH1.
INTERACTION: Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-945925, EBI-945906;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Note=Symmetrically distributed throughout the cytoplasm in non dividing neuroblasts of the CNS (By similarity).
DOMAIN: The PTB domain is necessary for the inhibition of MAP3K7IP2-mediated activation of NF-kappa-B.
SIMILARITY: Contains 1 PID domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NUMBL
CDC HuGE Published Literature: NUMBL

-  MalaCards Disease Associations
  MalaCards Gene Search: NUMBL
Diseases sorted by gene-association score: autonomic nervous system neoplasm (11), peripheral nervous system neoplasm (9), trichinosis (7), nervous system cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.63 RPKM in Pituitary
Total median expression: 886.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.20168-0.573 Picture PostScript Text
3' UTR -570.891561-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016698 - Numb/numb-like
IPR010449 - Numb_domain
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom

Pfam Domains:
PF00640 - Phosphotyrosine interaction domain (PTB/PID)
PF06311 - NUMB domain
PF08416 - Phosphotyrosine-binding domain

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3F0W - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y6R0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007405 neuroblast proliferation
GO:0007409 axonogenesis
GO:0019221 cytokine-mediated signaling pathway
GO:0019538 protein metabolic process
GO:0021670 lateral ventricle development
GO:0021849 neuroblast division in subventricular zone
GO:0030900 forebrain development
GO:0034332 adherens junction organization
GO:0050769 positive regulation of neurogenesis

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF015041 - Homo sapiens NUMB-R protein (NUMB-R) mRNA, complete cds.
BC001794 - Homo sapiens numb homolog (Drosophila)-like, mRNA (cDNA clone IMAGE:3353369).
JD191950 - Sequence 172974 from Patent EP1572962.
JD408769 - Sequence 389793 from Patent EP1572962.
JD405049 - Sequence 386073 from Patent EP1572962.
JD112763 - Sequence 93787 from Patent EP1572962.
AK289398 - Homo sapiens cDNA FLJ75100 complete cds, highly similar to Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.
JD157491 - Sequence 138515 from Patent EP1572962.
BC144583 - Homo sapiens cDNA clone IMAGE:9053113.
JD316413 - Sequence 297437 from Patent EP1572962.
JD457847 - Sequence 438871 from Patent EP1572962.
AK299484 - Homo sapiens cDNA FLJ53174 complete cds, highly similar to Numb-like protein.
JD386591 - Sequence 367615 from Patent EP1572962.
JD443473 - Sequence 424497 from Patent EP1572962.
BT009807 - Homo sapiens numb homolog (Drosophila)-like mRNA, complete cds.
BC167835 - Synthetic construct Homo sapiens clone IMAGE:100068225, MGC:195842 numb homolog (Drosophila)-like (NUMBL) mRNA, encodes complete protein.
KJ901959 - Synthetic construct Homo sapiens clone ccsbBroadEn_11353 NUMBL gene, encodes complete protein.
U80758 - Homo sapiens CTG3a mRNA, partial cds.
BC016160 - Homo sapiens numb homolog (Drosophila)-like, mRNA (cDNA clone IMAGE:3503073), **** WARNING: chimeric clone ****.
AK096566 - Homo sapiens cDNA FLJ39247 fis, clone OCBBF2008520.
JD118879 - Sequence 99903 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04330 - Notch signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: NM_004756, NP_004747, NUMBL_HUMAN, Q7Z4J9, Q9Y6R0
UCSC ID: uc002oon.3
RefSeq Accession: NM_004756
Protein: Q9Y6R0 (aka NUMBL_HUMAN or NMBL_HUMAN)
CCDS: CCDS12561.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004756.3
exon count: 10CDS single in 3' UTR: no RNA size: 3561
ORF size: 1830CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3345.00frame shift in genome: no % Coverage: 99.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.