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

Gene ID: 8650, updated on 17-Jun-2019

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
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

Genomic context

See NUMB in Genome Data Viewer
Location:
14q24.2-q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73275210..73458580, 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 uncharacterized LOC101928123 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene papilin, proteoglycan like sulfated glycoprotein Neighboring gene uncharacterized LOC101928143 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...
  • 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 WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • 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)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 HDA PubMed 
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adherens junction organization IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
lateral ventricle development ISS
Inferred from Sequence or Structural Similarity
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
 
regulation of postsynaptic neurotransmitter receptor internalization 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 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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)

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/Swiss-Prot
    P49757
    UniProtKB/TrEMBL
    A0A024R6F4
    Related
    ENSP00000451300.1, ENST00000555238.5
    Conserved Domains (2) summary
    cd01268
    Location:23168
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:258338
    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. Variants 2 and 5 both encode the same protein.
    Source sequence(s)
    AA872908, AF171939, BC068476
    Consensus CDS
    CCDS32115.1
    UniProtKB/Swiss-Prot
    P49757
    UniProtKB/TrEMBL
    A0A024R681
    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_001005745.1NP_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/Swiss-Prot
    P49757
    UniProtKB/TrEMBL
    A0A024R684
    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_001320114.1NP_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/Swiss-Prot
    P49757
    UniProtKB/TrEMBL
    A0A024R681
    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_003744.5NP_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/Swiss-Prot
    P49757
    UniProtKB/TrEMBL
    A0A024R6C4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    73275210..73458580 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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