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

Gene ID: 8650, updated on 1-Jun-2020

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
109.20200522 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 Functions

What'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 PubChem

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 pit 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 Updated 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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