• Gene id: 8650

Gene Summary

• Gene Symbol: NUMB   Gene   UCSC   Ensembl
• Aliases: C14orf41, S171, c14_5527
• Gene name: NUMB endocytic adaptor protein
• Alternate names: protein numb homolog, h-Numb, numb homolog,
• Gene location: 14q24.2-q24.3 (229626215: 229660199)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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 w
• OMIM: 603728

Protein Summary

• Protein general information: P49757  
  • Name: Protein numb homolog (h Numb) (Protein S171)
  • Length: 651  
  • Mass: 70804
• Sequence:

  MNKLRQSFRRKKDVYVPEASRPHQWQTDEEGVRTGKCSFPVKYLGHVEVDESRGMHICEDAVKRLKAERKFFKGF
  FGKTGKKAVKAVLWVSADGLRVVDEKTKDLIVDQTIEKVSFCAPDRNFDRAFSYICRDGTTRRWICHCFMAVKDT
  GERLSHAVGCAFAACLERKQKREKECGVTATFDASRTTFTREGSFRVTTATEQAEREEIMKQMQDAKKAETDKIV
  VGSSVAPGNTAPSPSSPTSPTSDATTSLEMNNPHAIPRRHAPIEQLARQGSFRGFPALSQKMSPFKRQLSLRINE
  LPSTMQRKTDFPIKNAVPEVEGEAESISSLCSQITNAFSTPEDPFSSAPMTKPVTVVAPQSPTFQANGTDSAFHV
  LAKPAHTALAPVAMPVRETNPWAHAPDAANKEIAATCSGTEWGQSSGAASPGLFQAGHRRTPSEADRWLEEVSKS
  VRAQQPQASAAPLQPVLQPPPPTAISQPASPFQGNAFLTSQPVPVGVVPALQPAFVPAQSYPVANGMPYPAPNVP
  VVGITPSQMVANVFGTAGHPQAAHPHQSPSLVRQQTFPHYEASSATTSPFFKPPAQHLNGSAAFNGVDDGRLASA
  DRHTEVPTGTCPVDPFEAQWAALENKSKQRTNPSPTNPFSSDLQKTFEIEL

• Structural information:
  • Protein Domains: (33..19-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR016698  IPR010449  IPR011993  IPR006020  
  • Prosite: PS01179
  • PDB: 5NJJ 5NJK
  • PDBsum: 5NJJ 5NJK
  • DIP: 37981
  • STRING: ENSP00000451300
• Other Databases: GeneCards:  NUMB  Malacards:  NUMB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0045296	cadherin binding	IBA	molecular function
GO:0050769	positive regulation of neurogenesis	ISS	biological process
GO:0021849	neuroblast division in subventricular zone	ISS	biological process
GO:0021670	lateral ventricle development	ISS	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0021849	neuroblast division in subventricular zone	IEA	biological process
GO:0021670	lateral ventricle development	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0045296	cadherin binding	IEA	molecular function
GO:0045294	alpha-catenin binding	IEA	molecular function
GO:0045177	apical part of cell	IEA	cellular component
GO:0034332	adherens junction organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0019897	extrinsic component of plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0030335	positive regulation of cell migration	IGI	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq