• Gene id: 9253

Gene Summary

• Gene Symbol: NUMBL   Gene   UCSC   Ensembl
• Aliases: CAG3A, CTG3a, NBL, NUMB-R, NUMBLIKE, NUMBR, TNRC23
• Gene name: NUMB like endocytic adaptor protein
• Alternate names: numb-like protein, numb homolog-like, numb-related protein,
• Gene location: 19q13.2 (40690650: 40665904)     Exons: 11     NC_000019.10
• OMIM: 604018

Protein Summary

• Protein general information: Q9Y6R0  
  • Name: Numb like protein (Numb related protein) (Numb R)
  • Length: 609  
  • Mass: 64891
• Sequence:

  MSRSAAASGGPRRPERHLPPAPCGAPGPPETCRTEPDGAGTMNKLRQSLRRRKPAYVPEASRPHQWQADEDAVRK
  GTCSFPVRYLGHVEVEESRGMHVCEDAVKKLKAMGRKSVKSVLWVSADGLRVVDDKTKDLLVDQTIEKVSFCAPD
  RNLDKAFSYICRDGTTRRWICHCFLALKDSGERLSHAVGCAFAACLERKQRREKECGVTAAFDASRTSFAREGSF
  RLSGGGRPAEREAPDKKKAEAAAAPTVAPGPAQPGHVSPTPATTSPGEKGEAGTPVAAGTTAAAIPRRHAPLEQL
  VRQGSFRGFPALSQKNSPFKRQLSLRLNELPSTLQRRTDFQVKGTVPEMEPPGAGDSDSINALCTQISSSFASAG
  APAPGPPPATTGTSAWGEPSVPPAAAFQPGHKRTPSEAERWLEEVSQVAKAQQQQQQQQQQQQQQQQQQQQAASV
  APVPTMPPALQPFPAPVGPFDAAPAQVAVFLPPPHMQPPFVPAYPGLGYPPMPRVPVVGITPSQMVANAFCSAAQ
  LQPQPATLLGKAGAFPPPAIPSAPGSQARPRPNGAPWPPEPAPAPAPELDPFEAQWAALEGKATVEKPSNPFSGD
  LQKTFEIEL

• Structural information:
  • Protein Domains: (74..22-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR016698  IPR010449  IPR011993  IPR006020  
  • Prosite: PS01179
  • PDB: 3F0W
  • PDBsum: 3F0W
  • STRING: ENSP00000252891
• Other Databases: GeneCards:  NUMBL  Malacards:  NUMBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045296	cadherin binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0019538	protein metabolic process	IDA	biological process
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0034332	adherens junction organization	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq