• Gene id: 8131

Gene Summary

• Gene Symbol: NPRL3   Gene   UCSC   Ensembl
• Aliases: C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11
• Gene name: NPR3 like, GATOR1 complex subunit
• Alternate names: GATOR complex protein NPRL3, -14 gene protein, alpha-globin regulatory element-containing gene protein, conserved gene telomeric to alpha globin cluster,
• Gene location: 16p13.3 (138697: 85385)     Exons: 15     NC_000016.10
• Gene summary(Entrez): The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]

Protein Summary

• Protein general information: Q12980  
  • Name: GATOR complex protein NPRL3 ( 14 gene protein) (Alpha globin regulatory element containing gene protein) (Nitrogen permease regulator 3 like protein) (Protein CGTHBA)
  • Length: 569  
  • Mass: 63605
  • Tissue specificity: Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed
• Sequence:

  MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILAT
  KSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIA
  TVLQHEERRCQYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWL
  EVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQ
  DADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLS
  EFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSP
  TSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHH
  LEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP

• Structural information:
  • Interpro: IPR005365  
  • PDB: 6CES 6CET
  • PDBsum: 6CES 6CET
  • DIP: 62051
  • STRING: ENSP00000483814
• Other Databases: GeneCards:  NPRL3  Malacards:  NPRL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000785	regulation of autophagosome assembly	IBA	biological process
GO:1990130	GATOR1 complex	IBA	cellular component
GO:0034198	cellular response to amino acid starvation	IBA	biological process
GO:0038202	TORC1 signaling	IBA	biological process
GO:0032007	negative regulation of TOR signaling	IBA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	contributes to
GO:1990130	GATOR1 complex	IDA	cellular component
GO:0032007	negative regulation of TOR signaling	IMP	biological process
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:0003281	ventricular septum development	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0034198	cellular response to amino acid starvation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Familial focal epilepsy with variable foci	KEGG:H02214
Familial focal epilepsy with variable foci	KEGG:H02214
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq