• Gene id: 8649

Gene Summary

• Gene Symbol: LAMTOR3   Gene   UCSC   Ensembl
• Aliases: MAP2K1IP1, MAPBP, MAPKSP1, MP1, PRO0633, Ragulator3
• Gene name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
• Alternate names: ragulator complex protein LAMTOR3, MAPK scaffold protein 1, MEK binding partner 1, late endosomal/lysosomal adaptor and MAPK and MTOR activator 3, mitogen-activated protein kinase kinase 1 interacting protein 1, mitogen-activated protein kinase scaffold protei,
• Gene location: 4q23 (99894545: 99878335)     Exons: 7     NC_000004.12
• Gene summary(Entrez): This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP
• OMIM: 603296

Protein Summary

• Protein general information: Q9UHA4  
  • Name: Ragulator complex protein LAMTOR3 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 3) (MEK binding partner 1) (Mp1) (Mitogen activated protein kinase kinase 1 interacting protein 1) (Mitogen activated protein kinase scaffold protein 1)
  • Length: 124  
  • Mass: 13623
• Sequence:

  MADDLKRFLYKKLPSVEGLHAIVVSDRDGVPVIKVANDNAPEHALRPGFLSTFALATDQGSKLGLSKNKSIICYY
  NTYQVVQFNRLPLVVSFIASSSANTGLIVSLEKELAPLFEELRQVVEVS

• Structural information:
  • Interpro: IPR015019  
  • PDB: 1SKO 2ZL1 3CPT 5X6U 5X6V 5Y39 5Y3A 6B9X 6EHP 6EHR 6NZD 6U62 6ULG
  • PDBsum: 1SKO 2ZL1 3CPT 5X6U 5X6V 5Y39 5Y3A 6B9X 6EHP 6EHR 6NZD 6U62 6ULG
  • STRING: ENSP00000424183
• Other Databases: GeneCards:  LAMTOR3  Malacards:  LAMTOR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071986	Ragulator complex	IBA	cellular component
GO:0071230	cellular response to amino acid stimulus	IBA	biological process
GO:0032008	positive regulation of TOR signaling	IBA	biological process
GO:0071986	Ragulator complex	IDA	cellular component
GO:0060090	molecular adaptor activity	IDA	contributes to
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0071230	cellular response to amino acid stimulus	IMP	biological process
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0034613	cellular protein localization	IMP	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0007050	cell cycle arrest	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	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: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: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:0005515	protein binding	IPI	molecular function
GO:1902414	protein localization to cell junction	IEA	biological process
GO:0019209	kinase activator activity	IEA	molecular function
GO:0005770	late endosome	IEA	cellular component
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881