FertilityOnline | Spermatogenes

Detail Information of SG000089

General information

SG ID

SG000089

Gene Name

Mtor

Gene Synonyms/Alias

2610315D21Rik, AI327068, FRAP, FRAP2, Frap1, RAFT1, RAPT1, flat

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

ENSMUSG00000028991

Ensembl Protein ID

ENSMUSP00000099510 ENSMUSP00000054164

Description

Mechanistic target of rapamycin (serine/threonine kinase) [Mus musculus (house mouse)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	P42346	RGD:68371	Mtor
Gallus gallus	F1NUX4	Ensembl:ENSGALG00000003339	MTOR
Danio rerio	B0UX67	ZFIN:ZDB-GENE-030131-2974	mtor

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage

meiotic postmeiotic

Function in Cell Type

Spermatid Spermatocyte

The information of related literature

1. Abstract
The mammalian target of rapamycin (Mtor) gene encodes a serine/threonine kinase that acts as a master regulator of processes as diverse as cell growth, protein synthesis, cytoskeleton reorganization, and cell survival. In ... PMID: [27281705]

Figures for illustrating the function of this protein/gene

Boyer, A., Girard, M., Thimmanahalli, D. S., Levasseur, A., Celeste, C., Paquet, M., Duggavathi, R. and Boerboom, D. (2016) mTOR Regulates Gap Junction Alpha-1 Protein Trafficking in Sertoli Cells and Is Required for the Maintenance of Spermatogenesis in Mice. Biol Reprod 95(1): 13. PMID: [27281705]

Functional description

(Mtor) gene encodes a serine/threonine kinase that acts as a master regulator of processes as diverse as cell growth, protein synthesis, cytoskeleton reorganization, and cell survival. mTOR regulates gap junction alpha-1 protein distribution in Sertoli cells and is necessary for progression through the pachytene spermatocyte stage.

Protein complex

Complex name	Subunits(UniProt IDs)	Functional comment
FKBP12-FK506 complex	P26883 Q9JLN9	FRAP is the target of the FKBP12-rapamycin complex as well as a central component of a nutrient- and hormone-sensitive pathway that controls cellular growth (PMID:14560962).
Yy1-Ppargc1a-Frap1 complex	Q9JLN9 O70343 Q00899	mTOR controls mitochondrial oxidative function to maintain energy homeostasis in response to nutrient and hormonal signals through a YY1-Ppargc1a transcriptional complex. Results indicate that the nutrient sensor mTOR (Frap1) controls mitochondrial respiration by regulating the transcriptional function of the Yy1-Ppargc1a complex by directly altering the physical interaction of the two subunits.

Pathway

ReactomeID: R-MMU-8943724
Regulation of PTEN gene transcription

Human diseases

OMIM

Spermatogenesis failure

N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in testis
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatocyte
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Endoplasmic reticulum membrane

Mutation in human orthology

Variants founded in public databases

1000G (Phase 3): 4119 ESP6500 (SI-V2): 430 ExAC (r0.3.1): 2050 dbSNP(Build 147): 9393

Variants founded in in-house datasets

Chinese health control (254): 24 European health control (283): 3 Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
MTOR	0.0001159	0.000119222

Other information

Click the right sign for more information

Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0001932	regulation of protein phosphorylation	IDA
Biological Process	GO:0001933	negative regulation of protein phosphorylation	IEA
Biological Process	GO:0001934	positive regulation of protein phosphorylation	IMP
Biological Process	GO:0001938	positive regulation of endothelial cell proliferation	IEA
Biological Process	GO:0003007	heart morphogenesis	IMP
Biological Process	GO:0003179	heart valve morphogenesis	IMP
Biological Process	GO:0005979	regulation of glycogen biosynthetic process	IEA
Biological Process	GO:0006109	regulation of carbohydrate metabolic process	IEA
Biological Process	GO:0006112	energy reserve metabolic process	IMP
Biological Process	GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IDA
Biological Process	GO:0006468	protein phosphorylation	ISO
Biological Process	GO:0006950	response to stress	IEA
Biological Process	GO:0007281	germ cell development	IDA
Biological Process	GO:0007420	brain development	IEA
Biological Process	GO:0007569	cell aging	IEA
Biological Process	GO:0007616	long-term memory	IEA
Biological Process	GO:0008361	regulation of cell size	ISO
Biological Process	GO:0008542	visual learning	IEA
Biological Process	GO:0009791	post-embryonic development	IMP
Biological Process	GO:0010507	negative regulation of autophagy	ISO
Biological Process	GO:0010592	positive regulation of lamellipodium assembly	IDA
Biological Process	GO:0010628	positive regulation of gene expression	ISO
Biological Process	GO:0010718	positive regulation of epithelial to mesenchymal transition	ISO
Biological Process	GO:0010831	positive regulation of myotube differentiation	IGI
Biological Process	GO:0010942	positive regulation of cell death	IEA
Biological Process	GO:0010976	positive regulation of neuron projection development	IEA
Biological Process	GO:0014042	positive regulation of neuron maturation	IEA
Biological Process	GO:0014736	negative regulation of muscle atrophy	IEA
Biological Process	GO:0016049	cell growth	ISO
Biological Process	GO:0016242	negative regulation of macroautophagy	IEA
Biological Process	GO:0016310	phosphorylation	IEA
Biological Process	GO:0018105	peptidyl-serine phosphorylation	IMP
Biological Process	GO:0018107	peptidyl-threonine phosphorylation	IDA
Biological Process	GO:0021510	spinal cord development	IEA
Biological Process	GO:0030030	cell projection organization	IEA
Biological Process	GO:0030838	positive regulation of actin filament polymerization	IDA
Biological Process	GO:0031397	negative regulation of protein ubiquitination	IEA
Biological Process	GO:0031529	ruffle organization	IDA
Biological Process	GO:0031641	regulation of myelination	IMP
Biological Process	GO:0031669	cellular response to nutrient levels	IDA
Biological Process	GO:0031929	TOR signaling	ISO
Biological Process	GO:0031998	regulation of fatty acid beta-oxidation	IEA
Biological Process	GO:0032095	regulation of response to food	IEA
Biological Process	GO:0032868	response to insulin	IDA
Biological Process	GO:0032956	regulation of actin cytoskeleton organization	ISO
Biological Process	GO:0034198	cellular response to amino acid starvation	ISO
Biological Process	GO:0035176	social behavior	IEA
Biological Process	GO:0035264	multicellular organism growth	IMP
Biological Process	GO:0038202	TORC1 signaling	ISO
Biological Process	GO:0042060	wound healing	IEA
Biological Process	GO:0042220	response to cocaine	IEA
Biological Process	GO:0043087	regulation of GTPase activity	IMP
Biological Process	GO:0043200	response to amino acid	IDA
Biological Process	GO:0043278	response to morphine	IEA
Biological Process	GO:0043610	regulation of carbohydrate utilization	IEA
Biological Process	GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA
Biological Process	GO:0045670	regulation of osteoclast differentiation	IDA
Biological Process	GO:0045727	positive regulation of translation	ISO
Biological Process	GO:0045792	negative regulation of cell size	IEA
Biological Process	GO:0045859	regulation of protein kinase activity	IGI
Biological Process	GO:0045945	positive regulation of transcription from RNA polymerase III promoter	ISO
Biological Process	GO:0046777	protein autophosphorylation	IEA
Biological Process	GO:0046889	positive regulation of lipid biosynthetic process	ISS
Biological Process	GO:0048255	mRNA stabilization	IEA
Biological Process	GO:0048661	positive regulation of smooth muscle cell proliferation	IEA
Biological Process	GO:0048714	positive regulation of oligodendrocyte differentiation	IEA
Biological Process	GO:0048738	cardiac muscle tissue development	IMP
Biological Process	GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP
Biological Process	GO:0050769	positive regulation of neurogenesis	IEA
Biological Process	GO:0050882	voluntary musculoskeletal movement	IMP
Biological Process	GO:0051496	positive regulation of stress fiber assembly	IDA
Biological Process	GO:0051534	negative regulation of NFAT protein import into nucleus	IMP
Biological Process	GO:0051549	positive regulation of keratinocyte migration	ISO
Biological Process	GO:0051896	regulation of protein kinase B signaling	IMP
Biological Process	GO:0051897	positive regulation of protein kinase B signaling	IEA
Biological Process	GO:0055006	cardiac cell development	IMP
Biological Process	GO:0055013	cardiac muscle cell development	IMP
Biological Process	GO:0060048	cardiac muscle contraction	IMP
Biological Process	GO:0060135	maternal process involved in female pregnancy	IEA
Biological Process	GO:0060252	positive regulation of glial cell proliferation	IEA
Biological Process	GO:0060999	positive regulation of dendritic spine development	IEA
Biological Process	GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	IEA
Biological Process	GO:0071230	cellular response to amino acid stimulus	ISO
Biological Process	GO:0071233	cellular response to leucine	ISO
Biological Process	GO:0071456	cellular response to hypoxia	IDA
Biological Process	GO:0090335	regulation of brown fat cell differentiation	IEA
Biological Process	GO:0090559	regulation of membrane permeability	IMP
Biological Process	GO:1901216	positive regulation of neuron death	IEA
Biological Process	GO:1901838	positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter	ISO
Biological Process	GO:1903691	positive regulation of wound healing, spreading of epidermal cells	ISO
Biological Process	GO:1904000	positive regulation of eating behavior	IEA
Biological Process	GO:1904056	positive regulation of cholangiocyte proliferation	IEA
Biological Process	GO:1904058	positive regulation of sensory perception of pain	IEA
Biological Process	GO:1904193	negative regulation of cholangiocyte apoptotic process	IEA
Biological Process	GO:1904197	positive regulation of granulosa cell proliferation	IEA
Biological Process	GO:1904206	positive regulation of skeletal muscle hypertrophy	IEA
Biological Process	GO:1904213	negative regulation of iodide transmembrane transport	IEA
Biological Process	GO:1990253	cellular response to leucine starvation	ISO
Cellular Component	GO:0000139	Golgi membrane	IEA
Cellular Component	GO:0005634	nucleus	IEA
Cellular Component	GO:0005737	cytoplasm	IEA
Cellular Component	GO:0005739	mitochondrion	IEA
Cellular Component	GO:0005741	mitochondrial outer membrane	IEA
Cellular Component	GO:0005764	lysosome	IEA
Cellular Component	GO:0005765	lysosomal membrane	ISO
Cellular Component	GO:0005783	endoplasmic reticulum	IEA
Cellular Component	GO:0005789	endoplasmic reticulum membrane	IEA
Cellular Component	GO:0005794	Golgi apparatus	IEA
Cellular Component	GO:0005829	cytosol	IEA
Cellular Component	GO:0012505	endomembrane system	ISO
Cellular Component	GO:0016020	membrane	IEA
Cellular Component	GO:0016605	PML body	IDA
Cellular Component	GO:0030425	dendrite	IEA
Cellular Component	GO:0031931	TORC1 complex	ISO
Cellular Component	GO:0031932	TORC2 complex	ISO
Cellular Component	GO:0032991	macromolecular complex	IEA
Cellular Component	GO:0043025	neuronal cell body	IEA
Molecular Function	GO:0000166	nucleotide binding	IEA
Molecular Function	GO:0001030	RNA polymerase III type 1 promoter DNA binding	ISO
Molecular Function	GO:0001031	RNA polymerase III type 2 promoter DNA binding	ISO
Molecular Function	GO:0001032	RNA polymerase III type 3 promoter DNA binding	ISO
Molecular Function	GO:0001156	TFIIIC-class transcription factor binding	ISO
Molecular Function	GO:0004672	protein kinase activity	ISO
Molecular Function	GO:0004674	protein serine/threonine kinase activity	IEA
Molecular Function	GO:0005515	protein binding	IPI
Molecular Function	GO:0005524	ATP binding	IEA
Molecular Function	GO:0016301	kinase activity	IEA
Molecular Function	GO:0016740	transferase activity	IEA
Molecular Function	GO:0019901	protein kinase binding	IEA
Molecular Function	GO:0019904	protein domain specific binding	IEA
Molecular Function	GO:0043022	ribosome binding	IDA
Molecular Function	GO:0044877	macromolecular complex binding	IEA
Molecular Function	GO:0051219	phosphoprotein binding	ISO

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000099510	Mtor	ENSMUSP00000099517	Gabpb1	experimental
ENSMUSP00000099510	Mtor	ENSMUSP00000099520	Nppa	predicted
ENSMUSP00000099510	Mtor	ENSMUSP00000099521	Nppb	predicted

More PPIs >>

Protein family and Domain

Q9JLN9