Details for: NPRL3

Gene ID: 8131

Symbol: NPRL3

Ensembl ID: ENSG00000103148

Description: NPR3 like, GATOR1 complex subunit

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.7
    Marker Score: 4721
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.34
    Marker Score: 1873
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.75
    Marker Score: 733
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.67
    Marker Score: 17199
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.65
    Marker Score: 35148
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.62
    Marker Score: 6265
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.59
    Marker Score: 60328
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.58
    Marker Score: 14904
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.57
    Marker Score: 96808
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.57
    Marker Score: 14940
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.53
    Marker Score: 11734
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.52
    Marker Score: 13044
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.51
    Marker Score: 881
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.5
    Marker Score: 55208
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.49
    Marker Score: 22323
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.46
    Marker Score: 463
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.45
    Marker Score: 1752.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.44
    Marker Score: 5961
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.42
    Marker Score: 28323
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.42
    Marker Score: 387
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.41
    Marker Score: 5728
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.4
    Marker Score: 2160
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.38
    Marker Score: 1858
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.29
    Marker Score: 5398
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.26
    Marker Score: 1810
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.09
    Marker Score: 1366
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.07
    Marker Score: 727
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.06
    Marker Score: 2162
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.04
    Marker Score: 1197
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.02
    Marker Score: 294
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71696
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1
    Marker Score: 1074
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47921
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30393
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.98
    Marker Score: 1878
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.96
    Marker Score: 1090
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14823
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2397
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.94
    Marker Score: 1169
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.94
    Marker Score: 489
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.93
    Marker Score: 4319
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.93
    Marker Score: 1005
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2703
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.9
    Marker Score: 989
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.89
    Marker Score: 496
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.89
    Marker Score: 2086
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.88
    Marker Score: 19640
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.88
    Marker Score: 256
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.87
    Marker Score: 755
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.87
    Marker Score: 505
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.87
    Marker Score: 826
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.85
    Marker Score: 1030
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.85
    Marker Score: 413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4823
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.84
    Marker Score: 3003
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.84
    Marker Score: 893
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.82
    Marker Score: 772
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.82
    Marker Score: 5317
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.8
    Marker Score: 253
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.8
    Marker Score: 1295
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.79
    Marker Score: 2153
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.79
    Marker Score: 360
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.79
    Marker Score: 1884
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.78
    Marker Score: 3378
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.78
    Marker Score: 1718.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.78
    Marker Score: 877
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.78
    Marker Score: 937
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 591
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.76
    Marker Score: 1907
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.76
    Marker Score: 4570
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.76
    Marker Score: 500
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.76
    Marker Score: 3166
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.76
    Marker Score: 187
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.76
    Marker Score: 800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.76
    Marker Score: 239
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.75
    Marker Score: 470
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.75
    Marker Score: 370
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.75
    Marker Score: 759
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.75
    Marker Score: 393
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.75
    Marker Score: 360
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.74
    Marker Score: 408
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.74
    Marker Score: 352
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.73
    Marker Score: 670
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.72
    Marker Score: 625
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.72
    Marker Score: 265
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.71
    Marker Score: 1008
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2985
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.71
    Marker Score: 2786
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.71
    Marker Score: 1478
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.7
    Marker Score: 7079
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.7
    Marker Score: 620
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.69
    Marker Score: 1172
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.69
    Marker Score: 215
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.68
    Marker Score: 160

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key Characteristics** NPRL3 is a gene that belongs to the GATOR1 complex, a multiprotein complex that regulates mTORC1 signaling. The NPRL3 protein is a subunit of this complex and is involved in the negative regulation of mTORC1 signaling. This suggests that NPRL3 plays a role in limiting the activity of mTORC1, which is a critical regulator of cell growth, metabolism, and autophagy. NPRL3 is also involved in the regulation of autophagy, a cellular process that involves the degradation and recycling of cellular components. **Pathways and Functions** NPRL3 is involved in several cellular pathways, including: 1. **Autophagy**: NPRL3 plays a role in the regulation of autophagy, a process that involves the degradation and recycling of cellular components. 2. **mTORC1 signaling**: NPRL3 is a subunit of the GATOR1 complex, which regulates mTORC1 signaling. mTORC1 is a key regulator of cell growth, proliferation, and metabolism. 3. **Stress response**: NPRL3 is involved in the regulation of cellular responses to stress, including amino acid starvation and starvation. 4. **Amino acid regulate mTORC1**: NPRL3 is involved in the regulation of mTORC1 signaling in response to amino acids. 5. **GTPase activator activity**: NPRL3 has GTPase activator activity, which suggests that it regulates the activity of GTP-binding proteins. **Clinical Significance** NPRL3 has been implicated in several diseases, including: 1. **Neurodegenerative diseases**: NPRL3 has been shown to be involved in the regulation of autophagy and mTORC1 signaling, which are critical pathways involved in neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. 2. **Cancer**: NPRL3 has been implicated in the regulation of cell growth and metabolism, which are critical processes involved in cancer development and progression. 3. **Metabolic disorders**: NPRL3 has been shown to be involved in the regulation of glucose and lipid metabolism, which are critical processes involved in metabolic disorders such as type 2 diabetes and obesity. In conclusion, NPRL3 is a gene that plays a critical role in regulating autophagy, mTORC1 signaling, and stress response. Its dysregulation has been implicated in several diseases, including neurodegenerative diseases, cancer, and metabolic disorders. Further research is needed to fully understand the functions of NPRL3 and its role in human disease.

Genular Protein ID: 2214431057

Symbol: NPRL3_HUMAN

Name: Protein CGTHBA

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8575760

Title: Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element.

PubMed ID: 8575760

DOI: 10.1006/geno.1995.9951

PubMed ID: 16728641

Title: A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

PubMed ID: 16728641

DOI: 10.1126/science.1126431

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 19521502

Title: A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex.

PubMed ID: 19521502

DOI: 10.1371/journal.pgen.1000515

PubMed ID: 23723238

Title: A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.

PubMed ID: 23723238

DOI: 10.1126/science.1232044

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28199306

Title: KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.

PubMed ID: 28199306

DOI: 10.1038/nature21423

PubMed ID: 36007018

Title: Lysosomal GPCR-like protein LYCHOS signals cholesterol sufficiency to mTORC1.

PubMed ID: 36007018

DOI: 10.1126/science.abg6621

PubMed ID: 29590090

Title: Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes.

PubMed ID: 29590090

DOI: 10.1038/nature26158

PubMed ID: 35338845

Title: Cryo-EM structures of the human GATOR1-Rag-Ragulator complex reveal a spatial-constraint regulated GAP mechanism.

PubMed ID: 35338845

DOI: 10.1016/j.molcel.2022.03.002

PubMed ID: 26505888

Title: Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PubMed ID: 26505888

DOI: 10.1002/ana.24547

PubMed ID: 26285051

Title: Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

PubMed ID: 26285051

DOI: 10.1002/ana.24502

PubMed ID: 27173016

Title: Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

PubMed ID: 27173016

DOI: 10.1111/epi.13391

Sequence Information:

  • Length: 569
  • Mass: 63605
  • Checksum: 44BEF42AA7F2841D
  • Sequence:
  • MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG 
    DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQISKT DPSPKREAPT 
    MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM 
    ADGNEGPQSP FHHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS 
    SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ 
    DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE QFSHQFPSHD 
    LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE 
    PRPREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ 
    RMTENLLASL SEHERAAILS VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL 
    LMLFDKFRSV LVVTTHEDPV IAVFQALLP

Genular Protein ID: 1914215432

Symbol: Q9BTE2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 390
  • Mass: 43606
  • Checksum: C0FF9F9EF59A63F2
  • Sequence:
  • MADGNEGPQS PFHHILPKCK LARDLKEAYD SLCTSGVVRL HINSWLEVSF CLPHKIHYAA 
    SSLIPPEAIE RSLKAIRPYH ALLLLSDEKS LLGELPIDCS PALVRVIKTT SAVKNLQQLA 
    QDADLALLQV FQLAAHLVYW GKAIIIYPLC ENNVYMLSPN ASVCLYSPLA EQFSHQFPSH 
    DLPSVLAKFS LPVSLSEFRN PLAPAVQETQ LIQMVVWMLQ RRLLIQLHTY VCLMASPSEE 
    EPRPREDDVP FTARVGGRSL STPNALSFGS PTSSDDMTLT SPSMDNSSAE LLPSGDSPLN 
    QRMTENLLAS LSEHERAAIL SVPAAQNPED LRMFARLLHY FRGRHHLEEI MYNENTRRSQ 
    LLMLFDKFRS VLVVTTHEDP VIAVFQALLP

Genular Protein ID: 538858576

Symbol: B7Z6Q0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 544
  • Mass: 60792
  • Checksum: C6A12CEBC88DA304
  • Sequence:
  • MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG 
    DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQANAD PSVINCLHNL 
    SRRIATVLQH EERRCQYLTR EAKLILALQD EVSAMADGNE GPQSPFHHIL PKCKLARDLK 
    EAYDSLCTSG VVRLHINSWL EVSFCLPHKI HYAASSLIPP EAIERSLKAI RPYHALLLLS 
    DEKSLLGELP IDCSPALVRV IKTTSAVKNL QQLAQDADLA LLQVFQLAAH LVYWGKAIII 
    YPLCENNVYM LSPNASVCLY SPLAEQFSHQ FPSHDLPSVL AKFSLPVSLS EFRNPLAPAV 
    QETQLIQMVV WMLQRRLLIQ LHTYVCLMAS PSEEEPRPRE DDVPFTARVG GRSLSTPNAL 
    SFGSPTSSDD MTLTSPSMDN SSAELLPSGD SPLNQRMTEN LLASLSEHER AAILSVPAAQ 
    NPEDLRMFAR LLHYFRGRHH LEEIMYNENT RRSQLLMLFD KFRSVLVVTT HEDPVIAVFQ 
    ALLP

Genular Protein ID: 3194030851

Symbol: B7Z220_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 491
  • Mass: 55025
  • Checksum: BC7CA4E9B4C0FAE7
  • Sequence:
  • MCGQKFELEI DNVRFVGHPT LLQHALGQIS KTDPSPKREA PTMILFNVVF ALRANADPSV 
    INCLHNLSRR IATVLQHEER RCQYLTREAK LILALQDEVS AMADGNEGPQ SPFHHILPKC 
    KLARDLKEAY DSLCTSGVVR LHINSWLEVS FCLPHKIHYA ASSLIPPEAI ERSLKAIRPY 
    HALLLLSDEK SLLGELPIDC SPALVRVIKT TSAVKNLQQL AQDADLALLQ VFQLAAHLVY 
    WGKAIIIYPL CENNVYMLSP NASVCLYSPL AEQFSHQFPS HDLPSVLAKF SLPVSLSEFR 
    NPLAPAVQET QLIQMVVWML QRRLLIQLHT YVCLMASPSE EEPRPREDDV PFTARVGGRS 
    LSTPNALSFG SPTSSDDMTL TSPSMDNSSA ELLPSGDSPL NQRMTENLLA SLSEHERAAI 
    LSVPAAQNPE DLRMFARLLH YFRGRHHLEE IMYNENTRRS QLLMLFDKFR SVLVVTTHED 
    PVIAVFQALL P

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.