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Q12980

- NPRL3_HUMAN

UniProt

Q12980 - NPRL3_HUMAN

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Protein

Nitrogen permease regulator 3-like protein

Gene

NPRL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling.1 Publication

GO - Molecular functioni

  1. GTPase activator activity Source: UniProtKB-KW

GO - Biological processi

  1. aorta morphogenesis Source: Ensembl
  2. cardiac muscle tissue development Source: Ensembl
  3. palate development Source: Ensembl
  4. ventricular septum development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
Nitrogen permease regulator 3-like protein
Alternative name(s):
-14 gene protein
Alpha-globin regulatory element-containing gene protein
Protein CGTHBA
Gene namesi
Name:NPRL3
Synonyms:C16orf35, CGTHBA, MARE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:14124. NPRL3.

Pathology & Biotechi

Involvement in diseasei

Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238).1 Publication

Organism-specific databases

PharmGKBiPA25550.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 569569Nitrogen permease regulator 3-like proteinPRO_0000220638Add
BLAST

Proteomic databases

MaxQBiQ12980.
PaxDbiQ12980.
PRIDEiQ12980.

PTM databases

PhosphoSiteiQ12980.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiQ12980.
CleanExiHS_C16orf35.
ExpressionAtlasiQ12980. baseline and differential.
GenevestigatoriQ12980.

Organism-specific databases

HPAiHPA011741.

Interactioni

Subunit structurei

Forms a heterodimer with NPRL2. Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NPRL2Q8WTW41EBI-2650314,EBI-1043552

Protein-protein interaction databases

BioGridi113796. 12 interactions.
IntActiQ12980. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ12980.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NPR3 family.Curated

Phylogenomic databases

eggNOGiNOG324281.
GeneTreeiENSGT00390000015916.
HOGENOMiHOG000004787.
HOVERGENiHBG019399.
InParanoidiQ12980.
OrthoDBiEOG7M0NR3.
PhylomeDBiQ12980.
TreeFamiTF105965.

Family and domain databases

InterProiIPR005365. NPR3.
[Graphical view]
PANTHERiPTHR13153. PTHR13153. 1 hit.
PfamiPF03666. NPR3. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q12980-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN
60 70 80 90 100
TGDHADEQDG DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL
110 120 130 140 150
QHALGQISKT DPSPKREAPT MILFNVVFAL RANADPSVIN CLHNLSRRIA
160 170 180 190 200
TVLQHEERRC QYLTREAKLI LALQDEVSAM ADGNEGPQSP FHHILPKCKL
210 220 230 240 250
ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS SLIPPEAIER
260 270 280 290 300
SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ
310 320 330 340 350
DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE
360 370 380 390 400
QFSHQFPSHD LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR
410 420 430 440 450
RLLIQLHTYV CLMASPSEEE PRPREDDVPF TARVGGRSLS TPNALSFGSP
460 470 480 490 500
TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ RMTENLLASL SEHERAAILS
510 520 530 540 550
VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL LMLFDKFRSV
560
LVVTTHEDPV IAVFQALLP
Length:569
Mass (Da):63,605
Last modified:November 1, 1996 - v1
Checksum:i44BEF42AA7F2841D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti489 – 4891Missing in CAI94885. (PubMed:16728641)Curated
Sequence conflicti489 – 4891Missing in CAI95611. (PubMed:16728641)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X90857 mRNA. Translation: CAA62368.1.
DQ431198 Genomic DNA. Translation: ABD95907.1.
Z69666, Z69720, Z84722 Genomic DNA. Translation: CAI94885.1.
Z69720, Z69666, Z84722 Genomic DNA. Translation: CAI95611.1.
CH471112 Genomic DNA. Translation: EAW85865.1.
CH471112 Genomic DNA. Translation: EAW85867.1.
CCDSiCCDS73795.1.
RefSeqiNP_001070818.1. NM_001077350.2.
UniGeneiHs.19699.

Genome annotation databases

EnsembliENST00000611875; ENSP00000478273; ENSG00000103148.
ENST00000620134; ENSP00000483814; ENSG00000103148.
GeneIDi8131.
KEGGihsa:8131.
UCSCiuc002cfq.3. human.

Polymorphism databases

DMDMi18202492.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X90857 mRNA. Translation: CAA62368.1 .
DQ431198 Genomic DNA. Translation: ABD95907.1 .
Z69666 , Z69720 , Z84722 Genomic DNA. Translation: CAI94885.1 .
Z69720 , Z69666 , Z84722 Genomic DNA. Translation: CAI95611.1 .
CH471112 Genomic DNA. Translation: EAW85865.1 .
CH471112 Genomic DNA. Translation: EAW85867.1 .
CCDSi CCDS73795.1.
RefSeqi NP_001070818.1. NM_001077350.2.
UniGenei Hs.19699.

3D structure databases

ProteinModelPortali Q12980.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113796. 12 interactions.
IntActi Q12980. 1 interaction.

PTM databases

PhosphoSitei Q12980.

Polymorphism databases

DMDMi 18202492.

Proteomic databases

MaxQBi Q12980.
PaxDbi Q12980.
PRIDEi Q12980.

Protocols and materials databases

DNASUi 8131.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000611875 ; ENSP00000478273 ; ENSG00000103148 .
ENST00000620134 ; ENSP00000483814 ; ENSG00000103148 .
GeneIDi 8131.
KEGGi hsa:8131.
UCSCi uc002cfq.3. human.

Organism-specific databases

CTDi 8131.
GeneCardsi GC16M000134.
HGNCi HGNC:14124. NPRL3.
HPAi HPA011741.
MIMi 600928. gene.
neXtProti NX_Q12980.
PharmGKBi PA25550.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324281.
GeneTreei ENSGT00390000015916.
HOGENOMi HOG000004787.
HOVERGENi HBG019399.
InParanoidi Q12980.
OrthoDBi EOG7M0NR3.
PhylomeDBi Q12980.
TreeFami TF105965.

Miscellaneous databases

ChiTaRSi NPRL3. human.
GenomeRNAii 8131.
NextBioi 30797.
PROi Q12980.
SOURCEi Search...

Gene expression databases

Bgeei Q12980.
CleanExi HS_C16orf35.
ExpressionAtlasi Q12980. baseline and differential.
Genevestigatori Q12980.

Family and domain databases

InterProi IPR005365. NPR3.
[Graphical view ]
PANTHERi PTHR13153. PTHR13153. 1 hit.
Pfami PF03666. NPR3. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element."
    Vyas P., Vickers M.A., Picketts D.J., Higgs D.
    Genomics 29:679-689(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex."
    Neklesa T.K., Davis R.W.
    PLoS Genet. 5:E1000515-E1000515(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NPRL2.
  6. "A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1."
    Bar-Peled L., Chantranupong L., Cherniack A.D., Chen W.W., Ottina K.A., Grabiner B.C., Spear E.D., Carter S.L., Meyerson M., Sabatini D.M.
    Science 340:1100-1106(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN GATOR COMPLEX, INTERACTION WITH RRAG PROTEINS.

Entry informationi

Entry nameiNPRL3_HUMAN
AccessioniPrimary (citable) accession number: Q12980
Secondary accession number(s): D3DU40
, Q1W6H0, Q4TT56, Q92469
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Ser-489 is missing in the human genome assembly but is present in all available mRNAs and ESTs.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3