Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q12980

- NPRL3_HUMAN

UniProt

Q12980 - NPRL3_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    ArrayExpressiQ12980.
    BgeeiQ12980.
    CleanExiHS_C16orf35.
    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. 7 interactions.
    IntActiQ12980. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12980.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NPR3 family.Curated

    Phylogenomic databases

    eggNOGiNOG324281.
    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

    MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN    50
    TGDHADEQDG DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL 100
    QHALGQISKT DPSPKREAPT MILFNVVFAL RANADPSVIN CLHNLSRRIA 150
    TVLQHEERRC QYLTREAKLI LALQDEVSAM ADGNEGPQSP FHHILPKCKL 200
    ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS SLIPPEAIER 250
    SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ 300
    DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE 350
    QFSHQFPSHD LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR 400
    RLLIQLHTYV CLMASPSEEE PRPREDDVPF TARVGGRSLS TPNALSFGSP 450
    TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ RMTENLLASL SEHERAAILS 500
    VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL LMLFDKFRSV 550
    LVVTTHEDPV IAVFQALLP 569
    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.
    RefSeqiNP_001070818.1. NM_001077350.2.
    UniGeneiHs.19699.

    Genome annotation databases

    EnsembliENST00000399953; ENSP00000382834; 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 .
    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. 7 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 ENST00000399953 ; ENSP00000382834 ; 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.
    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

    ArrayExpressi Q12980.
    Bgeei Q12980.
    CleanExi HS_C16orf35.
    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

    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 1, 2014
    This is version 93 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