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NPRL3 NPR3 like, GATOR1 complex subunit [ Homo sapiens (human) ]

Gene ID: 8131, updated on 1-Jun-2020

Summary

Official Symbol
NPRL3provided by HGNC
Official Full Name
NPR3 like, GATOR1 complex subunitprovided by HGNC
Primary source
HGNC:HGNC:14124
See related
Ensembl:ENSG00000103148 MIM:600928
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MARE; NPR3; HS-40; RMD11; CGTHBA; FFEVF3; C16orf35
Summary
The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in testis (RPKM 11.3), ovary (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See NPRL3 in Genome Data Viewer
Location:
16p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (85386..138698, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (135800..188697, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 25 Neighboring gene rhomboid 5 homolog 1 Neighboring gene N-methylpurine DNA glycosylase Neighboring gene alpha-globin locus control region Neighboring gene uncharacterized LOC107983982 Neighboring gene hemoglobin subunit zeta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, familial focal, with variable foci 3
MedGen: C4310708 OMIM: 617118 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic determinants of haemolysis in sickle cell anaemia.
NHGRI GWA Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
cellular response to amino acid starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GATOR1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GATOR1 complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GATOR complex protein NPRL3
Names
-14 gene protein
alpha-globin regulatory element-containing gene protein
conserved gene telomeric to alpha globin cluster

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029669.1 RefSeqGene

    Range
    5001..58314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039476.2NP_001034565.1  GATOR complex protein NPRL3 isoform 2

    See identical proteins and their annotated locations for NP_001034565.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK090717, Z69666, Z69720
    UniProtKB/TrEMBL
    Q9BTE2
    Conserved Domains (1) summary
    cl24021
    Location:15237
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3
  2. NM_001077350.3NP_001070818.1  GATOR complex protein NPRL3 isoform 1

    See identical proteins and their annotated locations for NP_001070818.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK090717, DA258664, Z69666, Z69720
    Consensus CDS
    CCDS73795.1
    UniProtKB/Swiss-Prot
    Q12980
    UniProtKB/TrEMBL
    Q9BTE2
    Related
    ENSP00000478273.1, ENST00000611875.5
    Conserved Domains (1) summary
    cl24021
    Location:64416
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3
  3. NM_001243247.1NP_001230176.1  GATOR complex protein NPRL3 isoform 3

    See identical proteins and their annotated locations for NP_001230176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK294228, DA075508, DC384076, Z69720
    UniProtKB/TrEMBL
    B7Z220
    Conserved Domains (1) summary
    cl24021
    Location:1338
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3
  4. NM_001243248.1NP_001230177.1  GATOR complex protein NPRL3 isoform 4

    See identical proteins and their annotated locations for NP_001230177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) lacks an alternate internal segment compared to isoform 1. Variants 4 and 5 both encode the same isoform (4).
    Source sequence(s)
    AK300736, Z69666, Z69720
    Consensus CDS
    CCDS73794.1
    UniProtKB/TrEMBL
    B7Z6Q0
    Conserved Domains (1) summary
    cl24021
    Location:64391
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3
  5. NM_001243249.1NP_001230178.1  GATOR complex protein NPRL3 isoform 4

    See identical proteins and their annotated locations for NP_001230178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) lacks an alternate internal segment compared to isoform 1. Variants 4 and 5 both encode the same isoform (4).
    Source sequence(s)
    BC020392, Z69666, Z69720
    Consensus CDS
    CCDS73794.1
    UniProtKB/TrEMBL
    B7Z6Q0
    Related
    ENSP00000382834.4, ENST00000399953.7
    Conserved Domains (1) summary
    cl24021
    Location:64391
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    85386..138698 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012075.1: Suppressed sequence

    Description
    NM_012075.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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