Seroatlas · Human Serome Atlas

NPRL3

GATOR1 complex protein NPRL3

Also known as: C16orf35, CGTHBA, HS-40, MARE, NPR3, NPRL3_HUMAN, RMD11

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q12980
Gene
NPRL3
Ensembl
ENSG00000103148
Chromosome
16
Canonical length
569 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

569 residues, UniProt reviewed canonical sequence.

>Q12980|NPRL3
     1  MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG
    61  DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQISKT DPSPKREAPT
   121  MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM
   181  ADGNEGPQSP FHHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS
   241  SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ
   301  DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE QFSHQFPSHD
   361  LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE
   421  PRPREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ
   481  RMTENLLASL SEHERAAILS VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL
   541  LMLFDKFRSV LVVTTHEDPV IAVFQALLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPRL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 23 nTPM
  • cerebral cortex: 21 nTPM
  • ovary: 20 nTPM
  • adrenal gland: 20 nTPM
  • cerebellum: 18 nTPM
  • bone marrow: 18 nTPM

Single-cell type

  • retinal ganglion cells: 178 nCPM
  • early primary spermatocytes: 118 nCPM
  • late spermatids: 113 nCPM
  • myonuclei: 106 nCPM
  • retinal bipolar cells: 103 nCPM
  • erythrocyte progenitors: 102 nCPM

Immune cell

  • myeloid DC: 3.5 nTPM
  • MAIT T-cell: 3.2 nTPM
  • non-classical monocyte: 3.1 nTPM
  • gdT-cell: 3 nTPM
  • naive CD8 T-cell: 2.9 nTPM
  • T-reg: 2.9 nTPM

Brain region

  • thalamus: 28 nTPM
  • midbrain: 28 nTPM
  • basal ganglia: 27 nTPM
  • hypothalamus: 27 nTPM
  • amygdala: 26 nTPM
  • white matter: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPRL3.

Disease | AllUniProt

Conditions NPRL3 is implicated in, by any mechanism.

  • Epilepsy, familial focal, with variable foci 3 (FFEVF3) MIM:617118

Disease | GeneticClinVar

140 pathogenic / likely-pathogenic of 1,051 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.49
gnomAD pLI
0.19
gnomAD missense Z
1.84
DepMap mean gene effect
0.16
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Nitrogen permease regulator 3
  • GATOR1 complex protein NPRL3, C-terminal HTH domain
  • Nitrogen Permease regulator of amino acid transport activity 3
  • GATOR1 complex protein NPRL3, C-terminal HTH

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NPRL3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NPRL3 as an antibody target. Whether an autoantibody or antibody against NPRL3 could matter depends on whether native NPRL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NPRL3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NPRL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NPRL3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...