Seroatlas · Human Serome Atlas

NPAS3

Neuronal PAS domain-containing protein 3

Also known as: bHLHe12, MOP6, NPAS3_HUMAN, PASD6

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

Protein identityUniProt · HPA

UniProt accession: Q8IXF0
Gene: NPAS3
Ensembl: ENSG00000151322
Chromosome: 14
Canonical length: 933 aa
Protein class: Disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

933 residues, UniProt reviewed canonical sequence.

>Q8IXF0|NPAS3
     1  MAPTKPSFQQ DPSRRERITA QHPLPNQSEC RKIYRYDGIY CESTYQNLQA LRKEKSRDAA
    61  RSRRGKENFE FYELAKLLPL PAAITSQLDK ASIIRLTISY LKMRDFANQG DPPWNLRMEG
   121  PPPNTSVKVI GAQRRRSPSA LAIEVFEAHL GSHILQSLDG FVFALNQEGK FLYISETVSI
   181  YLGLSQVELT GSSVFDYVHP GDHVEMAEQL GMKLPPGRGL LSQGTAEDGA SSASSSSQSE
   241  TPEPVESTSP SLLTTDNTLE RSFFIRMKST LTKRGVHIKS SGYKVIHITG RLRLRVSLSH
   301  GRTVPSQIMG LVVVAHALPP PTINEVRIDC HMFVTRVNMD LNIIYCENRI SDYMDLTPVD
   361  IVGKRCYHFI HAEDVEGIRH SHLDLLNKGQ CVTKYYRWMQ KNGGYIWIQS SATIAINAKN
   421  ANEKNIIWVN YLLSNPEYKD TPMDIAQLPH LPEKTSESSE TSDSESDSKD TSGITEDNEN
   481  SKSDEKGNQS ENSEDPEPDR KKSGNACDND MNCNDDGHSS SNPDSRDSDD SFEHSDFENP
   541  KAGEDGFGAL GAMQIKVERY VESESDLRLQ NCESLTSDSA KDSDSAGEAG AQASSKHQKR
   601  KKRRKRQKGG SASRRRLSSA SSPGGLDAGL VEPPRLLSSP NSASVLKIKT EISEPINFDN
   661  DSSIWNYPPN REISRNESPY SMTKPPSSEH FPSPQGGGGG GGGGGGLHVA IPDSVLTPPG
   721  ADGAAARKTQ FGASATAALA PVASDPLSPP LSASPRDKHP GNGGGGGGGG GGAGGGGPSA
   781  SNSLLYTGDL EALQRLQAGN VVLPLVHRVT GTLAATSTAA QRVYTTGTIR YAPAEVTLAM
   841  QSNLLPNAHA VNFVDVNSPG FGLDPKTPME MLYHHVHRLN MSGPFGGAVS AASLTQMPAG
   901  NVFTTAEGLF STLPFPVYSN GIHAAQTLER KED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPAS3 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 13 nTPM
amygdala: 9.8 nTPM
basal ganglia: 8.2 nTPM
hippocampal formation: 7.3 nTPM
spinal cord: 7.3 nTPM
midbrain: 7.2 nTPM

Single-cell type

bergmann glia: 7,384 nCPM
astrocytes: 5,583 nCPM
podocytes: 4,481 nCPM
ependymal cells: 4,394 nCPM
oligodendrocyte progenitor cells: 3,089 nCPM
oligodendrocytes: 2,178 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 68 nTPM
basal ganglia: 62 nTPM
midbrain: 59 nTPM
spinal cord: 59 nTPM
white matter: 58 nTPM
amygdala: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPAS3.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Schizophrenia

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): 0.21
gnomAD pLI: 1
gnomAD missense Z: 3.14
DepMap mean gene effect: -0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NPAS3 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 NPAS3 as an antibody target. Whether an autoantibody or antibody against NPAS3 could matter depends on whether native NPAS3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NPAS3 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 NPAS3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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