The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008] See more...

Aliases for NPAS1 Gene

Aliases for NPAS1 Gene

  • Neuronal PAS Domain Protein 1 2 3 5
  • Neuronal PAS1 2 3 4
  • Class E Basic Helix-Loop-Helix Protein 11 3 4
  • Neuronal PAS Domain-Containing Protein 1 3 4
  • Basic-Helix-Loop-Helix-PAS Protein MOP5 3 4
  • PAS Domain-Containing Protein 5 3 4
  • Member Of PAS Superfamily 5 2 3
  • Member Of PAS Protein 5 3 4
  • BHLHe11 3 4
  • PASD5 3 4
  • MOP5 3 4
  • BHLHE11 4

External Ids for NPAS1 Gene

Previous GeneCards Identifiers for NPAS1 Gene

  • GC19P048167
  • GC19P047915
  • GC19P052199
  • GC19P052214
  • GC19P052215
  • GC19P047523
  • GC19P043948

Summaries for NPAS1 Gene

Entrez Gene Summary for NPAS1 Gene

  • The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]

GeneCards Summary for NPAS1 Gene

NPAS1 (Neuronal PAS Domain Protein 1) is a Protein Coding gene. Diseases associated with NPAS1 include Basaloid Lung Carcinoma and Schizophrenia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is NPAS3.

UniProtKB/Swiss-Prot Summary for NPAS1 Gene

  • May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity).

Additional gene information for NPAS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPAS1 Gene

Genomics for NPAS1 Gene

GeneHancer (GH) Regulatory Elements for NPAS1 Gene

Promoters and enhancers for NPAS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J047019 Promoter 1.3 EPDnew Ensembl 500.7 +0.6 581 2 TEAD4 ZIC2 ZBTB10 ZBTB26 EZH2 KLF9 SP2 MEF2B KLF13 GABPB1 NPAS1 piR-34265
GH19J047712 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 +694.7 694672 3.4 HNRNPK CTCF PHF8 PHB2 POLR2A ZNF263 ZNF623 REST ZNF740 MYC EHD2 RF00017-3035 ZC3H4 BICRA NOP53-AS1 GRWD1 NOP53 KDELR1 CYTH2 CCDC9
GH19J046974 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 6.4 -43.1 -43130 4.9 ZSCAN5C TEAD4 REST TEAD1 ZNF341 OSR2 NR2F2 KLF9 WT1 ZKSCAN1 lnc-NPAS1-4 ZC3H4 CCDC61 BICRA ARHGAP35 AP2S1 TMEM160 ENSG00000268810 SAE1 NPAS1
GH19J047012 Enhancer 1.2 Ensembl ENCODE dbSUPER 4.7 -6.7 -6719 1 CTCF TCF12 GABPA REST MYC CTBP1 RAD21 TRIM22 SMC3 HCFC1 NPAS1 RF00017-3027 piR-49732-291
GH19J046961 Enhancer 0.7 ENCODE dbSUPER 6.2 -56.5 -56478 3 FOS EZH2 JUND SCRT1 POLR2A FOXA1 PRDM1 lnc-NPAS1-6 lnc-NPAS1-7 ARHGAP35 AP2S1 TMEM160 FKRP STRN4 NPAS1 ENSG00000279948 lnc-TMEM160-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPAS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPAS1

Top Transcription factor binding sites by QIAGEN in the NPAS1 gene promoter:
  • Chx10
  • CREB
  • deltaCREB
  • FOXO4
  • HNF-1
  • HNF-1A
  • Pax-4a
  • POU2F1
  • POU2F1a

Genomic Locations for NPAS1 Gene

Genomic Locations for NPAS1 Gene
chr19:47,019,820-47,045,775
(GRCh38/hg38)
Size:
25,956 bases
Orientation:
Plus strand
chr19:47,523,077-47,549,033
(GRCh37/hg19)
Size:
25,957 bases
Orientation:
Plus strand

Genomic View for NPAS1 Gene

Genes around NPAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPAS1 Gene

Proteins for NPAS1 Gene

  • Protein details for NPAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99742-NPAS1_HUMAN
    Recommended name:
    Neuronal PAS domain-containing protein 1
    Protein Accession:
    Q99742
    Secondary Accessions:
    • B4DR69
    • Q99632
    • Q9BY83

    Protein attributes for NPAS1 Gene

    Size:
    590 amino acids
    Molecular mass:
    62702 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ARNT; forms a heterodimer that binds core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) leading to a transcriptional repressor on its target gene TH (By similarity).

    Alternative splice isoforms for NPAS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPAS1 Gene

Post-translational modifications for NPAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NPAS1 Gene

Domains & Families for NPAS1 Gene

Gene Families for NPAS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NPAS1 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • PAC motif
  • PAS fold-3
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NPAS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51724, highly similar to Neuronal PAS domain-containing protein 1 (B4DR69_HUMAN)
  • PAS domain-containing protein 5 (NPAS1_HUMAN)
genes like me logo Genes that share domains with NPAS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NPAS1 Gene

Function for NPAS1 Gene

Molecular function for NPAS1 Gene

UniProtKB/Swiss-Prot Function:
May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity).
GENATLAS Biochemistry:
neuronal PAS domain protein 1,expressed in the central nervous system

Phenotypes From GWAS Catalog for NPAS1 Gene

Gene Ontology (GO) - Molecular Function for NPAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 9012850
GO:0005515 protein binding IEA --
GO:0046982 protein heterodimerization activity ISS --
genes like me logo Genes that share ontologies with NPAS1: view
genes like me logo Genes that share phenotypes with NPAS1: view

Animal Models for NPAS1 Gene

MGI Knock Outs for NPAS1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPAS1 Gene

Localization for NPAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPAS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPAS1 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NPAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with NPAS1: view

Pathways & Interactions for NPAS1 Gene

PathCards logo

SuperPathways for NPAS1 Gene

No Data Available

SIGNOR curated interactions for NPAS1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NPAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001964 startle response IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007417 central nervous system development TAS 9012850
genes like me logo Genes that share ontologies with NPAS1: view

No data available for Pathways by source for NPAS1 Gene

Drugs & Compounds for NPAS1 Gene

No Compound Related Data Available

Transcripts for NPAS1 Gene

mRNA/cDNA for NPAS1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPAS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12
SP1: - - - - -
SP2:
SP3: - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - -
SP7: -
SP8:
SP9:
SP10: - - -

Relevant External Links for NPAS1 Gene

GeneLoc Exon Structure for
NPAS1

Expression for NPAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPAS1 Gene

mRNA differential expression in normal tissues according to GTEx for NPAS1 Gene

This gene is overexpressed in Brain - Cortex (x5.7), Brain - Hippocampus (x4.9), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPAS1

SOURCE GeneReport for Unigene cluster for NPAS1 Gene:

Hs.79564

Evidence on tissue expression from TISSUES for NPAS1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NPAS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPAS1 Gene

Orthologs for NPAS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPAS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPAS1 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPAS1 31 30
  • 88.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NPAS1 31 30
  • 87.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Npas1 17 31 30
  • 83.84 (n)
rat
(Rattus norvegicus)
Mammalia Npas1 30
  • 82.54 (n)
oppossum
(Monodelphis domestica)
Mammalia NPAS1 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPAS1 31
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii npas3b 31 30
  • 63.08 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trh 31 32
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3066 31
  • 24 (a)
OneToMany
Species where no ortholog for NPAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPAS1 Gene

ENSEMBL:
Gene Tree for NPAS1 (if available)
TreeFam:
Gene Tree for NPAS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPAS1: view image

Paralogs for NPAS1 Gene

Paralogs for NPAS1 Gene

(2) SIMAP similar genes for NPAS1 Gene using alignment to 5 proteins:

  • NPAS1_HUMAN
  • B4DR69_HUMAN
  • M0QX32_HUMAN
  • M0R1R8_HUMAN
  • M0R2M8_HUMAN
genes like me logo Genes that share paralogs with NPAS1: view

Variants for NPAS1 Gene

Additional dbSNP identifiers (rs#s) for NPAS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NPAS1 Gene

Variant ID Type Subtype PubMed ID
dgv15e24 CNV gain 17666407
dgv649e199 CNV deletion 23128226
esv1670372 CNV deletion 17803354
esv2560518 CNV deletion 19546169
esv2718657 CNV deletion 23290073
esv2718658 CNV deletion 23290073
esv2718659 CNV deletion 23290073
esv2718660 CNV deletion 23290073
esv33386 CNV gain 17666407
esv3556486 CNV deletion 23714750
esv3644543 CNV loss 21293372
nsv2512 CNV insertion 18451855

Variation tolerance for NPAS1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 27.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPAS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPAS1 Gene

Disorders for NPAS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NPAS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
basaloid lung carcinoma
  • basaloid lung cancer
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search NPAS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPAS1

genes like me logo Genes that share disorders with NPAS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPAS1 Gene

Publications for NPAS1 Gene

  1. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PMID: 9079689) Hogenesch JB … Bradfield CA (The Journal of biological chemistry 1997) 2 3 4 54
  2. Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. (PMID: 9012850) Zhou YD … McKnight SL (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 54
  3. Novel function of neuronal PAS domain protein 1 in erythropoietin expression in neuronal cells. (PMID: 15635607) Ohsawa S … Miura M (Journal of neuroscience research 2005) 3 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for NPAS1 Gene

Sources for NPAS1 Gene