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NPAS1 neuronal PAS domain protein 1 [ Homo sapiens (human) ]

Gene ID: 4861, updated on 3-Apr-2024

Summary

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Official Symbol
NPAS1provided by HGNC
Official Full Name
neuronal PAS domain protein 1provided by HGNC
Primary source
HGNC:HGNC:7894
See related
Ensembl:ENSG00000130751 MIM:603346; AllianceGenome:HGNC:7894
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
MOP5; PASD5; bHLHe11
Summary
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]
Expression
Biased expression in brain (RPKM 1.1), stomach (RPKM 0.8) and 8 other tissues See more
Orthologs
mouse all
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Genomic context

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See NPAS1 in Genome Data Viewer
Location:
19q13.32
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47019837..47045775)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49845776..49871084)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47523094..47549033)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47341466-47341966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47358600-47359538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47359539-47360475 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10833 Neighboring gene adaptor related protein complex 2 subunit sigma 1 Neighboring gene Rho GTPase activating protein 35 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10834 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:47466169-47467368 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47479369-47480226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47480227-47481082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47505718-47506463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47506464-47507210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47508684-47509262 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47514658-47514871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10835 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47533967-47534068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47534993-47535494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10836 Neighboring gene Sharpr-MPRA regulatory region 8906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47552307-47552824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47552825-47553342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47557751-47558307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47562983-47563503 Neighboring gene MPRA-validated peak3531 silencer Neighboring gene transmembrane protein 160 Neighboring gene zinc finger CCCH-type containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47613025-47613752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47615210-47615938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47615939-47616666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14858

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes. Michaelson JJ, et al. Biol Psychiatry, 2017 Aug 1. PMID 28499489, Free PMC Article
  2. Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Zhou YD, et al. Proc Natl Acad Sci U S A, 1997 Jan 21. PMID 9012850, Free PMC Article
  3. Novel function of neuronal PAS domain protein 1 in erythropoietin expression in neuronal cells. Ohsawa S, et al. J Neurosci Res, 2005 Feb 15. PMID 15635607
  4. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. Hogenesch JB, et al. J Biol Chem, 1997 Mar 28. PMID 9079689
  5. NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors. Wu D, et al. Elife, 2016 Oct 26. PMID 27782878, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study provides a clear, unbiased view of the full spectrum of genes regulated by NPAS1 and NPAS3 and shows that these transcription factors are master regulators of neuropsychiatric function. These findings expose the molecular pathophysiology of NPAS1/3 mutations and provide a striking example of the shared, combinatorial nature of molecular pathways that underlie diagnostically distinct neuropsychiatric conditions.
    Title: Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.
  2. Here the authors examined the crystal structures of multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering each to contain four putative ligand-binding pockets.
    Title: NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in maternal behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in startle response IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neuronal PAS domain-containing protein 1
Names
PAS domain-containing protein 5
basic-helix-loop-helix-PAS protein MOP5
class E basic helix-loop-helix protein 11
member of PAS protein 5
member of PAS superfamily 5
neuronal PAS1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001321086.2 → NP_001308015.1  neuronal PAS domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008755, AK299128, BC039016
    Consensus CDS
    CCDS82371.1
    UniProtKB/TrEMBL
    M0R1R8
    Related
    ENSP00000398689.2, ENST00000439365.6
    Conserved Domains (1) summary
    smart00091
    Location:119 → 178
    PAS; PAS domain

  2. NM_002517.4 → NP_002508.2  neuronal PAS domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_002508.2

    Status: REVIEWED

    Source sequence(s)
    AC008755, BC039016, CA420408
    Consensus CDS
    CCDS12694.1
    UniProtKB/Swiss-Prot
    B4DR69, Q99632, Q99742, Q9BY83
    Related
    ENSP00000469142.1, ENST00000602212.6
    Conserved Domains (3) summary
    smart00091
    Location:141 → 198
    PAS; PAS domain
    cd00083
    Location:45 → 96
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam08447
    Location:315 → 386
    PAS_3; PAS fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    47019837..47045775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438882.1 → XP_047294838.1  neuronal PAS domain-containing protein 1 isoform X2

  2. XM_047438885.1 → XP_047294841.1  neuronal PAS domain-containing protein 1 isoform X7

  3. XM_047438881.1 → XP_047294837.1  neuronal PAS domain-containing protein 1 isoform X1

  4. XM_047438886.1 → XP_047294842.1  neuronal PAS domain-containing protein 1 isoform X8

  5. XM_024451526.2 → XP_024307294.2  neuronal PAS domain-containing protein 1 isoform X5

  6. XM_047438883.1 → XP_047294839.1  neuronal PAS domain-containing protein 1 isoform X3

  7. XM_017026844.2 → XP_016882333.1  neuronal PAS domain-containing protein 1 isoform X4

  8. XM_047438884.1 → XP_047294840.1  neuronal PAS domain-containing protein 1 isoform X6

  9. XM_047438887.1 → XP_047294843.1  neuronal PAS domain-containing protein 1 isoform X9

    Related
    ENSP00000472679.1, ENST00000602189.5

  10. XM_047438889.1 → XP_047294845.1  neuronal PAS domain-containing protein 1 isoform X11

  11. XM_047438888.1 → XP_047294844.1  neuronal PAS domain-containing protein 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    49845776..49871084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321110.1 → XP_054177085.1  neuronal PAS domain-containing protein 1 isoform X2

  2. XM_054321115.1 → XP_054177090.1  neuronal PAS domain-containing protein 1 isoform X7

  3. XM_054321109.1 → XP_054177084.1  neuronal PAS domain-containing protein 1 isoform X1

  4. XM_054321111.1 → XP_054177086.1  neuronal PAS domain-containing protein 1 isoform X3

  5. XM_054321116.1 → XP_054177091.1  neuronal PAS domain-containing protein 1 isoform X8

  6. XM_054321113.1 → XP_054177088.1  neuronal PAS domain-containing protein 1 isoform X5

  7. XM_054321112.1 → XP_054177087.1  neuronal PAS domain-containing protein 1 isoform X4

  8. XM_054321114.1 → XP_054177089.1  neuronal PAS domain-containing protein 1 isoform X6

  9. XM_054321118.1 → XP_054177093.1  neuronal PAS domain-containing protein 1 isoform X10

  10. XM_054321117.1 → XP_054177092.1  neuronal PAS domain-containing protein 1 isoform X9

  11. XM_054321119.1 → XP_054177094.1  neuronal PAS domain-containing protein 1 isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99742.2 GenPept UniProtKB/Swiss-Prot:Q99742

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