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NPAS4 neuronal PAS domain protein 4 [ Homo sapiens (human) ]

Gene ID: 266743, updated on 11-Jun-2025
Official Symbol
NPAS4provided by HGNC
Official Full Name
neuronal PAS domain protein 4provided by HGNC
Primary source
HGNC:HGNC:18983
See related
Ensembl:ENSG00000174576 MIM:608554; AllianceGenome:HGNC:18983
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NXF; Le-PAS; PASD10; bHLHe79
Summary
NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in brain (RPKM 1.7), endometrium (RPKM 1.7) and 14 other tissues See more
Orthologs
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See NPAS4 in Genome Data Viewer
Location:
11q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66409158..66426707)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66405041..66423054)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66188475..66194178)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene bromodomain containing 9 pseudogene 1 Neighboring gene RNA, U1 small nuclear 84, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66181037-66181555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66181556-66182074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66185208-66185708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66185709-66186209 Neighboring gene Sharpr-MPRA regulatory region 12876 Neighboring gene small nucleolar RNA SNORA43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5044 Neighboring gene mitochondrial ribosomal protein L11

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to corticosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to stress IEA
Inferred from Electronic Annotation
more info
 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in inhibitory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inhibitory synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in inhibitory synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in learning IEA
Inferred from Electronic Annotation
more info
 
involved_in learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in long-term memory IEA
Inferred from Electronic Annotation
more info
 
involved_in long-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in short-term memory IEA
Inferred from Electronic Annotation
more info
 
involved_in short-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in social behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neuronal PAS domain-containing protein 4
Names
HLH-PAS transcription factor NXF
PAS domain-containing protein 10
class E basic helix-loop-helix protein 79
neuronal PAS4

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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_001318804.1NP_001305733.1  neuronal PAS domain-containing protein 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK094025, AK096253, BC143630
    UniProtKB/Swiss-Prot
    Q8IUM7
  2. NM_178864.4NP_849195.2  neuronal PAS domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_849195.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB049469, AK096253, AP001107
    Consensus CDS
    CCDS8138.1
    UniProtKB/Swiss-Prot
    B7ZL81, Q8IUM7, Q8N8S5, Q8N9Q9
    Related
    ENSP00000311196.2, ENST00000311034.7
    Conserved Domains (4) summary
    smart00091
    Location:72135
    PAS; PAS domain
    cd00130
    Location:214294
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam08447
    Location:95188
    PAS_3; PAS fold
    pfam14598
    Location:217319
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66409158..66426707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426764.1XP_047282720.1  neuronal PAS domain-containing protein 4 isoform X1

  2. XM_047426765.1XP_047282721.1  neuronal PAS domain-containing protein 4 isoform X1

  3. XM_017017539.1XP_016873028.1  neuronal PAS domain-containing protein 4 isoform X3

    UniProtKB/Swiss-Prot
    Q8IUM7
    Related
    ENSP00000433135.1, ENST00000525148.1
    Conserved Domains (2) summary
    smart00353
    Location:1052
    HLH; helix loop helix domain
    smart00091
    Location:72135
    PAS; PAS domain
  4. XM_017017538.2XP_016873027.1  neuronal PAS domain-containing protein 4 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66405041..66423054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368416.1XP_054224391.1  neuronal PAS domain-containing protein 4 isoform X1

  2. XM_054368417.1XP_054224392.1  neuronal PAS domain-containing protein 4 isoform X1

  3. XM_054368415.1XP_054224390.1  neuronal PAS domain-containing protein 4 isoform X1

  4. XM_054368414.1XP_054224389.1  neuronal PAS domain-containing protein 4 isoform X1

  5. XM_054368419.1XP_054224394.1  neuronal PAS domain-containing protein 4 isoform X4

  6. XM_054368418.1XP_054224393.1  neuronal PAS domain-containing protein 4 isoform X2