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

Gene ID: 266743, updated on 1-Aug-2020

Summary

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
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

Genomic context

See NPAS4 in Genome Data Viewer
Location:
11q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66408922..66426707)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66188475..66194177)

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 Sharpr-MPRA regulatory region 12876 Neighboring gene mitochondrial ribosomal protein L11 Neighboring gene chromosome 5 open reading frame 63 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to corticosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
inhibitory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
inhibitory synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
learning ISS
Inferred from Sequence or Structural Similarity
more info
 
long-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
short-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q8IUM7
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    66408922..66426707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017537.1XP_016873026.1  neuronal PAS domain-containing protein 4 isoform X1

  2. 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
  3. XM_017017538.1XP_016873027.1  neuronal PAS domain-containing protein 4 isoform X2

RNA

  1. XR_002957139.1 RNA Sequence

  2. XR_001747831.2 RNA Sequence

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