NPAS4 (neuronal PAS domain protein 4)

Gene

• Entrez ID: 266743
• Gene name: Neuronal PAS domain protein 4
• Gene symbol: NPAS4
• Synonyms (NCBI Gene): Le-PAS, NXF, PASD10, bHLHe79
• Chromosome: 11
• Chromosome location: 11q13.2
• 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 [PubMe

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2391679	hsa-miR-1224-3p	CLIP-seq
MIRT2391680	hsa-miR-1260	CLIP-seq
MIRT2391681	hsa-miR-1260b	CLIP-seq
MIRT2391682	hsa-miR-1280	CLIP-seq
MIRT2391683	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	14701734
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	24465693
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14701734
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	24465693
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007614	Process	Short-term memory	IEA
GO:0007614	Process	Short-term memory	ISS
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0032228	Process	Regulation of synaptic transmission, GABAergic	IEA
GO:0032228	Process	Regulation of synaptic transmission, GABAergic	ISS
GO:0033554	Process	Cellular response to stress	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14701734, 24465693
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	24465693
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0071386	Process	Cellular response to corticosterone stimulus	IEA
GO:0098794	Component	Postsynapse	IEA
GO:1904862	Process	Inhibitory synapse assembly	IEA
GO:1904862	Process	Inhibitory synapse assembly	ISS

Other IDs

• MIM: 608554
• HGNC: 18983
• e!Ensembl: ENSG00000174576

Protein

• UniProt ID: Q8IUM7
• Protein name: Neuronal PAS domain-containing protein 4 (Neuronal PAS4) (Class E basic helix-loop-helix protein 79) (bHLHe79) (HLH-PAS transcription factor NXF) (PAS domain-containing protein 10)
• Protein function: Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hippocampus (By similarity). Plays a key role in the structural and funct
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08447	PAS_3	227 → 300	PAS fold	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:14701734}.
• Sequence:

  MYRSTKGASKARRDQINAEIRNLKELLPLAEADKVRLSYLHIMSLACIYTRKGVFFAGGT
  PLAGPTGLLSAQELEDIVAALPGFLLVFTAEGKLLYLSESVSEHLGHSMVDLVAQGDSIY
  DIIDPADHLTVRQQLTLPSALDTDRLFRCRFNTSKSLRRQSAGNKLVLIRGRFHAHPPGA
  YWAGNPVFTAFCAPLEPRPRPGPGPGPGPASLFLAMFQSRHAKDLALLDISESVLIYLGF
  ERSELLCKSWYGLLHPEDLAHASAQHYRLLAESGDIQAEMVVRLQAKTGGWAWIYCLLYS
  EGPEGPITANNYPISDMEAWSLRQQLNSEDTQAAYVLGTPTMLPSFPENILSQEECSSTN
  PLFTAALGAPRSTSFPSAPELSVVSASEELPRPSKELDFSYLTFPSGPEPSLQAELSKDL
  VCTPPYTPHQPGGCAFLFSLHEPFQTHLPTPSSTLQEQLTPSTATFSDQLTPSSATFPDP
  LTSPLQGQLTETSVRSYEDQLTPCTSTFPDQLLPSTATFPEPLGSPAHEQLTPPSTAFQA
  HLDSPSQTFPEQLSPNPTKTYFAQEGCSFLYEKLPPSPSSPGNGDCTLLALAQLRGPLSV
  DVPLVPEGLLTPEASPVKQSFFHYSEKEQNEIDRLIQQISQLAQGMDRPFSAEAGTGGLE
  PLGGLEPLDSNLSLSGAGPPVLSLDLKPWKCQELDFLADPDNMFLEETPVEDIFMDLSTP
  DPSEEWGSGDPEAEGPGGAPSPCNNLSPEDHSFLEDLATYETAFETGVSAFPYDGFTDEL
  HQLQSQVQDSFHEDGSGGEPTF

• Sequence length: 802

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Microcephaly	Uncertain significance	rs2495534635	RCV003326061

Associations from Text Mining
Disease Name	Relationship Type	References
Developmental Disabilities	Associate	33758288
Disease	Associate	31619230
Growth Disorders	Associate	22030050
Inflammation	Associate	37938766
Intellectual Disability	Associate	22030050
Laryngeal Neoplasms	Associate	36033826
Metabolic Diseases	Associate	36343253
Primary Ovarian Insufficiency	Associate	22030050
Schizophrenia	Associate	33758288