• Gene id: 266743

Gene Summary

• Gene Symbol: NPAS4   Gene   UCSC   Ensembl
• Aliases: Le-PAS, NXF, PASD10, bHLHe79
• Gene name: neuronal PAS domain protein 4
• Alternate names: neuronal PAS domain-containing protein 4, HLH-PAS transcription factor NXF, PAS domain-containing protein 10, class E basic helix-loop-helix protein 79, neuronal PAS4,
• Gene location: 11q13.2 (66408921: 66426706)     Exons: 12     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 601956

Protein Summary

• Protein general information: Q8IUM7  
  • 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)
  • Length: 802  
  • Mass: 87117
  • Tissue specificity: Brain. {ECO
• Sequence:

  MYRSTKGASKARRDQINAEIRNLKELLPLAEADKVRLSYLHIMSLACIYTRKGVFFAGGTPLAGPTGLLSAQELE
  DIVAALPGFLLVFTAEGKLLYLSESVSEHLGHSMVDLVAQGDSIYDIIDPADHLTVRQQLTLPSALDTDRLFRCR
  FNTSKSLRRQSAGNKLVLIRGRFHAHPPGAYWAGNPVFTAFCAPLEPRPRPGPGPGPGPASLFLAMFQSRHAKDL
  ALLDISESVLIYLGFERSELLCKSWYGLLHPEDLAHASAQHYRLLAESGDIQAEMVVRLQAKTGGWAWIYCLLYS
  EGPEGPITANNYPISDMEAWSLRQQLNSEDTQAAYVLGTPTMLPSFPENILSQEECSSTNPLFTAALGAPRSTSF
  PSAPELSVVSASEELPRPSKELDFSYLTFPSGPEPSLQAELSKDLVCTPPYTPHQPGGCAFLFSLHEPFQTHLPT
  PSSTLQEQLTPSTATFSDQLTPSSATFPDPLTSPLQGQLTETSVRSYEDQLTPCTSTFPDQLLPSTATFPEPLGS
  PAHEQLTPPSTAFQAHLDSPSQTFPEQLSPNPTKTYFAQEGCSFLYEKLPPSPSSPGNGDCTLLALAQLRGPLSV
  DVPLVPEGLLTPEASPVKQSFFHYSEKEQNEIDRLIQQISQLAQGMDRPFSAEAGTGGLEPLGGLEPLDSNLSLS
  GAGPPVLSLDLKPWKCQELDFLADPDNMFLEETPVEDIFMDLSTPDPSEEWGSGDPEAEGPGGAPSPCNNLSPED
  HSFLEDLATYETAFETGVSAFPYDGFTDELHQLQSQVQDSFHEDGSGGEPTF

• Structural information:
  • Protein Domains: (1..5-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (70..14-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (203..27-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (2-)
  • Interpro: IPR011598  IPR000014  IPR035965  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00130
  • STRING: ENSP00000311196
• Other Databases: GeneCards:  NPAS4  Malacards:  NPAS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:1904862	inhibitory synapse assembly	ISS	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:0035176	social behavior	ISS	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	ISS	biological process
GO:0007616	long-term memory	ISS	biological process
GO:0007614	short-term memory	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060080	inhibitory postsynaptic potential	ISS	biological process
GO:0060079	excitatory postsynaptic potential	ISS	biological process
GO:0007612	learning	ISS	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0007614	short-term memory	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060080	inhibitory postsynaptic potential	IEA	biological process
GO:0071386	cellular response to corticosterone stimulus	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq