• Gene id: 64067

Gene Summary

• Gene Symbol: NPAS3   Gene   UCSC   Ensembl
• Aliases: MOP6, PASD6, bHLHe12
• Gene name: neuronal PAS domain protein 3
• Alternate names: neuronal PAS domain-containing protein 3, PAS domain-containing protein 6, basic-helix-loop-helix-PAS protein MOP6, class E basic helix-loop-helix protein 12, member of PAS protein 6, neuronal PAS3,
• Gene location: 14q13.1 (32934784: 33804175)     Exons: 12     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the
• OMIM: 609430

Protein Summary

• Protein general information: Q8IXF0  
  • Name: Neuronal PAS domain containing protein 3 (Neuronal PAS3) (Basic helix loop helix PAS protein MOP6) (Class E basic helix loop helix protein 12) (bHLHe12) (Member of PAS protein 6) (PAS domain containing protein 6)
  • Length: 933  
  • Mass: 100805
  • Tissue specificity: Ubiquitously expressed in the adult brain.
• Sequence:

  MAPTKPSFQQDPSRRERITAQHPLPNQSECRKIYRYDGIYCESTYQNLQALRKEKSRDAARSRRGKENFEFYELA
  KLLPLPAAITSQLDKASIIRLTISYLKMRDFANQGDPPWNLRMEGPPPNTSVKVIGAQRRRSPSALAIEVFEAHL
  GSHILQSLDGFVFALNQEGKFLYISETVSIYLGLSQVELTGSSVFDYVHPGDHVEMAEQLGMKLPPGRGLLSQGT
  AEDGASSASSSSQSETPEPVESTSPSLLTTDNTLERSFFIRMKSTLTKRGVHIKSSGYKVIHITGRLRLRVSLSH
  GRTVPSQIMGLVVVAHALPPPTINEVRIDCHMFVTRVNMDLNIIYCENRISDYMDLTPVDIVGKRCYHFIHAEDV
  EGIRHSHLDLLNKGQCVTKYYRWMQKNGGYIWIQSSATIAINAKNANEKNIIWVNYLLSNPEYKDTPMDIAQLPH
  LPEKTSESSETSDSESDSKDTSGITEDNENSKSDEKGNQSENSEDPEPDRKKSGNACDNDMNCNDDGHSSSNPDS
  RDSDDSFEHSDFENPKAGEDGFGALGAMQIKVERYVESESDLRLQNCESLTSDSAKDSDSAGEAGAQASSKHQKR
  KKRRKRQKGGSASRRRLSSASSPGGLDAGLVEPPRLLSSPNSASVLKIKTEISEPINFDNDSSIWNYPPNREISR
  NESPYSMTKPPSSEHFPSPQGGGGGGGGGGGLHVAIPDSVLTPPGADGAAARKTQFGASATAALAPVASDPLSPP
  LSASPRDKHPGNGGGGGGGGGGAGGGGPSASNSLLYTGDLEALQRLQAGNVVLPLVHRVTGTLAATSTAAQRVYT
  TGTIRYAPAEVTLAMQSNLLPNAHAVNFVDVNSPGFGLDPKTPMEMLYHHVHRLNMSGPFGGAVSAASLTQMPAG
  NVFTTAEGLFSTLPFPVYSNGIHAAQTLERKED

• Structural information:
  • Protein Domains: (51..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (147..21-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (319..38-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (-)
  • Interpro: IPR011598  IPR036638  IPR000014  IPR035965  IPR013767   IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • STRING: ENSP00000348460
• Other Databases: GeneCards:  NPAS3  Malacards:  NPAS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq