• Gene id: 4861

Gene Summary

• Gene Symbol: NPAS1   Gene   UCSC   Ensembl
• Aliases: MOP5, PASD5, bHLHe11
• Gene name: neuronal PAS domain protein 1
• Alternate names: neuronal PAS domain-containing protein 1, PAS domain-containing protein 5, basic-helix-loop-helix-PAS protein MOP5, class E basic helix-loop-helix protein 11, member of PAS protein 5, member of PAS superfamily 5, neuronal PAS1,
• Gene location: 19q13.32 (47019836: 47045774)     Exons: 13     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protec
• OMIM: 600817

Protein Summary

• Protein general information: Q99742  
  • Name: Neuronal PAS domain containing protein 1 (Neuronal PAS1) (Basic helix loop helix PAS protein MOP5) (Class E basic helix loop helix protein 11) (bHLHe11) (Member of PAS protein 5) (PAS domain containing protein 5)
  • Length: 590  
  • Mass: 62702
• Sequence:

  MAAPYPGSGGGSEVKCVGGRGASVPWDFLPGLMVKAPSGPCLQAQRKEKSRNAARSRRGKENLEFFELAKLLPLP
  GAISSQLDKASIVRLSVTYLRLRRFAALGAPPWGLRAAGPPAGLAPGRRGPAALVSEVFEQHLGGHILQSLDGFV
  FALNQEGKFLYISETVSIYLGLSQVEMTGSSVFDYIHPGDHSEVLEQLGLRTPTPGPPTPPSVSSSSSSSSSLAD
  TPEIEASLTKVPPSSLVQERSFFVRMKSTLTKRGLHVKASGYKVIHVTGRLRAHALGLVALGHTLPPAPLAELPL
  HGHMIVFRLSLGLTILACESRVSDHMDLGPSELVGRSCYQFVHGQDATRIRQSHVDLLDKGQVMTGYYRWLQRAG
  GFVWLQSVATVAGSGKSPGEHHVLWVSHVLSQAEGGQTPLDAFQLPASVACEEASSPGPEPTEPEPPTEGKQAAP
  AENEAPQTQGKRIKVEPGPRETKGSEDSGDEDPSSHPATPRPEFTSVIRAGVLKQDPVRPWGLAPPGDPPPTLLH
  AGFLPPVVRGLCTPGTIRYGPAELGLVYPHLQRLGPGPALPEAFYPPLGLPYPGPAGTRLPRKGD

• Structural information:
  • Protein Domains: (45..9-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (135..20-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (293..35-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (-)
  • Interpro: IPR011598  IPR036638  IPR000014  IPR035965  IPR013767   IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • STRING: ENSP00000469142
• Other Databases: GeneCards:  NPAS1  Malacards:  NPAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
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:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	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:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007417	central nervous system development	TAS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0042711	maternal behavior	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq