Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4861 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Neuronal PAS domain protein 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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NPAS1 |
SynonymsGene synonyms aliases
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MOP5, PASD5, bHLHe11 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IEA |
|
GO:0000785 |
Component |
Chromatin |
ISA |
|
GO:0000977 |
Function |
RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
GO:0001964 |
Process |
Startle response |
IEA |
|
GO:0003700 |
Function |
DNA-binding transcription factor activity |
TAS |
9012850 |
GO:0005634 |
Component |
Nucleus |
IEA |
|
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0007417 |
Process |
Central nervous system development |
TAS |
9012850 |
GO:0042711 |
Process |
Maternal behavior |
IEA |
|
GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
ISS |
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GO:0046982 |
Function |
Protein heterodimerization activity |
ISS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q99742 |
Protein 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) |
Protein function |
May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00010 |
HLH |
46 → 97 |
Helix-loop-helix DNA-binding domain |
Domain |
PF00989 |
PAS |
139 → 202 |
PAS fold |
Domain |
PF08447 |
PAS_3 |
315 → 401 |
PAS fold |
Domain |
|
Sequence |
|
Sequence length |
590 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
15347806, 16172381 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Nonorganic psychosis |
Nonorganic psychosis |
|
15347806 |
Psychosis |
Psychotic Disorders |
|
15347806 |
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