NPAS1 (neuronal PAS domain protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4861
Gene name Gene Name - the full gene name approved by the HGNC.
Neuronal PAS domain protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPAS1
Synonyms (NCBI Gene) Gene synonyms aliases
MOP5, PASD5, bHLHe11
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
miRTarBase ID miRNA Experiments Reference
MIRT017075 hsa-miR-335-5p Microarray 18185580
MIRT716397 hsa-miR-497-3p HITS-CLIP 19536157
MIRT716396 hsa-miR-6856-3p HITS-CLIP 19536157
MIRT716395 hsa-miR-4418 HITS-CLIP 19536157
MIRT716394 hsa-miR-509-3-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603346 7894 ENSG00000130751
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 
MAAPYPGSGGGSEVKCVGGRGASVPWDFLPGLMVKAPSGPCLQAQRKEKSRNAARSRRGK
ENLEFFELAKLLPLPGAISSQLDKASIVRLSVTYLRLRRFAALGAPPWGLRAAGPPAGLA
PGRRGPAALVSEVFEQHLGGHILQSLDGFVFALNQEGKFLYISETVSIYLGLSQVEMTGS
SVFDYIHPGDHSEVLEQLGLRTPTPGPPTPPSVSSSSSSSSSLADTPEIEASLTKVPPSS
LVQERSFFVRMKSTLTKRGLHVKASGYKVIHVTGRLRAHALGLVALGHTLPPAPLAELPL
HGHMIVFRLSLGLTILACESRVSDHMDLGPSELVGRSCYQFVHGQDATRIRQSHVDLLDK
GQVMTGYYRWLQRAGGFVWLQSVATVAGSGKSPGEHHVLWVSHVLSQAEGGQTPLDAFQL
PASVACEEASSPGPEPTEPEPPTEGKQAAPAENEAPQTQGKRIKVEPGPRETKGSEDSGD
EDPSSHPATPRPEFTSVIRAGVLKQDPVRPWGLAPPGDPPPTLLHAGFLPPVVRGLCTPG
TIRYGPAELGLVYPHLQRLGPGPALPEAFYPPLGLPYPGPAGTRLPRKGD
Sequence length 590
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 15347806, 16172381
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 27782878
Bipolar Disorder Associate 27782878
Mental Disorders Associate 27782878
Schizophrenia Associate 27782878