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NPAS1 (neuronal PAS domain protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4861
Gene nameGene Name - the full gene name approved by the HGNC.
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.
NPAS1
SynonymsGene synonyms aliases
MOP5, PASD5, bHLHe11
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MAAPYPGSGGGSEVKCVGGRGASVPWDFLPGLMVKAPSGPCLQAQRKEKSRNAARSRRGK
ENLEFFELAKLLPLPGAISSQLDKASIVRLSVTYLRL
RRFAALGAPPWGLRAAGPPAGLA
PGRRGPAALVSEVFEQHLGGHILQSLDGFVFALNQEGKFLYISETVSIYLGLSQVEMTGS
SVFDYIHPGDHSEVLEQLGLRT
PTPGPPTPPSVSSSSSSSSSLADTPEIEASLTKVPPSS
LVQERSFFVRMKSTLTKRGLHVKASGYKVIHVTGRLRAHALGLVALGHTLPPAPLAELPL
HGHMIVFRLSLGLTILACESRVSDHMDLGPSELVGRSCYQFVHGQDATRIRQSHVDLLDK
GQVMTGYYRWLQRAGGFVWLQSVATVAGSGKSPGEHHVLWV
SHVLSQAEGGQTPLDAFQL
PASVACEEASSPGPEPTEPEPPTEGKQAAPAENEAPQTQGKRIKVEPGPRETKGSEDSGD
EDPSSHPATPRPEFTSVIRAGVLKQDPVRPWGLAPPGDPPPTLLHAGFLPPVVRGLCTPG
TIRYGPAELGLVYPHLQRLGPGPALPEAFYPPLGLPYPGPAGTRLPRKGD
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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