NPAS1 neuronal PAS domain protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPAS1provided by HGNC
Official Full Name: neuronal PAS domain protein 1provided by HGNC
Primary source: HGNC:HGNC:7894
See related: Ensembl:ENSG00000130751 MIM:603346; AllianceGenome:HGNC:7894
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOP5; PASD5; bHLHe11
Summary: 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 protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 1.1), stomach (RPKM 0.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47019837..47045775)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (49845776..49871084)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47523094..47549033)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study provides a clear, unbiased view of the full spectrum of genes regulated by NPAS1 and NPAS3 and shows that these transcription factors are master regulators of neuropsychiatric function. These findings expose the molecular pathophysiology of NPAS1/3 mutations and provide a striking example of the shared, combinatorial nature of molecular pathways that underlie diagnostically distinct neuropsychiatric conditions.
Title: Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.
Here the authors examined the crystal structures of multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering each to contain four putative ligand-binding pockets.
Title: NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in maternal behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in startle response	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuronal PAS domain-containing protein 1

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001321086.2 → NP_001308015.1 neuronal PAS domain-containing protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC008755, AK299128, BC039016

Consensus CDS

CCDS82371.1

UniProtKB/TrEMBL

M0R1R8

Related

ENSP00000398689.2, ENST00000439365.6

Conserved Domains (1) summary

smart00091
Location:119 → 178

PAS; PAS domain
NM_002517.4 → NP_002508.2 neuronal PAS domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_002508.2

Status: REVIEWED

Source sequence(s)

AC008755, BC039016, CA420408

Consensus CDS

CCDS12694.1

UniProtKB/Swiss-Prot

B4DR69, Q99632, Q99742, Q9BY83

Related

ENSP00000469142.1, ENST00000602212.6

Conserved Domains (3) summary

smart00091
Location:141 → 198

PAS; PAS domain

cd00083
Location:45 → 96

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam08447
Location:315 → 386

PAS_3; PAS fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

47019837..47045775

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438882.1 → XP_047294838.1 neuronal PAS domain-containing protein 1 isoform X2
XM_047438885.1 → XP_047294841.1 neuronal PAS domain-containing protein 1 isoform X7
XM_047438881.1 → XP_047294837.1 neuronal PAS domain-containing protein 1 isoform X1
XM_047438886.1 → XP_047294842.1 neuronal PAS domain-containing protein 1 isoform X8
XM_024451526.2 → XP_024307294.2 neuronal PAS domain-containing protein 1 isoform X5
XM_047438883.1 → XP_047294839.1 neuronal PAS domain-containing protein 1 isoform X3
XM_017026844.2 → XP_016882333.1 neuronal PAS domain-containing protein 1 isoform X4
XM_047438884.1 → XP_047294840.1 neuronal PAS domain-containing protein 1 isoform X6

UniProtKB/TrEMBL

M0R2M8
XM_047438887.1 → XP_047294843.1 neuronal PAS domain-containing protein 1 isoform X9

UniProtKB/TrEMBL

M0R2M8

Related

ENSP00000472679.1, ENST00000602189.5
XM_047438889.1 → XP_047294845.1 neuronal PAS domain-containing protein 1 isoform X11
XM_047438888.1 → XP_047294844.1 neuronal PAS domain-containing protein 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

49845776..49871084

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321110.1 → XP_054177085.1 neuronal PAS domain-containing protein 1 isoform X2
XM_054321115.1 → XP_054177090.1 neuronal PAS domain-containing protein 1 isoform X7
XM_054321109.1 → XP_054177084.1 neuronal PAS domain-containing protein 1 isoform X1
XM_054321111.1 → XP_054177086.1 neuronal PAS domain-containing protein 1 isoform X3
XM_054321116.1 → XP_054177091.1 neuronal PAS domain-containing protein 1 isoform X8
XM_054321113.1 → XP_054177088.1 neuronal PAS domain-containing protein 1 isoform X5
XM_054321112.1 → XP_054177087.1 neuronal PAS domain-containing protein 1 isoform X4
XM_054321114.1 → XP_054177089.1 neuronal PAS domain-containing protein 1 isoform X6

UniProtKB/TrEMBL

M0R2M8
XM_054321118.1 → XP_054177093.1 neuronal PAS domain-containing protein 1 isoform X10
XM_054321117.1 → XP_054177092.1 neuronal PAS domain-containing protein 1 isoform X9

UniProtKB/TrEMBL

M0R2M8
XM_054321119.1 → XP_054177094.1 neuronal PAS domain-containing protein 1 isoform X11