Details for: NPAS1

Gene ID: 4861

Symbol: NPAS1

Ensembl ID: ENSG00000130751

Description: neuronal PAS domain protein 1

Associated with

  • Central nervous system development
    (GO:0007417)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Maternal behavior
    (GO:0042711)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleus
    (GO:0005634)
  • Protein heterodimerization activity
    (GO:0046982)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Startle response
    (GO:0001964)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 54.5179
    Cell Significance Index: -8.4800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.4471
    Cell Significance Index: -8.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.8697
    Cell Significance Index: -8.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.1769
    Cell Significance Index: -8.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.7443
    Cell Significance Index: 106.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.2959
    Cell Significance Index: 31.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1226
    Cell Significance Index: 402.6600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6472
    Cell Significance Index: 123.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5756
    Cell Significance Index: 35.3800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.5571
    Cell Significance Index: 7.2300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.4956
    Cell Significance Index: 10.2800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4774
    Cell Significance Index: 11.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3482
    Cell Significance Index: 34.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3286
    Cell Significance Index: 17.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3014
    Cell Significance Index: 60.4700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2945
    Cell Significance Index: 265.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1862
    Cell Significance Index: 21.7100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1774
    Cell Significance Index: 28.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1722
    Cell Significance Index: 3.7300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1602
    Cell Significance Index: 18.8900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1523
    Cell Significance Index: 105.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1428
    Cell Significance Index: 9.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1272
    Cell Significance Index: 25.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1116
    Cell Significance Index: 3.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1078
    Cell Significance Index: 7.2500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1019
    Cell Significance Index: 2.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0967
    Cell Significance Index: 2.0600
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0951
    Cell Significance Index: 0.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0779
    Cell Significance Index: 3.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0650
    Cell Significance Index: 3.9000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0573
    Cell Significance Index: 1.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0402
    Cell Significance Index: 2.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0371
    Cell Significance Index: 1.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0368
    Cell Significance Index: 67.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0346
    Cell Significance Index: 18.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0264
    Cell Significance Index: 0.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0257
    Cell Significance Index: 4.6300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0254
    Cell Significance Index: 11.2100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0242
    Cell Significance Index: 0.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0231
    Cell Significance Index: 2.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0220
    Cell Significance Index: 0.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0216
    Cell Significance Index: 33.3200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0152
    Cell Significance Index: 1.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0043
    Cell Significance Index: 8.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0003
    Cell Significance Index: 0.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0004
    Cell Significance Index: -0.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0061
    Cell Significance Index: -0.1200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0073
    Cell Significance Index: -0.3200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0101
    Cell Significance Index: -7.4000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0112
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0115
    Cell Significance Index: -8.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0118
    Cell Significance Index: -8.9000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0127
    Cell Significance Index: -7.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0145
    Cell Significance Index: -6.6000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0161
    Cell Significance Index: -10.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0200
    Cell Significance Index: -2.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0210
    Cell Significance Index: -6.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0214
    Cell Significance Index: -3.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0371
    Cell Significance Index: -4.7500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.0444
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0447
    Cell Significance Index: -9.4200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0478
    Cell Significance Index: -0.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0494
    Cell Significance Index: -6.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0527
    Cell Significance Index: -7.2400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0621
    Cell Significance Index: -4.3900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0630
    Cell Significance Index: -1.2400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0655
    Cell Significance Index: -1.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0723
    Cell Significance Index: -3.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0733
    Cell Significance Index: -8.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0735
    Cell Significance Index: -7.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0755
    Cell Significance Index: -5.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0800
    Cell Significance Index: -8.3300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0845
    Cell Significance Index: -1.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0864
    Cell Significance Index: -4.8500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0922
    Cell Significance Index: -1.3900
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0983
    Cell Significance Index: -0.9900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1035
    Cell Significance Index: -8.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1124
    Cell Significance Index: -4.9700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1160
    Cell Significance Index: -3.3100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1225
    Cell Significance Index: -0.8300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1249
    Cell Significance Index: -4.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1287
    Cell Significance Index: -8.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1342
    Cell Significance Index: -5.0800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1359
    Cell Significance Index: -7.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1373
    Cell Significance Index: -7.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1417
    Cell Significance Index: -6.6600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1469
    Cell Significance Index: -2.9300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1564
    Cell Significance Index: -4.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1607
    Cell Significance Index: -5.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1610
    Cell Significance Index: -5.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1612
    Cell Significance Index: -4.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1674
    Cell Significance Index: -5.3300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1688
    Cell Significance Index: -2.1300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1702
    Cell Significance Index: -2.7000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1748
    Cell Significance Index: -1.6100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1750
    Cell Significance Index: -3.7800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1781
    Cell Significance Index: -2.5000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1903
    Cell Significance Index: -2.2200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1967
    Cell Significance Index: -7.2200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **PAS Domain:** NPAS1 contains a PAS (Per-Arnt-Sim) domain, a conserved structural motif that enables its interaction with other proteins and DNA sequences. 2. **Transcriptional Regulation:** NPAS1 acts as a transcriptional regulator by binding to specific DNA sequences and interacting with RNA polymerase II, influencing the expression of target genes. 3. **Cell-Specific Expression:** NPAS1 is expressed in a highly restricted manner, with specific cell types exhibiting high levels of expression, including interneurons, stem cells, and intestinal epithelial cells. 4. **Interactions with Other Proteins:** NPAS1 interacts with other transcription factors, including NFIA and NFIC, to modulate gene expression. **Pathways and Functions:** NPAS1 is involved in various cellular processes, including: 1. **Central Nervous System Development:** NPAS1 plays a crucial role in the development of the CNS, particularly in the formation of interneurons and the regulation of gene expression in the cerebral cortex. 2. **Maternal Behavior:** NPAS1 is involved in the regulation of maternal behavior, including the expression of genes involved in lactation and maternal care. 3. **Startle Response:** NPAS1 is also involved in the regulation of the startle response, a complex behavioral response to sudden or intense stimuli. 4. **Intestinal Epithelial Cell Function:** NPAS1 regulates the expression of genes involved in intestinal epithelial cell function, including the regulation of immune responses and the maintenance of epithelial barrier function. **Clinical Significance:** Dysregulation of NPAS1 has been implicated in various neurological and developmental disorders, including: 1. **Neurodevelopmental Disorders:** NPAS1 mutations have been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD) and schizophrenia (SCZ). 2. **CNS Disorders:** NPAS1 dysregulation has been implicated in CNS disorders, including epilepsy, Parkinson's disease (PD), and Alzheimer's disease (AD). 3. **Intestinal Disorders:** NPAS1 dysregulation has also been implicated in intestinal disorders, including inflammatory bowel disease (IBD) and cancer. In conclusion, NPAS1 is a critical transcription factor that plays a pivotal role in regulating gene expression in various cellular contexts, including the CNS and intestinal epithelium. Dysregulation of NPAS1 has been implicated in various neurological and developmental disorders, highlighting its importance in understanding the pathogenesis of these diseases and developing novel therapeutic strategies.

Genular Protein ID: 2565311860

Symbol: NPAS1_HUMAN

Name: Neuronal PAS domain-containing protein 1

UniProtKB Accession Codes:

Q99742 B4DR69 Q99632 Q9BY83

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9012850

Title: Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.

PubMed ID: 9012850

DOI: 10.1073/pnas.94.2.713

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9079689

Title: Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway.

PubMed ID: 9079689

DOI: 10.1074/jbc.272.13.8581

Sequence Information:

  • Length: 590
  • Mass: 62702
  • Checksum: CE893A0C7CEEDB09
  • Sequence:
    • MAAPYPGSGG GSEVKCVGGR GASVPWDFLP GLMVKAPSGP CLQAQRKEKS RNAARSRRGK 
ENLEFFELAK LLPLPGAISS QLDKASIVRL SVTYLRLRRF AALGAPPWGL RAAGPPAGLA 
PGRRGPAALV SEVFEQHLGG HILQSLDGFV FALNQEGKFL YISETVSIYL GLSQVEMTGS 
SVFDYIHPGD HSEVLEQLGL RTPTPGPPTP PSVSSSSSSS SSLADTPEIE ASLTKVPPSS 
LVQERSFFVR MKSTLTKRGL HVKASGYKVI HVTGRLRAHA LGLVALGHTL PPAPLAELPL 
HGHMIVFRLS LGLTILACES RVSDHMDLGP SELVGRSCYQ FVHGQDATRI RQSHVDLLDK 
GQVMTGYYRW LQRAGGFVWL QSVATVAGSG KSPGEHHVLW VSHVLSQAEG GQTPLDAFQL 
PASVACEEAS SPGPEPTEPE PPTEGKQAAP AENEAPQTQG KRIKVEPGPR ETKGSEDSGD 
EDPSSHPATP RPEFTSVIRA GVLKQDPVRP WGLAPPGDPP PTLLHAGFLP PVVRGLCTPG 
TIRYGPAELG LVYPHLQRLG PGPALPEAFY PPLGLPYPGP AGTRLPRKGD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.