NPAS1 (neuronal PAS domain protein 1)

2014-11-01  

Identity

HGNC
NPAS1
LOCATION
19q13.32
LOCUSID
4861
ALIAS
MOP5,PASD5,bHLHe11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4861
MIM: 603346
HGNC: 7894
Ensembl: ENSG00000130751

Variants:

dbSNP: 4861
ClinVar: 4861
TCGA: ENSG00000130751
COSMIC: NPAS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130751ENST00000439365Q99742
ENSG00000130751ENST00000449844Q99742
ENSG00000130751ENST00000594257M0QX32
ENSG00000130751ENST00000594670M0R1R8
ENSG00000130751ENST00000602189M0R2M8
ENSG00000130751ENST00000602212Q99742

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
284994892017Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.17
284994892017Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.17
277828782016NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.39
277828782016NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.39

Citation

Dessen P

NPAS1 (neuronal PAS domain protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70913/npas1-(neuronal-pas-domain-protein-1)