1. Gene
  2. NPAS1 - neuronal PAS domain protein 1 Gene

NPAS1 - neuronal PAS domain protein 1 Gene

Homo sapiens

Also known as MOP5; PASD5; bHLHe11

Gene ID: 4861 | Gene type: protein coding

About NPAS1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,019,837-47,045,775 (from NCBI)

This gene has 8 transcripts (splice variants), 180 orthologues and 7 paralogues. Biased expression in brain (RPKM 1.1), stomach (RPKM 0.8) and 8 other tissues.

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]

NPAS1 Products(2)

mRNA Protein Name
NM_001321086.2 NP_001308015.1 neuronal PAS domain-containing protein 1 isoform 2
NM_002517.4 NP_002508.2 neuronal PAS domain-containing protein 1 isoform 1

NPAS1 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (52 - 96)

PAS

PAS: PAS fold (141 - 198)

PAS_3

PAS_3: PAS fold (316 - 388)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 590 a.a.
Protein Preferred Names Protein Names

neuronal PAS domain-containing protein 1

PAS domain-containing protein 5

Related Diseases

Diseases Alias
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus NPAS1 VGNC VGNC:68525
Macaca mulatta NPAS1 VGNC VGNC:75377
Rattus norvegicus NPAS1 RGD RGD:1310040
Mus musculus NPAS1 MGD MGI:109205
Bos taurus NPAS1 VGNC VGNC:32189
Canis familiaris NPAS1 VGNC VGNC:43908