NPAS3 - neuronal PAS domain protein 3 Gene

Also Known as MOP6; PASD6; bHLHe12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64067

About NPAS3

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:32,934,785-33,804,173 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and 7 paralogues. Biased expression in brain (RPKM 3.9), endometrium (RPKM 1.3) and 4 other tissues.

Summary

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

NPAS3 Products (6)

mRNA Protein Name
NM_001164749.2 NP_001158221.1 neuronal PAS domain-containing protein 3 isoform 1
NM_001165893.2 NP_001159365.1 neuronal PAS domain-containing protein 3 isoform 4
NM_001394988.1 NP_001381917.1 neuronal PAS domain-containing protein 3 isoform 5
NM_001394989.1 NP_001381918.1 neuronal PAS domain-containing protein 3 isoform 6
NM_022123.3 NP_071406.1 neuronal PAS domain-containing protein 3 isoform 2
NM_173159.3 NP_775182.1 neuronal PAS domain-containing protein 3 isoform 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24722188 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPAS3 Protein Structure

PAS

PAS: PAS fold (152 - 212)

PAS_3

PAS_3: PAS fold (343 - 429)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 933 a.a.
Protein Preferred Names Protein Names

neuronal PAS domain-containing protein 3

  • PAS domain-containing protein 6

NPAS3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NPAS3 Q8IXF0 ARNT2 Homo sapiens Q9HBZ2 24722188
Intra
NPAS3 Q8IXF0 ARNT2 Homo sapiens Q9HBZ2 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Schizophrenia 15
  • SCZD15

  • Schizophrenia 15 With Or Without An Affective Disorder

  • Schizophrenia Susceptibility Locus, Chromosome 22q13-Related

  • Schizophrenia Susceptibility Locus Chromosome 22q13-Related

  • Schizophrenia, Type 15

Schizophrenia 18
  • SCZD18

  • Schizophrenia 18 With Or Without An Affective Disorder

  • Schizophrenia Susceptibility 18

  • Chromosome 7q36.3 Duplication Syndrome, 362-Kb

  • Schizophrenia, Type 18

Chromosome 14q11-Q22 Deletion Syndrome
  • 14q11.2 Microdeletion Syndrome

  • Zahir-Friedman Syndrome

  • Del(14)(Q11.2)

  • Monosomy 14q11.2

Holoprosencephaly 8
  • HPE8

  • Holoprosencephaly-8

Schizophrenia 1
  • SCZD1

  • Schizophrenia Susceptibility Locus, Chromosome 5-Related

  • Schizophrenia 1 With Or Without An Affective Disorder

Holoprosencephaly
  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

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
Macaca mulatta NPAS3 VGNC VGNC:75213
Mus musculus NPAS3 MGD MGI:1351610
Bos taurus NPAS3 VGNC VGNC:59355
Felis catus NPAS3 VGNC VGNC:104572
Rattus norvegicus NPAS3 RGD RGD:1307181
Canis familiaris NPAS3 VGNC VGNC:56062
Others NPAS3 NCBI