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NPAS3 neuronal PAS domain protein 3 [ Homo sapiens (human) ]

Gene ID: 64067, updated on 5-Apr-2015
Official Symbol
NPAS3provided by HGNC
Official Full Name
neuronal PAS domain protein 3provided by HGNC
Primary source
HGNC:HGNC:19311
See related
Ensembl:ENSG00000151322; HPRD:11400; MIM:609430; Vega:OTTHUMG00000140215
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
MOP6; PASD6; bHLHe12
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 mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Orthologs
See NPAS3 in MapViewer
Location:
14q13.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (32934909..33804176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (33404115..34273382)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene A kinase (PRKA) anchor protein 6 Neighboring gene MT-CO1 pseudogene 2 Neighboring gene uncharacterized LOC105370441 Neighboring gene uncharacterized LOC105370443 Neighboring gene uncharacterized LOC105370442 Neighboring gene uncharacterized LOC102724945 Neighboring gene uncharacterized LOC105370446 Neighboring gene egl-9 family hypoxia-inducible factor 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
NHGRI GWA Catalog
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
NHGRI GWA Catalog
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
NHGRI GWA Catalog
Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10003, FLJ11138, FLJ11605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
startle response IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
neuronal PAS domain-containing protein 3
Names
neuronal PAS domain-containing protein 3
PAS domain-containing protein 6
basic-helix-loop-helix-PAS protein MOP6
class E basic helix-loop-helix protein 12
member of PAS protein 6
neuronal PAS3

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.

Genomic

  1. NG_013036.1 RefSeqGene

    Range
    5001..869924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164749.1NP_001158221.1  neuronal PAS domain-containing protein 3 isoform 1

    See proteins identical to NP_001158221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB055962, AI811363, AL157689, AY157302
    Consensus CDS
    CCDS53891.1
    UniProtKB/Swiss-Prot
    Q8IXF0
    UniProtKB/TrEMBL
    X5D2Q4
    Conserved Domains (5) summary
    pfam11200
    Location:440544
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:52109
    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, ...
    cd00130
    Location:331413
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:150210
    PAS; PAS fold
    pfam08447
    Location:343430
    PAS_3; PAS fold
  2. NM_001165893.1NP_001159365.1  neuronal PAS domain-containing protein 3 isoform 4

    See proteins identical to NP_001159365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AB054575, AI811363, AL109769, AL157689
    Consensus CDS
    CCDS55912.1
    UniProtKB/Swiss-Prot
    Q8IXF0
    UniProtKB/TrEMBL
    X5D988
    Conserved Domains (5) summary
    pfam11200
    Location:410514
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:301383
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:120180
    PAS; PAS fold
    pfam08447
    Location:313400
    PAS_3; PAS fold
  3. NM_022123.2NP_071406.1  neuronal PAS domain-containing protein 3 isoform 2

    See proteins identical to NP_071406.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AF164438, AI811363, AL157689
    Consensus CDS
    CCDS9645.1
    UniProtKB/Swiss-Prot
    Q8IXF0
    Related
    ENSP00000319610, OTTHUMP00000178811, ENST00000346562, OTTHUMT00000276644
    Conserved Domains (5) summary
    pfam11200
    Location:408512
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:299381
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:118178
    PAS; PAS fold
    pfam08447
    Location:311398
    PAS_3; PAS fold
  4. NM_173159.2NP_775182.1  neuronal PAS domain-containing protein 3 isoform 3

    See proteins identical to NP_775182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AB054576, AF164438, AI811363, AL157689
    Consensus CDS
    CCDS53892.1
    UniProtKB/Swiss-Prot
    Q8IXF0
    Conserved Domains (5) summary
    pfam11200
    Location:427531
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:318400
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:137197
    PAS; PAS fold
    pfam08447
    Location:330417
    PAS_3; PAS fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    32934909..33804176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267991.2XP_005268048.1  

    Conserved Domains (5) summary
    pfam11200
    Location:447551
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:59116
    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, ...
    cd00130
    Location:338420
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:157217
    PAS; PAS fold
    pfam08447
    Location:350437
    PAS_3; PAS fold
  2. XM_011537069.1XP_011535371.1  

    Conserved Domains (4) summary
    cd00083
    Location:59116
    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, ...
    cd00130
    Location:338420
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:157217
    PAS; PAS fold
    pfam08447
    Location:350437
    PAS_3; PAS fold
  3. XM_005267992.2XP_005268049.1  

    UniProtKB/TrEMBL
    F8VR32
    Conserved Domains (5) summary
    pfam11200
    Location:445549
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:59116
    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, ...
    cd00130
    Location:336418
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:155215
    PAS; PAS fold
    pfam08447
    Location:348435
    PAS_3; PAS fold
  4. XM_011537071.1XP_011535373.1  

    Conserved Domains (4) summary
    cd00083
    Location:2986
    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, ...
    cd00130
    Location:308390
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:127187
    PAS; PAS fold
    pfam08447
    Location:320407
    PAS_3; PAS fold
  5. XM_005267993.2XP_005268050.1  

    Conserved Domains (5) summary
    pfam11200
    Location:427531
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:318400
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:137197
    PAS; PAS fold
    pfam08447
    Location:330417
    PAS_3; PAS fold
  6. XM_011537067.1XP_011535369.1  

    Conserved Domains (5) summary
    pfam11200
    Location:457561
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:52109
    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, ...
    cd00130
    Location:348430
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:167227
    PAS; PAS fold
    pfam08447
    Location:360447
    PAS_3; PAS fold
  7. XM_011537068.1XP_011535370.1  

    Conserved Domains (4) summary
    cd00083
    Location:52109
    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, ...
    cd00130
    Location:348430
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:167227
    PAS; PAS fold
    pfam08447
    Location:360447
    PAS_3; PAS fold
  8. XM_011537070.1XP_011535372.1  

    Conserved Domains (5) summary
    pfam11200
    Location:425529
    DUF2981; Protein of unknown function (DUF2981)
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:316398
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:135195
    PAS; PAS fold
    pfam08447
    Location:328415
    PAS_3; PAS fold
  9. XM_011537072.1XP_011535374.1  

    See proteins identical to XP_011535374.1

    Conserved Domains (4) summary
    cd00083
    Location:2279
    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, ...
    cd00130
    Location:301383
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:120180
    PAS; PAS fold
    pfam08447
    Location:313400
    PAS_3; PAS fold
  10. XM_011537073.1XP_011535375.1  

    See proteins identical to XP_011535375.1

    Conserved Domains (4) summary
    pfam11200
    Location:338442
    DUF2981; Protein of unknown function (DUF2981)
    cd00130
    Location:229311
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:48108
    PAS; PAS fold
    pfam08447
    Location:241328
    PAS_3; PAS fold
  11. XM_011537074.1XP_011535376.1  

    See proteins identical to XP_011535376.1

    Conserved Domains (4) summary
    pfam11200
    Location:338442
    DUF2981; Protein of unknown function (DUF2981)
    cd00130
    Location:229311
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:48108
    PAS; PAS fold
    pfam08447
    Location:241328
    PAS_3; PAS fold

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    33407064..34271980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)