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

    Gene ID: 64067, updated on 3-Jul-2016
    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
    Location:
    14q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (32934785..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 anchoring protein 6 Neighboring gene RNA, 7SL, cytoplasmic 660, pseudogene Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 2 Neighboring gene uncharacterized LOC105370443 Neighboring gene small nucleolar RNA, H/ACA box 89 Neighboring gene uncharacterized LOC107987210 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 in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    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
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    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
    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 identical proteins and their annotated locations for 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
      Related
      ENSP00000348460, OTTHUMP00000178812, ENST00000356141, OTTHUMT00000276645
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000448916, OTTHUMP00000243963, ENST00000548645, OTTHUMT00000409479
      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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
      Related
      ENSP00000350446, OTTHUMP00000243964, ENST00000357798, OTTHUMT00000409480
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      32934785..33804176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021582.1XP_016877071.1  

    2. XM_017021583.1XP_016877072.1  

    3. XM_005267991.3XP_005268048.2  

    4. XM_011537069.2XP_011535371.2  

    5. XM_017021584.1XP_016877073.1  

    6. XM_017021585.1XP_016877074.1  

    7. XM_005267992.3XP_005268049.2  

      Related
      ENSP00000450392, OTTHUMP00000243962, ENST00000551492, OTTHUMT00000409478
    8. XM_011537071.2XP_011535373.2  

      Related
      ENSP00000448373, OTTHUMP00000243961, ENST00000551634, OTTHUMT00000409477
    9. XM_011537067.2XP_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
    10. XM_011537070.2XP_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
    11. XM_011537072.2XP_011535374.1  

      See identical proteins and their annotated locations for XP_011535374.1

      UniProtKB/TrEMBL
      X5D7M0
      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
    12. XM_017021586.1XP_016877075.1  

    13. XM_017021588.1XP_016877077.1  

    14. XM_017021587.1XP_016877076.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

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