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Q8IXF0

- NPAS3_HUMAN

UniProt

Q8IXF0 - NPAS3_HUMAN

Protein

Neuronal PAS domain-containing protein 3

Gene

NPAS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. signal transducer activity Source: InterPro

    GO - Biological processi

    1. locomotory behavior Source: Ensembl
    2. maternal behavior Source: Ensembl
    3. positive regulation of transcription, DNA-templated Source: UniProtKB
    4. startle response Source: Ensembl
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neuronal PAS domain-containing protein 3
    Short name:
    Neuronal PAS3
    Alternative name(s):
    Basic-helix-loop-helix-PAS protein MOP6
    Class E basic helix-loop-helix protein 12
    Short name:
    bHLHe12
    Member of PAS protein 6
    PAS domain-containing protein 6
    Gene namesi
    Name:NPAS3
    Synonyms:BHLHE12, MOP6, PASD6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19311. NPAS3.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving NPAS3 is found in a family with schizophrenia. Translocation t(9;14)(q34;q13).

    Organism-specific databases

    PharmGKBiPA134968746.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 933933Neuronal PAS domain-containing protein 3PRO_0000127408Add
    BLAST

    Proteomic databases

    PaxDbiQ8IXF0.
    PRIDEiQ8IXF0.

    PTM databases

    PhosphoSiteiQ8IXF0.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in the adult brain.

    Gene expression databases

    ArrayExpressiQ8IXF0.
    BgeeiQ8IXF0.
    CleanExiHS_NPAS3.
    GenevestigatoriQ8IXF0.

    Organism-specific databases

    HPAiHPA002892.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000319610.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IXF0.
    SMRiQ8IXF0. Positions 53-439.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini51 – 10454bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini147 – 21771PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini319 – 38971PAS 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini363 – 40644PACAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi231 – 2399Poly-Ser
    Compositional biasi696 – 77782Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG287666.
    HOVERGENiHBG052656.
    InParanoidiQ8IXF0.
    KOiK09098.
    PhylomeDBiQ8IXF0.
    TreeFamiTF317772.

    Family and domain databases

    InterProiIPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    [Graphical view]
    PfamiPF00989. PAS. 1 hit.
    PF08447. PAS_3. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    PROSITEiPS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IXF0-1) [UniParc]FASTAAdd to Basket

    Also known as: long form

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAPTKPSFQQ DPSRRERITA QHPLPNQSEC RKIYRYDGIY CESTYQNLQA    50
    LRKEKSRDAA RSRRGKENFE FYELAKLLPL PAAITSQLDK ASIIRLTISY 100
    LKMRDFANQG DPPWNLRMEG PPPNTSVKVI GAQRRRSPSA LAIEVFEAHL 150
    GSHILQSLDG FVFALNQEGK FLYISETVSI YLGLSQVELT GSSVFDYVHP 200
    GDHVEMAEQL GMKLPPGRGL LSQGTAEDGA SSASSSSQSE TPEPVESTSP 250
    SLLTTDNTLE RSFFIRMKST LTKRGVHIKS SGYKVIHITG RLRLRVSLSH 300
    GRTVPSQIMG LVVVAHALPP PTINEVRIDC HMFVTRVNMD LNIIYCENRI 350
    SDYMDLTPVD IVGKRCYHFI HAEDVEGIRH SHLDLLNKGQ CVTKYYRWMQ 400
    KNGGYIWIQS SATIAINAKN ANEKNIIWVN YLLSNPEYKD TPMDIAQLPH 450
    LPEKTSESSE TSDSESDSKD TSGITEDNEN SKSDEKGNQS ENSEDPEPDR 500
    KKSGNACDND MNCNDDGHSS SNPDSRDSDD SFEHSDFENP KAGEDGFGAL 550
    GAMQIKVERY VESESDLRLQ NCESLTSDSA KDSDSAGEAG AQASSKHQKR 600
    KKRRKRQKGG SASRRRLSSA SSPGGLDAGL VEPPRLLSSP NSASVLKIKT 650
    EISEPINFDN DSSIWNYPPN REISRNESPY SMTKPPSSEH FPSPQGGGGG 700
    GGGGGGLHVA IPDSVLTPPG ADGAAARKTQ FGASATAALA PVASDPLSPP 750
    LSASPRDKHP GNGGGGGGGG GGAGGGGPSA SNSLLYTGDL EALQRLQAGN 800
    VVLPLVHRVT GTLAATSTAA QRVYTTGTIR YAPAEVTLAM QSNLLPNAHA 850
    VNFVDVNSPG FGLDPKTPME MLYHHVHRLN MSGPFGGAVS AASLTQMPAG 900
    NVFTTAEGLF STLPFPVYSN GIHAAQTLER KED 933
    Length:933
    Mass (Da):100,805
    Last modified:March 1, 2003 - v1
    Checksum:i3215AC657CEDD9A9
    GO
    Isoform 2 (identifier: Q8IXF0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         18-47: Missing.

    Show »
    Length:903
    Mass (Da):97,231
    Checksum:iEF48D82F79966428
    GO
    Isoform 3 (identifier: Q8IXF0-3) [UniParc]FASTAAdd to Basket

    Also known as: NPAS3v

    The sequence of this isoform differs from the canonical sequence as follows:
         18-47: Missing.
         128-128: K → KGIQMWKSELCMRKTPCE

    Show »
    Length:920
    Mass (Da):99,254
    Checksum:iDD2D7FAAF759E1A4
    GO
    Isoform 4 (identifier: Q8IXF0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         18-47: Missing.
         129-130: Missing.

    Show »
    Length:901
    Mass (Da):97,019
    Checksum:i70D50DCA3A04B572
    GO
    Isoform 5 (identifier: Q8IXF0-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.
         129-130: Missing.
         246-257: ESTSPSLLTTDN → VCFPPASDQFLL
         258-933: Missing.

    Show »
    Length:153
    Mass (Da):16,462
    Checksum:i2E886042102C452B
    GO
    Isoform 6 (identifier: Q8IXF0-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         246-257: ESTSPSLLTTDN → VCFPPASDQFLL
         258-933: Missing.

    Show »
    Length:257
    Mass (Da):28,563
    Checksum:i7009B65C18A81FC7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti65 – 651G → E in CAB45154. 1 PublicationCurated
    Sequence conflicti79 – 813PLP → LS in CAB45154. 1 PublicationCurated
    Sequence conflicti552 – 5521A → P in AAO17043. (PubMed:12746393)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 102102Missing in isoform 5. 1 PublicationVSP_009084Add
    BLAST
    Alternative sequencei18 – 4730Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_009085Add
    BLAST
    Alternative sequencei128 – 1281K → KGIQMWKSELCMRKTPCE in isoform 3. 1 PublicationVSP_009087
    Alternative sequencei129 – 1302Missing in isoform 4 and isoform 5. 2 PublicationsVSP_009086
    Alternative sequencei246 – 25712ESTSP…LTTDN → VCFPPASDQFLL in isoform 5 and isoform 6. 2 PublicationsVSP_009088Add
    BLAST
    Alternative sequencei258 – 933676Missing in isoform 5 and isoform 6. 2 PublicationsVSP_009089Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB055962 mRNA. Translation: BAC53756.1.
    AB054575 mRNA. Translation: BAB21221.1.
    AB054576 mRNA. Translation: BAC53754.1.
    AF164438 mRNA. Translation: AAG35180.1.
    AY157302 mRNA. Translation: AAO17043.1.
    AY157303 mRNA. Translation: AAO17044.1.
    AL079281 mRNA. Translation: CAB45154.1.
    CCDSiCCDS53891.1. [Q8IXF0-1]
    CCDS53892.1. [Q8IXF0-3]
    CCDS55912.1. [Q8IXF0-2]
    CCDS9645.1. [Q8IXF0-4]
    RefSeqiNP_001158221.1. NM_001164749.1. [Q8IXF0-1]
    NP_001159365.1. NM_001165893.1. [Q8IXF0-2]
    NP_071406.1. NM_022123.2. [Q8IXF0-4]
    NP_775182.1. NM_173159.2. [Q8IXF0-3]
    UniGeneiHs.657892.
    Hs.675437.
    Hs.675475.

    Genome annotation databases

    EnsembliENST00000346562; ENSP00000319610; ENSG00000151322. [Q8IXF0-4]
    ENST00000356141; ENSP00000348460; ENSG00000151322. [Q8IXF0-1]
    ENST00000357798; ENSP00000350446; ENSG00000151322. [Q8IXF0-3]
    ENST00000547068; ENSP00000449542; ENSG00000151322. [Q8IXF0-5]
    ENST00000548645; ENSP00000448916; ENSG00000151322. [Q8IXF0-2]
    GeneIDi64067.
    KEGGihsa:64067.
    UCSCiuc001wrs.3. human. [Q8IXF0-3]
    uc001wrt.3. human. [Q8IXF0-4]
    uc001wru.3. human. [Q8IXF0-1]
    uc001wrv.3. human. [Q8IXF0-2]

    Polymorphism databases

    DMDMi38604888.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB055962 mRNA. Translation: BAC53756.1 .
    AB054575 mRNA. Translation: BAB21221.1 .
    AB054576 mRNA. Translation: BAC53754.1 .
    AF164438 mRNA. Translation: AAG35180.1 .
    AY157302 mRNA. Translation: AAO17043.1 .
    AY157303 mRNA. Translation: AAO17044.1 .
    AL079281 mRNA. Translation: CAB45154.1 .
    CCDSi CCDS53891.1. [Q8IXF0-1 ]
    CCDS53892.1. [Q8IXF0-3 ]
    CCDS55912.1. [Q8IXF0-2 ]
    CCDS9645.1. [Q8IXF0-4 ]
    RefSeqi NP_001158221.1. NM_001164749.1. [Q8IXF0-1 ]
    NP_001159365.1. NM_001165893.1. [Q8IXF0-2 ]
    NP_071406.1. NM_022123.2. [Q8IXF0-4 ]
    NP_775182.1. NM_173159.2. [Q8IXF0-3 ]
    UniGenei Hs.657892.
    Hs.675437.
    Hs.675475.

    3D structure databases

    ProteinModelPortali Q8IXF0.
    SMRi Q8IXF0. Positions 53-439.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000319610.

    PTM databases

    PhosphoSitei Q8IXF0.

    Polymorphism databases

    DMDMi 38604888.

    Proteomic databases

    PaxDbi Q8IXF0.
    PRIDEi Q8IXF0.

    Protocols and materials databases

    DNASUi 64067.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000346562 ; ENSP00000319610 ; ENSG00000151322 . [Q8IXF0-4 ]
    ENST00000356141 ; ENSP00000348460 ; ENSG00000151322 . [Q8IXF0-1 ]
    ENST00000357798 ; ENSP00000350446 ; ENSG00000151322 . [Q8IXF0-3 ]
    ENST00000547068 ; ENSP00000449542 ; ENSG00000151322 . [Q8IXF0-5 ]
    ENST00000548645 ; ENSP00000448916 ; ENSG00000151322 . [Q8IXF0-2 ]
    GeneIDi 64067.
    KEGGi hsa:64067.
    UCSCi uc001wrs.3. human. [Q8IXF0-3 ]
    uc001wrt.3. human. [Q8IXF0-4 ]
    uc001wru.3. human. [Q8IXF0-1 ]
    uc001wrv.3. human. [Q8IXF0-2 ]

    Organism-specific databases

    CTDi 64067.
    GeneCardsi GC14P033408.
    HGNCi HGNC:19311. NPAS3.
    HPAi HPA002892.
    MIMi 609430. gene.
    neXtProti NX_Q8IXF0.
    PharmGKBi PA134968746.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287666.
    HOVERGENi HBG052656.
    InParanoidi Q8IXF0.
    KOi K09098.
    PhylomeDBi Q8IXF0.
    TreeFami TF317772.

    Miscellaneous databases

    GenomeRNAii 64067.
    NextBioi 65842.
    PROi Q8IXF0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IXF0.
    Bgeei Q8IXF0.
    CleanExi HS_NPAS3.
    Genevestigatori Q8IXF0.

    Family and domain databases

    InterProi IPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    [Graphical view ]
    Pfami PF00989. PAS. 1 hit.
    PF08447. PAS_3. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    PROSITEi PS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Splicing variants of human NPAS3."
      Ohe N., Saito K., Kaneko H.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Fetal brain.
    2. "Cloning and chromosomal localization of MOP6."
      Thomas R.S., Bradfield C.A.
      Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    3. "Disruption of the neuronal PAS3 gene in a family affected with schizophrenia."
      Kamnasaran D., Muir W.J., Ferguson-Smith M.A., Cox D.W.
      J. Med. Genet. 40:325-332(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), SUBCELLULAR LOCATION.
      Tissue: Fetal brain.
    4. The European IMAGE consortium
      Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 58-933 (ISOFORM 6).

    Entry informationi

    Entry nameiNPAS3_HUMAN
    AccessioniPrimary (citable) accession number: Q8IXF0
    Secondary accession number(s): Q86US6
    , Q86US7, Q8IXF2, Q9BY81, Q9H323, Q9Y4L8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2003
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3