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Q99742

- NPAS1_HUMAN

UniProt

Q99742 - NPAS1_HUMAN

Protein

Neuronal PAS domain-containing protein 1

Gene

NPAS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc
    3. signal transducer activity Source: InterPro

    GO - Biological processi

    1. central nervous system development Source: ProtInc
    2. maternal behavior Source: Ensembl
    3. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    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 1
    Short name:
    Neuronal PAS1
    Alternative name(s):
    Basic-helix-loop-helix-PAS protein MOP5
    Class E basic helix-loop-helix protein 11
    Short name:
    bHLHe11
    Member of PAS protein 5
    PAS domain-containing protein 5
    Gene namesi
    Name:NPAS1
    Synonyms:BHLHE11, MOP5, PASD5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:7894. NPAS1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31695.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 590590Neuronal PAS domain-containing protein 1PRO_0000127404Add
    BLAST

    Proteomic databases

    PaxDbiQ99742.
    PRIDEiQ99742.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99742.
    BgeeiQ99742.
    CleanExiHS_NPAS1.
    GenevestigatoriQ99742.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ARNT By similarity.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000253050.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99742.
    SMRiQ99742. Positions 47-406.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini45 – 9854bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini135 – 20773PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini293 – 35967PAS 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini365 – 40844PACAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi211 – 22212Poly-SerAdd
    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.
    HOGENOMiHOG000236298.
    HOVERGENiHBG052655.
    InParanoidiQ99742.
    KOiK09098.
    OMAiVPWDFLP.
    OrthoDBiEOG718KBW.
    PhylomeDBiQ99742.
    TreeFamiTF317772.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    PF00989. 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. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99742-1) [UniParc]FASTAAdd to Basket

    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

    MAAPYPGSGG GSEVKCVGGR GASVPWDFLP GLMVKAPSGP CLQAQRKEKS    50
    RNAARSRRGK ENLEFFELAK LLPLPGAISS QLDKASIVRL SVTYLRLRRF 100
    AALGAPPWGL RAAGPPAGLA PGRRGPAALV SEVFEQHLGG HILQSLDGFV 150
    FALNQEGKFL YISETVSIYL GLSQVEMTGS SVFDYIHPGD HSEVLEQLGL 200
    RTPTPGPPTP PSVSSSSSSS SSLADTPEIE ASLTKVPPSS LVQERSFFVR 250
    MKSTLTKRGL HVKASGYKVI HVTGRLRAHA LGLVALGHTL PPAPLAELPL 300
    HGHMIVFRLS LGLTILACES RVSDHMDLGP SELVGRSCYQ FVHGQDATRI 350
    RQSHVDLLDK GQVMTGYYRW LQRAGGFVWL QSVATVAGSG KSPGEHHVLW 400
    VSHVLSQAEG GQTPLDAFQL PASVACEEAS SPGPEPTEPE PPTEGKQAAP 450
    AENEAPQTQG KRIKVEPGPR ETKGSEDSGD EDPSSHPATP RPEFTSVIRA 500
    GVLKQDPVRP WGLAPPGDPP PTLLHAGFLP PVVRGLCTPG TIRYGPAELG 550
    LVYPHLQRLG PGPALPEAFY PPLGLPYPGP AGTRLPRKGD 590
    Length:590
    Mass (Da):62,702
    Last modified:February 15, 2005 - v2
    Checksum:iCE893A0C7CEEDB09
    GO
    Isoform 2 (identifier: Q99742-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-176: Missing.
         357-410: LLDKGQVMTG...VSHVLSQAEG → SCRGLRVAAV...CLPASSQRGL
         411-590: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:234
    Mass (Da):25,021
    Checksum:i2133699ECE363C9B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti80 – 801S → I in AAB47248. (PubMed:9012850)Curated
    Sequence conflicti110 – 13425LRAAG…VSEVF → NSRRPALRAAAAGARPAGGP GSQPP(PubMed:9079689)CuratedAdd
    BLAST
    Sequence conflicti203 – 2031P → T in AAB47248. (PubMed:9012850)Curated
    Sequence conflicti211 – 2111P → S in AAB47248. (PubMed:9012850)Curated
    Sequence conflicti449 – 4491A → V in AAB47248. (PubMed:9012850)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 176176Missing in isoform 2. 1 PublicationVSP_054280Add
    BLAST
    Alternative sequencei357 – 41054LLDKG…SQAEG → SCRGLRVAAVCGHSGWEREE PRGAPCALGQPRAQPSRGWP NSFGCLPASSQRGL in isoform 2. 1 PublicationVSP_054281Add
    BLAST
    Alternative sequencei411 – 590180Missing in isoform 2. 1 PublicationVSP_054282Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77968 mRNA. Translation: AAB47248.1.
    AB054002 mRNA. Translation: BAB21098.1.
    AK299128 mRNA. Translation: BAG61181.1.
    AC008755 Genomic DNA. No translation available.
    BC039016 mRNA. Translation: AAH39016.1.
    U51628 mRNA. Translation: AAC51214.1.
    CCDSiCCDS12694.1. [Q99742-1]
    RefSeqiNP_002508.2. NM_002517.2. [Q99742-1]
    UniGeneiHs.79564.

    Genome annotation databases

    EnsembliENST00000439365; ENSP00000398689; ENSG00000130751. [Q99742-2]
    ENST00000449844; ENSP00000405290; ENSG00000130751. [Q99742-1]
    ENST00000602212; ENSP00000469142; ENSG00000130751. [Q99742-1]
    GeneIDi4861.
    KEGGihsa:4861.
    UCSCiuc002pfw.3. human. [Q99742-1]

    Polymorphism databases

    DMDMi59803108.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77968 mRNA. Translation: AAB47248.1 .
    AB054002 mRNA. Translation: BAB21098.1 .
    AK299128 mRNA. Translation: BAG61181.1 .
    AC008755 Genomic DNA. No translation available.
    BC039016 mRNA. Translation: AAH39016.1 .
    U51628 mRNA. Translation: AAC51214.1 .
    CCDSi CCDS12694.1. [Q99742-1 ]
    RefSeqi NP_002508.2. NM_002517.2. [Q99742-1 ]
    UniGenei Hs.79564.

    3D structure databases

    ProteinModelPortali Q99742.
    SMRi Q99742. Positions 47-406.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000253050.

    Polymorphism databases

    DMDMi 59803108.

    Proteomic databases

    PaxDbi Q99742.
    PRIDEi Q99742.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000439365 ; ENSP00000398689 ; ENSG00000130751 . [Q99742-2 ]
    ENST00000449844 ; ENSP00000405290 ; ENSG00000130751 . [Q99742-1 ]
    ENST00000602212 ; ENSP00000469142 ; ENSG00000130751 . [Q99742-1 ]
    GeneIDi 4861.
    KEGGi hsa:4861.
    UCSCi uc002pfw.3. human. [Q99742-1 ]

    Organism-specific databases

    CTDi 4861.
    GeneCardsi GC19P047523.
    HGNCi HGNC:7894. NPAS1.
    MIMi 603346. gene.
    neXtProti NX_Q99742.
    PharmGKBi PA31695.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287666.
    HOGENOMi HOG000236298.
    HOVERGENi HBG052655.
    InParanoidi Q99742.
    KOi K09098.
    OMAi VPWDFLP.
    OrthoDBi EOG718KBW.
    PhylomeDBi Q99742.
    TreeFami TF317772.

    Miscellaneous databases

    GenomeRNAii 4861.
    NextBioi 18726.
    PROi Q99742.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99742.
    Bgeei Q99742.
    CleanExi HS_NPAS1.
    Genevestigatori Q99742.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    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. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system."
      Zhou Y.-D., Barnard M., Tian H., Li X., Ring H.Z., Francke U., Shelton J., Richardson J., Russell D.W., McKnight S.L.
      Proc. Natl. Acad. Sci. U.S.A. 94:713-718(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The sequence variation of human neuronal PAS domain protein 1 (NPAS1)."
      Ohe N., Saito K., Kaneko H.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    6. "Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway."
      Hogenesch J.B., Chan W.K., Jackiw V.H., Brown R.C., Gu Y.-Z., Pray-Grant M., Perdew G.H., Bradfield C.A.
      J. Biol. Chem. 272:8581-8593(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 110-590 (ISOFORM 1).
      Tissue: Hepatoma.

    Entry informationi

    Entry nameiNPAS1_HUMAN
    AccessioniPrimary (citable) accession number: Q99742
    Secondary accession number(s): B4DR69, Q99632, Q9BY83
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 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 19
      Human chromosome 19: 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