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Q99742

- NPAS1_HUMAN

UniProt

Q99742 - NPAS1_HUMAN

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Protein
Neuronal PAS domain-containing protein 1
Gene
NPAS1, BHLHE11, MOP5, PASD5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

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.

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
Complete GO annotation...

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 Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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 1
PRO_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.

Protein-protein interaction databases

STRINGi9606.ENSP00000253050.

Structurei

3D structure databases

ProteinModelPortaliQ99742.
SMRiQ99742. Positions 47-406.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 9854bHLH
Add
BLAST
Domaini135 – 20773PAS 1
Add
BLAST
Domaini293 – 35967PAS 2
Add
BLAST
Domaini365 – 40844PAC
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi211 – 22212Poly-Ser
Add
BLAST

Sequence similaritiesi

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 176176Missing in isoform 2.
VSP_054280Add
BLAST
Alternative sequencei357 – 41054LLDKG…SQAEG → SCRGLRVAAVCGHSGWEREE PRGAPCALGQPRAQPSRGWP NSFGCLPASSQRGL in isoform 2.
VSP_054281Add
BLAST
Alternative sequencei411 – 590180Missing in isoform 2.
VSP_054282Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti80 – 801S → I in AAB47248. 1 Publication
Sequence conflicti110 – 13425LRAAG…VSEVF → NSRRPALRAAAAGARPAGGP GSQPP1 Publication
Add
BLAST
Sequence conflicti203 – 2031P → T in AAB47248. 1 Publication
Sequence conflicti211 – 2111P → S in AAB47248. 1 Publication
Sequence conflicti449 – 4491A → V in AAB47248. 1 Publication

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.
ENST00000449844; ENSP00000405290; ENSG00000130751.
ENST00000602212; ENSP00000469142; ENSG00000130751.
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 .
ENST00000449844 ; ENSP00000405290 ; ENSG00000130751 .
ENST00000602212 ; ENSP00000469142 ; ENSG00000130751 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 129 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

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