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Q99742 (NPAS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NPAS1
Synonyms:BHLHE11, MOP5, PASD5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length590 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus Potential.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 2 PAS (PER-ARNT-SIM) domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99742-1)

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.
Isoform 2 (identifier: Q99742-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 590590Neuronal PAS domain-containing protein 1
PRO_0000127404

Regions

Domain45 – 9854bHLH
Domain135 – 20773PAS 1
Domain293 – 35967PAS 2
Domain365 – 40844PAC
Compositional bias211 – 22212Poly-Ser

Natural variations

Alternative sequence1 – 176176Missing in isoform 2.
VSP_054280
Alternative sequence357 – 41054LLDKG…SQAEG → SCRGLRVAAVCGHSGWEREE PRGAPCALGQPRAQPSRGWP NSFGCLPASSQRGL in isoform 2.
VSP_054281
Alternative sequence411 – 590180Missing in isoform 2.
VSP_054282

Experimental info

Sequence conflict801S → I in AAB47248. Ref.1
Sequence conflict110 – 13425LRAAG…VSEVF → NSRRPALRAAAAGARPAGGP GSQPP Ref.6
Sequence conflict2031P → T in AAB47248. Ref.1
Sequence conflict2111P → S in AAB47248. Ref.1
Sequence conflict4491A → V in AAB47248. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 15, 2005. Version 2.
Checksum: CE893A0C7CEEDB09

FASTA59062,702
        10         20         30         40         50         60 
MAAPYPGSGG GSEVKCVGGR GASVPWDFLP GLMVKAPSGP CLQAQRKEKS RNAARSRRGK 

        70         80         90        100        110        120 
ENLEFFELAK LLPLPGAISS QLDKASIVRL SVTYLRLRRF AALGAPPWGL RAAGPPAGLA 

       130        140        150        160        170        180 
PGRRGPAALV SEVFEQHLGG HILQSLDGFV FALNQEGKFL YISETVSIYL GLSQVEMTGS 

       190        200        210        220        230        240 
SVFDYIHPGD HSEVLEQLGL RTPTPGPPTP PSVSSSSSSS SSLADTPEIE ASLTKVPPSS 

       250        260        270        280        290        300 
LVQERSFFVR MKSTLTKRGL HVKASGYKVI HVTGRLRAHA LGLVALGHTL PPAPLAELPL 

       310        320        330        340        350        360 
HGHMIVFRLS LGLTILACES RVSDHMDLGP SELVGRSCYQ FVHGQDATRI RQSHVDLLDK 

       370        380        390        400        410        420 
GQVMTGYYRW LQRAGGFVWL QSVATVAGSG KSPGEHHVLW VSHVLSQAEG GQTPLDAFQL 

       430        440        450        460        470        480 
PASVACEEAS SPGPEPTEPE PPTEGKQAAP AENEAPQTQG KRIKVEPGPR ETKGSEDSGD 

       490        500        510        520        530        540 
EDPSSHPATP RPEFTSVIRA GVLKQDPVRP WGLAPPGDPP PTLLHAGFLP PVVRGLCTPG 

       550        560        570        580        590 
TIRYGPAELG LVYPHLQRLG PGPALPEAFY PPLGLPYPGP AGTRLPRKGD 

« Hide

Isoform 2 [UniParc].

Checksum: 2133699ECE363C9B
Show »

FASTA23425,021

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_002508.2. NM_002517.2.
UniGeneHs.79564.

3D structure databases

ProteinModelPortalQ99742.
SMRQ99742. Positions 44-406.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000253050.

Polymorphism databases

DMDM59803108.

Proteomic databases

PaxDbQ99742.
PRIDEQ99742.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000439365; ENSP00000398689; ENSG00000130751.
ENST00000449844; ENSP00000405290; ENSG00000130751.
ENST00000602212; ENSP00000469142; ENSG00000130751.
GeneID4861.
KEGGhsa:4861.
UCSCuc002pfw.3. human.

Organism-specific databases

CTD4861.
GeneCardsGC19P047523.
HGNCHGNC:7894. NPAS1.
MIM603346. gene.
neXtProtNX_Q99742.
PharmGKBPA31695.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287666.
HOGENOMHOG000236298.
HOVERGENHBG052655.
InParanoidQ99742.
KOK09098.
OMAVPWDFLP.
OrthoDBEOG718KBW.
PhylomeDBQ99742.
TreeFamTF317772.

Gene expression databases

ArrayExpressQ99742.
BgeeQ99742.
CleanExHS_NPAS1.
GenevestigatorQ99742.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
[Graphical view]
PfamPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
PF08447. PAS_3. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 2 hits.
PROSITEPS50888. BHLH. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi4861.
NextBio18726.
PROQ99742.
SOURCESearch...

Entry information

Entry nameNPAS1_HUMAN
AccessionPrimary (citable) accession number: Q99742
Secondary accession number(s): B4DR69, Q99632, Q9BY83
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: February 15, 2005
Last modified: April 16, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM