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Protein

Neuronal PAS domain-containing protein 1

Gene

NPAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).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 PROSITE-ProRule annotation

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 1PRO_0000127404Add
BLAST

Proteomic databases

PaxDbiQ99742.
PRIDEiQ99742.

Expressioni

Gene expression databases

BgeeiQ99742.
CleanExiHS_NPAS1.
ExpressionAtlasiQ99742. baseline and differential.
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.
GeneTreeiENSGT00760000118788.
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

        10         20         30         40         50
MAAPYPGSGG GSEVKCVGGR GASVPWDFLP GLMVKAPSGP CLQAQRKEKS
60 70 80 90 100
RNAARSRRGK ENLEFFELAK LLPLPGAISS QLDKASIVRL SVTYLRLRRF
110 120 130 140 150
AALGAPPWGL RAAGPPAGLA PGRRGPAALV SEVFEQHLGG HILQSLDGFV
160 170 180 190 200
FALNQEGKFL YISETVSIYL GLSQVEMTGS SVFDYIHPGD HSEVLEQLGL
210 220 230 240 250
RTPTPGPPTP PSVSSSSSSS SSLADTPEIE ASLTKVPPSS LVQERSFFVR
260 270 280 290 300
MKSTLTKRGL HVKASGYKVI HVTGRLRAHA LGLVALGHTL PPAPLAELPL
310 320 330 340 350
HGHMIVFRLS LGLTILACES RVSDHMDLGP SELVGRSCYQ FVHGQDATRI
360 370 380 390 400
RQSHVDLLDK GQVMTGYYRW LQRAGGFVWL QSVATVAGSG KSPGEHHVLW
410 420 430 440 450
VSHVLSQAEG GQTPLDAFQL PASVACEEAS SPGPEPTEPE PPTEGKQAAP
460 470 480 490 500
AENEAPQTQG KRIKVEPGPR ETKGSEDSGD EDPSSHPATP RPEFTSVIRA
510 520 530 540 550
GVLKQDPVRP WGLAPPGDPP PTLLHAGFLP PVVRGLCTPG TIRYGPAELG
560 570 580 590
LVYPHLQRLG PGPALPEAFY PPLGLPYPGP AGTRLPRKGD
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

STRINGi9606.ENSP00000253050.

Polymorphism databases

DMDMi59803108.

Proteomic databases

PaxDbiQ99742.
PRIDEiQ99742.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi4861.
GeneCardsiGC19P047523.
HGNCiHGNC:7894. NPAS1.
MIMi603346. gene.
neXtProtiNX_Q99742.
PharmGKBiPA31695.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG287666.
GeneTreeiENSGT00760000118788.
HOGENOMiHOG000236298.
HOVERGENiHBG052655.
InParanoidiQ99742.
KOiK09098.
OMAiVPWDFLP.
OrthoDBiEOG718KBW.
PhylomeDBiQ99742.
TreeFamiTF317772.

Miscellaneous databases

GenomeRNAii4861.
NextBioi18726.
PROiQ99742.
SOURCEiSearch...

Gene expression databases

BgeeiQ99742.
CleanExiHS_NPAS1.
ExpressionAtlasiQ99742. baseline and differential.
GenevestigatoriQ99742.

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]
ProtoNetiSearch...

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: January 7, 2015
This is version 132 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.