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Q8IXF0 (NPAS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. 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 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 names
Name:NPAS3
Synonyms:BHLHE12, MOP6, PASD6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length933 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein.

Subcellular location

Nucleus Ref.3.

Tissue specificity

Ubiquitously expressed in the adult brain.

Involvement in disease

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

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 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IXF0-1)

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.
Isoform 2 (identifier: Q8IXF0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.
Isoform 3 (identifier: Q8IXF0-3)

Also known as: NPAS3v;

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.
     128-128: K → KGIQMWKSELCMRKTPCE
Isoform 4 (identifier: Q8IXF0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.
     129-130: Missing.
Isoform 5 (identifier: Q8IXF0-5)

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.
Isoform 6 (identifier: Q8IXF0-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 933933Neuronal PAS domain-containing protein 3
PRO_0000127408

Regions

Domain51 – 10454bHLH
Domain147 – 21771PAS 1
Domain319 – 38971PAS 2
Domain363 – 40644PAC
Compositional bias231 – 2399Poly-Ser
Compositional bias696 – 77782Gly-rich

Natural variations

Alternative sequence1 – 102102Missing in isoform 5.
VSP_009084
Alternative sequence18 – 4730Missing in isoform 2, isoform 3 and isoform 4.
VSP_009085
Alternative sequence1281K → KGIQMWKSELCMRKTPCE in isoform 3.
VSP_009087
Alternative sequence129 – 1302Missing in isoform 4 and isoform 5.
VSP_009086
Alternative sequence246 – 25712ESTSP…LTTDN → VCFPPASDQFLL in isoform 5 and isoform 6.
VSP_009088
Alternative sequence258 – 933676Missing in isoform 5 and isoform 6.
VSP_009089

Experimental info

Sequence conflict651G → E in CAB45154. Ref.4
Sequence conflict79 – 813PLP → LS in CAB45154. Ref.4
Sequence conflict5521A → P in AAO17043. Ref.3

Sequences

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

Last modified March 1, 2003. Version 1.
Checksum: 3215AC657CEDD9A9

FASTA933100,805
        10         20         30         40         50         60 
MAPTKPSFQQ DPSRRERITA QHPLPNQSEC RKIYRYDGIY CESTYQNLQA LRKEKSRDAA 

        70         80         90        100        110        120 
RSRRGKENFE FYELAKLLPL PAAITSQLDK ASIIRLTISY LKMRDFANQG DPPWNLRMEG 

       130        140        150        160        170        180 
PPPNTSVKVI GAQRRRSPSA LAIEVFEAHL GSHILQSLDG FVFALNQEGK FLYISETVSI 

       190        200        210        220        230        240 
YLGLSQVELT GSSVFDYVHP GDHVEMAEQL GMKLPPGRGL LSQGTAEDGA SSASSSSQSE 

       250        260        270        280        290        300 
TPEPVESTSP SLLTTDNTLE RSFFIRMKST LTKRGVHIKS SGYKVIHITG RLRLRVSLSH 

       310        320        330        340        350        360 
GRTVPSQIMG LVVVAHALPP PTINEVRIDC HMFVTRVNMD LNIIYCENRI SDYMDLTPVD 

       370        380        390        400        410        420 
IVGKRCYHFI HAEDVEGIRH SHLDLLNKGQ CVTKYYRWMQ KNGGYIWIQS SATIAINAKN 

       430        440        450        460        470        480 
ANEKNIIWVN YLLSNPEYKD TPMDIAQLPH LPEKTSESSE TSDSESDSKD TSGITEDNEN 

       490        500        510        520        530        540 
SKSDEKGNQS ENSEDPEPDR KKSGNACDND MNCNDDGHSS SNPDSRDSDD SFEHSDFENP 

       550        560        570        580        590        600 
KAGEDGFGAL GAMQIKVERY VESESDLRLQ NCESLTSDSA KDSDSAGEAG AQASSKHQKR 

       610        620        630        640        650        660 
KKRRKRQKGG SASRRRLSSA SSPGGLDAGL VEPPRLLSSP NSASVLKIKT EISEPINFDN 

       670        680        690        700        710        720 
DSSIWNYPPN REISRNESPY SMTKPPSSEH FPSPQGGGGG GGGGGGLHVA IPDSVLTPPG 

       730        740        750        760        770        780 
ADGAAARKTQ FGASATAALA PVASDPLSPP LSASPRDKHP GNGGGGGGGG GGAGGGGPSA 

       790        800        810        820        830        840 
SNSLLYTGDL EALQRLQAGN VVLPLVHRVT GTLAATSTAA QRVYTTGTIR YAPAEVTLAM 

       850        860        870        880        890        900 
QSNLLPNAHA VNFVDVNSPG FGLDPKTPME MLYHHVHRLN MSGPFGGAVS AASLTQMPAG 

       910        920        930 
NVFTTAEGLF STLPFPVYSN GIHAAQTLER KED 

« Hide

Isoform 2 [UniParc].

Checksum: EF48D82F79966428
Show »

FASTA90397,231
Isoform 3 (NPAS3v) [UniParc].

Checksum: DD2D7FAAF759E1A4
Show »

FASTA92099,254
Isoform 4 [UniParc].

Checksum: 70D50DCA3A04B572
Show »

FASTA90197,019
Isoform 5 [UniParc].

Checksum: 2E886042102C452B
Show »

FASTA15316,462
Isoform 6 [UniParc].

Checksum: 7009B65C18A81FC7
Show »

FASTA25728,563

References

« Hide 'large scale' references
[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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53891.1. [Q8IXF0-1]
CCDS53892.1. [Q8IXF0-3]
CCDS55912.1. [Q8IXF0-2]
CCDS9645.1. [Q8IXF0-4]
RefSeqNP_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]
UniGeneHs.657892.
Hs.675437.
Hs.675475.

3D structure databases

ProteinModelPortalQ8IXF0.
SMRQ8IXF0. Positions 53-439.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000319610.

PTM databases

PhosphoSiteQ8IXF0.

Polymorphism databases

DMDM38604888.

Proteomic databases

PaxDbQ8IXF0.
PRIDEQ8IXF0.

Protocols and materials databases

DNASU64067.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341321; ENSP00000344158; ENSG00000151322. [Q8IXF0-6]
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]
GeneID64067.
KEGGhsa:64067.
UCSCuc001wrs.3. human. [Q8IXF0-3]
uc001wrt.3. human. [Q8IXF0-4]
uc001wru.3. human. [Q8IXF0-1]
uc001wrv.3. human. [Q8IXF0-2]

Organism-specific databases

CTD64067.
GeneCardsGC14P033408.
HGNCHGNC:19311. NPAS3.
HPAHPA002892.
MIM609430. gene.
neXtProtNX_Q8IXF0.
PharmGKBPA134968746.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287666.
HOVERGENHBG052656.
InParanoidQ8IXF0.
KOK09098.
PhylomeDBQ8IXF0.
TreeFamTF317772.

Gene expression databases

ArrayExpressQ8IXF0.
BgeeQ8IXF0.
CleanExHS_NPAS3.
GenevestigatorQ8IXF0.

Family and domain databases

InterProIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
[Graphical view]
PfamPF00989. 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. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi64067.
NextBio65842.
PROQ8IXF0.
SOURCESearch...

Entry information

Entry nameNPAS3_HUMAN
AccessionPrimary (citable) accession number: Q8IXF0
Secondary accession number(s): Q86US6 expand/collapse secondary AC list , Q86US7, Q8IXF2, Q9BY81, Q9H323, Q9Y4L8
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 118 of the entry and version 1 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 14

Human chromosome 14: entries, gene names and cross-references to MIM