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Q8IXF0

- NPAS3_HUMAN

UniProt

Q8IXF0 - NPAS3_HUMAN

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Protein

Neuronal PAS domain-containing protein 3

Gene

NPAS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. signal transducer activity Source: InterPro

GO - Biological processi

  1. locomotory behavior Source: Ensembl
  2. maternal behavior Source: Ensembl
  3. positive regulation of transcription, DNA-templated Source: UniProtKB
  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 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 namesi
Name:NPAS3
Synonyms:BHLHE12, MOP6, PASD6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19311. NPAS3.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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

Organism-specific databases

PharmGKBiPA134968746.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 933933Neuronal PAS domain-containing protein 3PRO_0000127408Add
BLAST

Proteomic databases

PaxDbiQ8IXF0.
PRIDEiQ8IXF0.

PTM databases

PhosphoSiteiQ8IXF0.

Expressioni

Tissue specificityi

Ubiquitously expressed in the adult brain.

Gene expression databases

BgeeiQ8IXF0.
CleanExiHS_NPAS3.
ExpressionAtlasiQ8IXF0. baseline and differential.
GenevestigatoriQ8IXF0.

Organism-specific databases

HPAiHPA002892.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

Protein-protein interaction databases

BioGridi122040. 1 interaction.
STRINGi9606.ENSP00000319610.

Structurei

3D structure databases

ProteinModelPortaliQ8IXF0.
SMRiQ8IXF0. Positions 53-439.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 10454bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini147 – 21771PAS 1PROSITE-ProRule annotationAdd
BLAST
Domaini319 – 38971PAS 2PROSITE-ProRule annotationAdd
BLAST
Domaini363 – 40644PACAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi231 – 2399Poly-Ser
Compositional biasi696 – 77782Gly-richAdd
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.
HOVERGENiHBG052656.
InParanoidiQ8IXF0.
KOiK09098.
PhylomeDBiQ8IXF0.
TreeFamiTF317772.

Family and domain databases

InterProiIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
[Graphical view]
PfamiPF00989. 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. 2 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IXF0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAPTKPSFQQ DPSRRERITA QHPLPNQSEC RKIYRYDGIY CESTYQNLQA
60 70 80 90 100
LRKEKSRDAA RSRRGKENFE FYELAKLLPL PAAITSQLDK ASIIRLTISY
110 120 130 140 150
LKMRDFANQG DPPWNLRMEG PPPNTSVKVI GAQRRRSPSA LAIEVFEAHL
160 170 180 190 200
GSHILQSLDG FVFALNQEGK FLYISETVSI YLGLSQVELT GSSVFDYVHP
210 220 230 240 250
GDHVEMAEQL GMKLPPGRGL LSQGTAEDGA SSASSSSQSE TPEPVESTSP
260 270 280 290 300
SLLTTDNTLE RSFFIRMKST LTKRGVHIKS SGYKVIHITG RLRLRVSLSH
310 320 330 340 350
GRTVPSQIMG LVVVAHALPP PTINEVRIDC HMFVTRVNMD LNIIYCENRI
360 370 380 390 400
SDYMDLTPVD IVGKRCYHFI HAEDVEGIRH SHLDLLNKGQ CVTKYYRWMQ
410 420 430 440 450
KNGGYIWIQS SATIAINAKN ANEKNIIWVN YLLSNPEYKD TPMDIAQLPH
460 470 480 490 500
LPEKTSESSE TSDSESDSKD TSGITEDNEN SKSDEKGNQS ENSEDPEPDR
510 520 530 540 550
KKSGNACDND MNCNDDGHSS SNPDSRDSDD SFEHSDFENP KAGEDGFGAL
560 570 580 590 600
GAMQIKVERY VESESDLRLQ NCESLTSDSA KDSDSAGEAG AQASSKHQKR
610 620 630 640 650
KKRRKRQKGG SASRRRLSSA SSPGGLDAGL VEPPRLLSSP NSASVLKIKT
660 670 680 690 700
EISEPINFDN DSSIWNYPPN REISRNESPY SMTKPPSSEH FPSPQGGGGG
710 720 730 740 750
GGGGGGLHVA IPDSVLTPPG ADGAAARKTQ FGASATAALA PVASDPLSPP
760 770 780 790 800
LSASPRDKHP GNGGGGGGGG GGAGGGGPSA SNSLLYTGDL EALQRLQAGN
810 820 830 840 850
VVLPLVHRVT GTLAATSTAA QRVYTTGTIR YAPAEVTLAM QSNLLPNAHA
860 870 880 890 900
VNFVDVNSPG FGLDPKTPME MLYHHVHRLN MSGPFGGAVS AASLTQMPAG
910 920 930
NVFTTAEGLF STLPFPVYSN GIHAAQTLER KED
Length:933
Mass (Da):100,805
Last modified:March 1, 2003 - v1
Checksum:i3215AC657CEDD9A9
GO
Isoform 2 (identifier: Q8IXF0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.

Show »
Length:903
Mass (Da):97,231
Checksum:iEF48D82F79966428
GO
Isoform 3 (identifier: Q8IXF0-3) [UniParc]FASTAAdd to Basket

Also known as: NPAS3v

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.
     128-128: K → KGIQMWKSELCMRKTPCE

Show »
Length:920
Mass (Da):99,254
Checksum:iDD2D7FAAF759E1A4
GO
Isoform 4 (identifier: Q8IXF0-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-47: Missing.
     129-130: Missing.

Show »
Length:901
Mass (Da):97,019
Checksum:i70D50DCA3A04B572
GO
Isoform 5 (identifier: Q8IXF0-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:153
Mass (Da):16,462
Checksum:i2E886042102C452B
GO
Isoform 6 (identifier: Q8IXF0-6) [UniParc]FASTAAdd to Basket

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

Show »
Length:257
Mass (Da):28,563
Checksum:i7009B65C18A81FC7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti65 – 651G → E in CAB45154. 1 PublicationCurated
Sequence conflicti79 – 813PLP → LS in CAB45154. 1 PublicationCurated
Sequence conflicti552 – 5521A → P in AAO17043. (PubMed:12746393)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 102102Missing in isoform 5. 1 PublicationVSP_009084Add
BLAST
Alternative sequencei18 – 4730Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_009085Add
BLAST
Alternative sequencei128 – 1281K → KGIQMWKSELCMRKTPCE in isoform 3. 1 PublicationVSP_009087
Alternative sequencei129 – 1302Missing in isoform 4 and isoform 5. 2 PublicationsVSP_009086
Alternative sequencei246 – 25712ESTSP…LTTDN → VCFPPASDQFLL in isoform 5 and isoform 6. 2 PublicationsVSP_009088Add
BLAST
Alternative sequencei258 – 933676Missing in isoform 5 and isoform 6. 2 PublicationsVSP_009089Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS53891.1. [Q8IXF0-1]
CCDS53892.1. [Q8IXF0-3]
CCDS55912.1. [Q8IXF0-2]
CCDS9645.1. [Q8IXF0-4]
RefSeqiNP_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]
UniGeneiHs.657892.
Hs.675437.
Hs.675475.

Genome annotation databases

EnsembliENST00000346562; ENSP00000319610; ENSG00000151322. [Q8IXF0-4]
ENST00000356141; ENSP00000348460; ENSG00000151322. [Q8IXF0-1]
ENST00000357798; ENSP00000350446; ENSG00000151322. [Q8IXF0-3]
ENST00000547068; ENSP00000449542; ENSG00000151322. [Q8IXF0-5]
ENST00000548645; ENSP00000448916; ENSG00000151322. [Q8IXF0-2]
GeneIDi64067.
KEGGihsa:64067.
UCSCiuc001wrs.3. human. [Q8IXF0-3]
uc001wrt.3. human. [Q8IXF0-4]
uc001wru.3. human. [Q8IXF0-1]
uc001wrv.3. human. [Q8IXF0-2]

Polymorphism databases

DMDMi38604888.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS53891.1. [Q8IXF0-1 ]
CCDS53892.1. [Q8IXF0-3 ]
CCDS55912.1. [Q8IXF0-2 ]
CCDS9645.1. [Q8IXF0-4 ]
RefSeqi NP_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 ]
UniGenei Hs.657892.
Hs.675437.
Hs.675475.

3D structure databases

ProteinModelPortali Q8IXF0.
SMRi Q8IXF0. Positions 53-439.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122040. 1 interaction.
STRINGi 9606.ENSP00000319610.

PTM databases

PhosphoSitei Q8IXF0.

Polymorphism databases

DMDMi 38604888.

Proteomic databases

PaxDbi Q8IXF0.
PRIDEi Q8IXF0.

Protocols and materials databases

DNASUi 64067.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli 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 ]
GeneIDi 64067.
KEGGi hsa:64067.
UCSCi uc001wrs.3. human. [Q8IXF0-3 ]
uc001wrt.3. human. [Q8IXF0-4 ]
uc001wru.3. human. [Q8IXF0-1 ]
uc001wrv.3. human. [Q8IXF0-2 ]

Organism-specific databases

CTDi 64067.
GeneCardsi GC14P033408.
HGNCi HGNC:19311. NPAS3.
HPAi HPA002892.
MIMi 609430. gene.
neXtProti NX_Q8IXF0.
PharmGKBi PA134968746.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287666.
GeneTreei ENSGT00760000118788.
HOVERGENi HBG052656.
InParanoidi Q8IXF0.
KOi K09098.
PhylomeDBi Q8IXF0.
TreeFami TF317772.

Miscellaneous databases

GenomeRNAii 64067.
NextBioi 65842.
PROi Q8IXF0.
SOURCEi Search...

Gene expression databases

Bgeei Q8IXF0.
CleanExi HS_NPAS3.
ExpressionAtlasi Q8IXF0. baseline and differential.
Genevestigatori Q8IXF0.

Family and domain databases

InterProi IPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
[Graphical view ]
Pfami 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. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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).

Entry informationi

Entry nameiNPAS3_HUMAN
AccessioniPrimary (citable) accession number: Q8IXF0
Secondary accession number(s): Q86US6
, Q86US7, Q8IXF2, Q9BY81, Q9H323, Q9Y4L8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: March 1, 2003
Last modified: October 29, 2014
This is version 120 of the entry and version 1 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 14
    Human chromosome 14: 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