Q8IXF0 (NPAS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	NPAS3
Synonyms:	BHLHE12, MOP6, PASD6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	933 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Domain	Repeat
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	locomotory behavior Inferred from electronic annotation. Source: Compara maternal behavior Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB social behavior Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW signal transducer activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 933	933	Neuronal PAS domain-containing protein 3		PRO_0000127408
Regions
	Domain	51 – 104	54	bHLH
	Domain	147 – 217	71	PAS 1
	Domain	319 – 389	71	PAS 2
	Domain	363 – 406	44	PAC
	Compositional bias	231 – 239	9	Poly-Ser
	Compositional bias	696 – 777	82	Gly-rich
Natural variations
	Alternative sequence	1 – 102	102	Missing in isoform 5.		VSP_009084
	Alternative sequence	18 – 47	30	Missing in isoform 2, isoform 3 and isoform 4.		VSP_009085
	Alternative sequence	128	1	K → KGIQMWKSELCMRKTPCE in isoform 3.		VSP_009087
	Alternative sequence	129 – 130	2	Missing in isoform 4 and isoform 5.		VSP_009086
	Alternative sequence	246 – 257	12	ESTSP…LTTDN → VCFPPASDQFLL in isoform 5 and isoform 6.		VSP_009088
	Alternative sequence	258 – 933	676	Missing in isoform 5 and isoform 6.		VSP_009089
Experimental info
	Sequence conflict	65	1	G → E in CAB45154. Ref.4
	Sequence conflict	79 – 81	3	PLP → LS in CAB45154. Ref.4
	Sequence conflict	552	1	A → P in AAO17043. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (long form) [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 3215AC657CEDD9A9	FASTA	933	100,805
	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
	Isoform 2 [UniParc]. Checksum: EF48D82F79966428	FASTA	903	97,231
	10 20 30 40 50 60 MAPTKPSFQQ DPSRRERLQA LRKEKSRDAA RSRRGKENFE FYELAKLLPL PAAITSQLDK 70 80 90 100 110 120 ASIIRLTISY LKMRDFANQG DPPWNLRMEG PPPNTSVKVI GAQRRRSPSA LAIEVFEAHL 130 140 150 160 170 180 GSHILQSLDG FVFALNQEGK FLYISETVSI YLGLSQVELT GSSVFDYVHP GDHVEMAEQL 190 200 210 220 230 240 GMKLPPGRGL LSQGTAEDGA SSASSSSQSE TPEPVESTSP SLLTTDNTLE RSFFIRMKST 250 260 270 280 290 300 LTKRGVHIKS SGYKVIHITG RLRLRVSLSH GRTVPSQIMG LVVVAHALPP PTINEVRIDC 310 320 330 340 350 360 HMFVTRVNMD LNIIYCENRI SDYMDLTPVD IVGKRCYHFI HAEDVEGIRH SHLDLLNKGQ 370 380 390 400 410 420 CVTKYYRWMQ KNGGYIWIQS SATIAINAKN ANEKNIIWVN YLLSNPEYKD TPMDIAQLPH 430 440 450 460 470 480 LPEKTSESSE TSDSESDSKD TSGITEDNEN SKSDEKGNQS ENSEDPEPDR KKSGNACDND 490 500 510 520 530 540 MNCNDDGHSS SNPDSRDSDD SFEHSDFENP KAGEDGFGAL GAMQIKVERY VESESDLRLQ 550 560 570 580 590 600 NCESLTSDSA KDSDSAGEAG AQASSKHQKR KKRRKRQKGG SASRRRLSSA SSPGGLDAGL 610 620 630 640 650 660 VEPPRLLSSP NSASVLKIKT EISEPINFDN DSSIWNYPPN REISRNESPY SMTKPPSSEH 670 680 690 700 710 720 FPSPQGGGGG GGGGGGLHVA IPDSVLTPPG ADGAAARKTQ FGASATAALA PVASDPLSPP 730 740 750 760 770 780 LSASPRDKHP GNGGGGGGGG GGAGGGGPSA SNSLLYTGDL EALQRLQAGN VVLPLVHRVT 790 800 810 820 830 840 GTLAATSTAA QRVYTTGTIR YAPAEVTLAM QSNLLPNAHA VNFVDVNSPG FGLDPKTPME 850 860 870 880 890 900 MLYHHVHRLN MSGPFGGAVS AASLTQMPAG NVFTTAEGLF STLPFPVYSN GIHAAQTLER KED
	Isoform 3 (NPAS3v) [UniParc]. Checksum: DD2D7FAAF759E1A4	FASTA	920	99,254
	10 20 30 40 50 60 MAPTKPSFQQ DPSRRERLQA LRKEKSRDAA RSRRGKENFE FYELAKLLPL PAAITSQLDK 70 80 90 100 110 120 ASIIRLTISY LKMRDFANQG DPPWNLRMEG PPPNTSVKGI QMWKSELCMR KTPCEVIGAQ 130 140 150 160 170 180 RRRSPSALAI EVFEAHLGSH ILQSLDGFVF ALNQEGKFLY ISETVSIYLG LSQVELTGSS 190 200 210 220 230 240 VFDYVHPGDH VEMAEQLGMK LPPGRGLLSQ GTAEDGASSA SSSSQSETPE PVESTSPSLL 250 260 270 280 290 300 TTDNTLERSF FIRMKSTLTK RGVHIKSSGY KVIHITGRLR LRVSLSHGRT VPSQIMGLVV 310 320 330 340 350 360 VAHALPPPTI NEVRIDCHMF VTRVNMDLNI IYCENRISDY MDLTPVDIVG KRCYHFIHAE 370 380 390 400 410 420 DVEGIRHSHL DLLNKGQCVT KYYRWMQKNG GYIWIQSSAT IAINAKNANE KNIIWVNYLL 430 440 450 460 470 480 SNPEYKDTPM DIAQLPHLPE KTSESSETSD SESDSKDTSG ITEDNENSKS DEKGNQSENS 490 500 510 520 530 540 EDPEPDRKKS GNACDNDMNC NDDGHSSSNP DSRDSDDSFE HSDFENPKAG EDGFGALGAM 550 560 570 580 590 600 QIKVERYVES ESDLRLQNCE SLTSDSAKDS DSAGEAGAQA SSKHQKRKKR RKRQKGGSAS 610 620 630 640 650 660 RRRLSSASSP GGLDAGLVEP PRLLSSPNSA SVLKIKTEIS EPINFDNDSS IWNYPPNREI 670 680 690 700 710 720 SRNESPYSMT KPPSSEHFPS PQGGGGGGGG GGGLHVAIPD SVLTPPGADG AAARKTQFGA 730 740 750 760 770 780 SATAALAPVA SDPLSPPLSA SPRDKHPGNG GGGGGGGGGA GGGGPSASNS LLYTGDLEAL 790 800 810 820 830 840 QRLQAGNVVL PLVHRVTGTL AATSTAAQRV YTTGTIRYAP AEVTLAMQSN LLPNAHAVNF 850 860 870 880 890 900 VDVNSPGFGL DPKTPMEMLY HHVHRLNMSG PFGGAVSAAS LTQMPAGNVF TTAEGLFSTL 910 920 PFPVYSNGIH AAQTLERKED
	Isoform 4 [UniParc]. Checksum: 70D50DCA3A04B572	FASTA	901	97,019
	10 20 30 40 50 60 MAPTKPSFQQ DPSRRERLQA LRKEKSRDAA RSRRGKENFE FYELAKLLPL PAAITSQLDK 70 80 90 100 110 120 ASIIRLTISY LKMRDFANQG DPPWNLRMEG PPPNTSVKGA QRRRSPSALA IEVFEAHLGS 130 140 150 160 170 180 HILQSLDGFV FALNQEGKFL YISETVSIYL GLSQVELTGS SVFDYVHPGD HVEMAEQLGM 190 200 210 220 230 240 KLPPGRGLLS QGTAEDGASS ASSSSQSETP EPVESTSPSL LTTDNTLERS FFIRMKSTLT 250 260 270 280 290 300 KRGVHIKSSG YKVIHITGRL RLRVSLSHGR TVPSQIMGLV VVAHALPPPT INEVRIDCHM 310 320 330 340 350 360 FVTRVNMDLN IIYCENRISD YMDLTPVDIV GKRCYHFIHA EDVEGIRHSH LDLLNKGQCV 370 380 390 400 410 420 TKYYRWMQKN GGYIWIQSSA TIAINAKNAN EKNIIWVNYL LSNPEYKDTP MDIAQLPHLP 430 440 450 460 470 480 EKTSESSETS DSESDSKDTS GITEDNENSK SDEKGNQSEN SEDPEPDRKK SGNACDNDMN 490 500 510 520 530 540 CNDDGHSSSN PDSRDSDDSF EHSDFENPKA GEDGFGALGA MQIKVERYVE SESDLRLQNC 550 560 570 580 590 600 ESLTSDSAKD SDSAGEAGAQ ASSKHQKRKK RRKRQKGGSA SRRRLSSASS PGGLDAGLVE 610 620 630 640 650 660 PPRLLSSPNS ASVLKIKTEI SEPINFDNDS SIWNYPPNRE ISRNESPYSM TKPPSSEHFP 670 680 690 700 710 720 SPQGGGGGGG GGGGLHVAIP DSVLTPPGAD GAAARKTQFG ASATAALAPV ASDPLSPPLS 730 740 750 760 770 780 ASPRDKHPGN GGGGGGGGGG AGGGGPSASN SLLYTGDLEA LQRLQAGNVV LPLVHRVTGT 790 800 810 820 830 840 LAATSTAAQR VYTTGTIRYA PAEVTLAMQS NLLPNAHAVN FVDVNSPGFG LDPKTPMEML 850 860 870 880 890 900 YHHVHRLNMS GPFGGAVSAA SLTQMPAGNV FTTAEGLFST LPFPVYSNGI HAAQTLERKE D
	Isoform 5 [UniParc]. Checksum: 2E886042102C452B	FASTA	153	16,462
	10 20 30 40 50 60 MRDFANQGDP PWNLRMEGPP PNTSVKGAQR RRSPSALAIE VFEAHLGSHI LQSLDGFVFA 70 80 90 100 110 120 LNQEGKFLYI SETVSIYLGL SQVELTGSSV FDYVHPGDHV EMAEQLGMKL PPGRGLLSQG 130 140 150 TAEDGASSAS SSSQSETPEP VVCFPPASDQ FLL
	Isoform 6 [UniParc]. Checksum: 7009B65C18A81FC7	FASTA	257	28,563
	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 TPEPVVCFPP ASDQFLL

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00217513. IPI00394963. IPI00394964. IPI00394965. IPI00394966. IPI00394967.
RefSeq	NP_001158221.1. NM_001164749.1. NP_001159365.1. NM_001165893.1. NP_071406.1. NM_022123.2. NP_775182.1. NM_173159.2.
UniGene	Hs.657892. Hs.675437. Hs.675475.
3D structure databases
ProteinModelPortal	Q8IXF0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000319610.
PTM databases
PhosphoSite	Q8IXF0.
Polymorphism databases
DMDM	38604888.
Proteomic databases
PaxDb	Q8IXF0.
PRIDE	Q8IXF0.
Protocols and materials databases
DNASU	64067.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341321; ENSP00000344158; ENSG00000151322. ENST00000346562; ENSP00000319610; ENSG00000151322. ENST00000356141; ENSP00000348460; ENSG00000151322. ENST00000357798; ENSP00000350446; ENSG00000151322. ENST00000547068; ENSP00000449542; ENSG00000151322. ENST00000548645; ENSP00000448916; ENSG00000151322.
GeneID	64067.
KEGG	hsa:64067.
UCSC	uc001wrs.3. human. uc001wrt.3. human. uc001wru.3. human. uc001wrv.3. human.
Organism-specific databases
CTD	64067.
GeneCards	GC14P033408.
HGNC	HGNC:19311. NPAS3.
HPA	HPA002892.
MIM	609430. gene.
neXtProt	NX_Q8IXF0.
PharmGKB	PA134968746.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287666.
HOVERGEN	HBG052656.
InParanoid	Q8IXF0.
KO	K09098.
PhylomeDB	Q8IXF0.
Gene expression databases
ArrayExpress	Q8IXF0.
Bgee	Q8IXF0.
CleanEx	HS_NPAS3.
Genevestigator	Q8IXF0.
GermOnline	ENSG00000151322. Homo sapiens.
Family and domain databases
InterPro	IPR011598. bHLH_dom. IPR001610. PAC. IPR000014. PAS. IPR013767. PAS_fold. IPR013655. PAS_fold_3. [Graphical view]
Pfam	PF00989. PAS. 1 hit. PF08447. PAS_3. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 2 hits. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit. SSF55785. SSF55785. 2 hits.
PROSITE	PS50888. BHLH. 1 hit. PS50113. PAC. False negative. PS50112. PAS. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64067.
NextBio	65842.
SOURCE	Search...

Entry information

Entry name

NPAS3_HUMAN

Accession

Primary (citable) accession number: Q8IXF0
Secondary accession number(s): Q86US6 , Q86US7, Q8IXF2, Q9BY81, Q9H323, Q9Y4L8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 28, 2003
Last sequence update:	March 1, 2003
Last modified:	May 29, 2013
This is version 109 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.