Q99742 (NPAS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	NPAS1
Synonyms:	BHLHE11, MOP5, PASD5

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	590 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Repeat
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system development Traceable author statement Ref.1. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc signal transducer activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 590	590	Neuronal PAS domain-containing protein 1		PRO_0000127404
Regions
	Domain	45 – 98	54	bHLH
	Domain	135 – 207	73	PAS 1
	Domain	293 – 359	67	PAS 2
	Domain	365 – 408	44	PAC
	Compositional bias	211 – 222	12	Poly-Ser
Experimental info
	Sequence conflict	80	1	S → I in AAB47248. Ref.1
	Sequence conflict	110 – 134	25	LRAAG…VSEVF → NSRRPALRAAAAGARPAGGP GSQPP Ref.4
	Sequence conflict	203	1	P → T in AAB47248. Ref.1
	Sequence conflict	211	1	P → S in AAB47248. Ref.1
	Sequence conflict	449	1	A → V in AAB47248. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q99742 [UniParc]. Last modified February 15, 2005. Version 2. Checksum: CE893A0C7CEEDB09	FASTA	590	62,702
	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

References

	« Hide 'large scale' referencesShow '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]. Tissue: Brain.
[2]	"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]. Tissue: Fetal brain.
[3]	"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]. Tissue: Brain.
[4]	"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. Tissue: Hepatoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U77968 mRNA. Translation: AAB47248.1. AB054002 mRNA. Translation: BAB21098.1. BC039016 mRNA. Translation: AAH39016.1. U51628 mRNA. Translation: AAC51214.1.
IPI	IPI00293815.
RefSeq	NP_002508.2. NM_002517.2.
UniGene	Hs.79564.
3D structure databases
ProteinModelPortal	Q99742.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000253050.
Polymorphism databases
DMDM	59803108.
Proteomic databases
PaxDb	Q99742.
PRIDE	Q99742.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000449844; ENSP00000405290; ENSG00000130751. ENST00000602212; ENSP00000469142; ENSG00000130751.
GeneID	4861.
KEGG	hsa:4861.
UCSC	uc002pfw.3. human.
Organism-specific databases
CTD	4861.
GeneCards	GC19P047523.
HGNC	HGNC:7894. NPAS1.
MIM	603346. gene.
neXtProt	NX_Q99742.
PharmGKB	PA31695.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287666.
HOGENOM	HOG000236298.
HOVERGEN	HBG052655.
InParanoid	Q99742.
KO	K09098.
OMA	VYPHLQR.
OrthoDB	EOG4M0F1J.
PhylomeDB	Q99742.
Gene expression databases
ArrayExpress	Q99742.
Bgee	Q99742.
CleanEx	HS_NPAS1.
Genevestigator	Q99742.
GermOnline	ENSG00000130751. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR001610. PAC. IPR000014. PAS. IPR013767. PAS_fold. IPR013655. PAS_fold_3. [Graphical view]
Pfam	PF00010. HLH. 1 hit. 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.
PROSITE	PS50888. BHLH. 1 hit. PS50113. PAC. False negative. PS50112. PAS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4861.
NextBio	18726.
SOURCE	Search...

Entry information

Entry name

NPAS1_HUMAN

Accession

Primary (citable) accession number: Q99742
Secondary accession number(s): Q99632, Q9BY83

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	February 15, 2005
Last modified:	May 1, 2013
This is version 116 of the entry and version 2 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.