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Protein

Neuronal PAS domain-containing protein 1

Gene

NPAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ99742

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000130751.9
HGNCiHGNC:7894 NPAS1
MIMi603346 gene
neXtProtiNX_Q99742

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi4861
OpenTargetsiENSG00000130751
PharmGKBiPA31695

Polymorphism and mutation databases

BioMutaiNPAS1
DMDMi59803108

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274041 – 590Neuronal PAS domain-containing protein 1Add BLAST590

Proteomic databases

PaxDbiQ99742
PeptideAtlasiQ99742
PRIDEiQ99742
ProteomicsDBi78453

PTM databases

iPTMnetiQ99742
PhosphoSitePlusiQ99742

Expressioni

Gene expression databases

BgeeiENSG00000130751 Expressed in 128 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_NPAS1
ExpressionAtlasiQ99742 baseline and differential
GenevisibleiQ99742 HS

Organism-specific databases

HPAiHPA043364
HPA072259

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ARNT; forms a heterodimer that binds core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) leading to a transcriptional repressor on its target gene TH (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110922, 18 interactors
STRINGi9606.ENSP00000405290

Structurei

3D structure databases

ProteinModelPortaliQ99742
SMRiQ99742
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 98bHLHPROSITE-ProRule annotationAdd BLAST54
Domaini135 – 207PAS 1PROSITE-ProRule annotationAdd BLAST73
Domaini293 – 359PAS 2PROSITE-ProRule annotationAdd BLAST67
Domaini365 – 408PACAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi211 – 222Poly-SerAdd BLAST12

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3558 Eukaryota
ENOG410YK57 LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000207686
HOVERGENiHBG052655
InParanoidiQ99742
KOiK09098
OMAiVPWDFLP
OrthoDBiEOG091G02J4
PhylomeDBiQ99742
TreeFamiTF317772

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R2M8M0R2M8_HUMAN
Neuronal PAS domain-containing prot...
NPAS1
415Annotation score:
M0R1R8M0R1R8_HUMAN
Neuronal PAS domain-containing prot...
NPAS1
214Annotation score:
M0QX32M0QX32_HUMAN
Neuronal PAS domain-containing prot...
NPAS1
95Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti80S → I in AAB47248 (PubMed:9012850).Curated1
Sequence conflicti110 – 134LRAAG…VSEVF → NSRRPALRAAAAGARPAGGP GSQPP (PubMed:9079689).CuratedAdd BLAST25
Sequence conflicti203P → T in AAB47248 (PubMed:9012850).Curated1
Sequence conflicti211P → S in AAB47248 (PubMed:9012850).Curated1
Sequence conflicti449A → V in AAB47248 (PubMed:9012850).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542801 – 176Missing in isoform 2. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_054281357 – 410LLDKG…SQAEG → SCRGLRVAAVCGHSGWEREE PRGAPCALGQPRAQPSRGWP NSFGCLPASSQRGL in isoform 2. 1 PublicationAdd BLAST54
Alternative sequenceiVSP_054282411 – 590Missing in isoform 2. 1 PublicationAdd BLAST180

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]
CCDS82371.1 [Q99742-2]
RefSeqiNP_001308015.1, NM_001321086.1 [Q99742-2]
NP_002508.2, NM_002517.3 [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.4 human [Q99742-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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]
CCDS82371.1 [Q99742-2]
RefSeqiNP_001308015.1, NM_001321086.1 [Q99742-2]
NP_002508.2, NM_002517.3 [Q99742-1]
UniGeneiHs.79564

3D structure databases

ProteinModelPortaliQ99742
SMRiQ99742
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110922, 18 interactors
STRINGi9606.ENSP00000405290

PTM databases

iPTMnetiQ99742
PhosphoSitePlusiQ99742

Polymorphism and mutation databases

BioMutaiNPAS1
DMDMi59803108

Proteomic databases

PaxDbiQ99742
PeptideAtlasiQ99742
PRIDEiQ99742
ProteomicsDBi78453

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.4 human [Q99742-1]

Organism-specific databases

CTDi4861
DisGeNETi4861
EuPathDBiHostDB:ENSG00000130751.9
GeneCardsiNPAS1
HGNCiHGNC:7894 NPAS1
HPAiHPA043364
HPA072259
MIMi603346 gene
neXtProtiNX_Q99742
OpenTargetsiENSG00000130751
PharmGKBiPA31695
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3558 Eukaryota
ENOG410YK57 LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000207686
HOVERGENiHBG052655
InParanoidiQ99742
KOiK09098
OMAiVPWDFLP
OrthoDBiEOG091G02J4
PhylomeDBiQ99742
TreeFamiTF317772

Enzyme and pathway databases

SIGNORiQ99742

Miscellaneous databases

GenomeRNAii4861
PROiPR:Q99742
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130751 Expressed in 128 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_NPAS1
ExpressionAtlasiQ99742 baseline and differential
GenevisibleiQ99742 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNPAS1_HUMAN
AccessioniPrimary (citable) accession number: Q99742
Secondary accession number(s): B4DR69, Q99632, Q9BY83
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: February 15, 2005
Last modified: November 7, 2018
This is version 162 of the entry and version 2 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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