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Protein

Neuronal PAS domain-containing protein 1

Gene

NPAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

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

HGNCiHGNC:7894. NPAS1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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.

PTM databases

iPTMnetiQ99742.
PhosphoSitePlusiQ99742.

Expressioni

Gene expression databases

BgeeiENSG00000130751.
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 (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.
HOGENOMiHOG000236298.
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.
IPR000014. PAS.
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

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

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

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: August 30, 2017
This is version 152 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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot