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Entry version 139 (17 Jun 2020)
Sequence version 1 (01 Mar 2003)
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Protein

Neuronal PAS domain-containing protein 4

Gene

NPAS4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hyppocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons to be modified by neuronal activity in a manner specific to their function within a circuit, thereby facilitating appropriate circuit responses to sensory experience (By similarity). In excitatory neurons, activates transcription of BDNF, which in turn controls the number of GABA-releasing synapses that form on excitatory neurons, thereby promoting an increased number of inhibitory synapses on excitatory neurons (By similarity). In inhibitory neurons, regulates a distinct set of target genes that serve to increase excitatory input onto somatostatin neurons, probably resulting in enhanced feedback inhibition within cortical circuits (By similarity). The excitatory and inhibitory balance in neurons affects a number of processes, such as short-term and long-term memory, acquisition of experience, fear memory, response to stress and social behavior (By similarity). Acts as a regulator of dendritic spine development in olfactory bulb granule cells in a sensory-experience-dependent manner by regulating expression of MDM2 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein, such as ARNT, ARNT2 or BMAL1 (PubMed:14701734). Can activate the CME (CNS midline enhancer) element (PubMed:14701734).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neuronal PAS domain-containing protein 4Curated
Short name:
Neuronal PAS4Curated
Alternative name(s):
Class E basic helix-loop-helix protein 79Curated
Short name:
bHLHe79Curated
HLH-PAS transcription factor NXF1 Publication
PAS domain-containing protein 10Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPAS4Imported
Synonyms:BHLHE79Imported, NXF1 Publication, PASD10Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000174576.8

Human Gene Nomenclature Database

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HGNCi
HGNC:18983 NPAS4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608554 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IUM7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
266743

Open Targets

More...
OpenTargetsi
ENSG00000174576

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671254

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IUM7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPAS4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74714317

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002482221 – 802Neuronal PAS domain-containing protein 4Add BLAST802

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated, leading to degradation by the proteosome.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IUM7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IUM7

PeptideAtlas

More...
PeptideAtlasi
Q8IUM7

PRoteomics IDEntifications database

More...
PRIDEi
Q8IUM7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70585 [Q8IUM7-1]
7213

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000174576 Expressed in adenohypophysis and 76 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IUM7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000174576 Group enriched (brain, pituitary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14701734, PubMed:24465693). Heterodimer; forms a heterodimer with ARNT, ARNT2 or BMAL1 (PubMed:14701734, PubMed:24465693).

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
129335, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IUM7, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000311196

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IUM7 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IUM7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 53bHLHPROSITE-ProRule annotationAdd BLAST53
Domaini70 – 144PAS 1PROSITE-ProRule annotationAdd BLAST75
Domaini203 – 273PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini278 – 317PACAdd BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 13Basic motif; degeneratePROSITE-ProRule annotationAdd BLAST13
Regioni14 – 53Helix-loop-helix motifPROSITE-ProRule annotationAdd BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili5 – 38Sequence analysisAdd BLAST34
Coiled coili624 – 648Sequence analysisAdd BLAST25

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IISB Eukaryota
ENOG4110GBU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000064165

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_013890_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IUM7

Identification of Orthologs from Complete Genome Data

More...
OMAi
QCFHKDG

Database of Orthologous Groups

More...
OrthoDBi
219290at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IUM7

TreeFam database of animal gene trees

More...
TreeFami
TF319684

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00130 PAS, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013655 PAS_fold_3

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08447 PAS_3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00091 PAS, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55785 SSF55785, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IUM7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MYRSTKGASK ARRDQINAEI RNLKELLPLA EADKVRLSYL HIMSLACIYT
60 70 80 90 100
RKGVFFAGGT PLAGPTGLLS AQELEDIVAA LPGFLLVFTA EGKLLYLSES
110 120 130 140 150
VSEHLGHSMV DLVAQGDSIY DIIDPADHLT VRQQLTLPSA LDTDRLFRCR
160 170 180 190 200
FNTSKSLRRQ SAGNKLVLIR GRFHAHPPGA YWAGNPVFTA FCAPLEPRPR
210 220 230 240 250
PGPGPGPGPA SLFLAMFQSR HAKDLALLDI SESVLIYLGF ERSELLCKSW
260 270 280 290 300
YGLLHPEDLA HASAQHYRLL AESGDIQAEM VVRLQAKTGG WAWIYCLLYS
310 320 330 340 350
EGPEGPITAN NYPISDMEAW SLRQQLNSED TQAAYVLGTP TMLPSFPENI
360 370 380 390 400
LSQEECSSTN PLFTAALGAP RSTSFPSAPE LSVVSASEEL PRPSKELDFS
410 420 430 440 450
YLTFPSGPEP SLQAELSKDL VCTPPYTPHQ PGGCAFLFSL HEPFQTHLPT
460 470 480 490 500
PSSTLQEQLT PSTATFSDQL TPSSATFPDP LTSPLQGQLT ETSVRSYEDQ
510 520 530 540 550
LTPCTSTFPD QLLPSTATFP EPLGSPAHEQ LTPPSTAFQA HLDSPSQTFP
560 570 580 590 600
EQLSPNPTKT YFAQEGCSFL YEKLPPSPSS PGNGDCTLLA LAQLRGPLSV
610 620 630 640 650
DVPLVPEGLL TPEASPVKQS FFHYSEKEQN EIDRLIQQIS QLAQGMDRPF
660 670 680 690 700
SAEAGTGGLE PLGGLEPLDS NLSLSGAGPP VLSLDLKPWK CQELDFLADP
710 720 730 740 750
DNMFLEETPV EDIFMDLSTP DPSEEWGSGD PEAEGPGGAP SPCNNLSPED
760 770 780 790 800
HSFLEDLATY ETAFETGVSA FPYDGFTDEL HQLQSQVQDS FHEDGSGGEP

TF
Length:802
Mass (Da):87,117
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0F5CB6486D0813F0
GO
Isoform 2 (identifier: Q8IUM7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-234: V → G
     235-802: Missing.

Show »
Length:234
Mass (Da):25,492
Checksum:i8B9AD615FF7D9E0F
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04271 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti72Q → R in BAC04738 (PubMed:14702039).Curated1
Sequence conflicti99E → K in BAC04738 (PubMed:14702039).Curated1
Sequence conflicti390L → H in BAC04738 (PubMed:14702039).Curated1
Sequence conflicti479D → G in BAC04271 (PubMed:14702039).Curated1
Sequence conflicti663G → E in BAC04271 (PubMed:14702039).Curated1
Sequence conflicti707E → K in BAC04271 (PubMed:14702039).Curated1
Sequence conflicti777T → A in BAC04271 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076845147F → S Polymorphism; decreased transcription factor activity due to impaired interaction with ARNT2. 1 PublicationCorresponds to variant dbSNP:rs79072452Ensembl.1
Natural variantiVAR_076846208G → C Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs905768Ensembl.1
Natural variantiVAR_076847257E → K Polymorphism; decreased transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs375915619Ensembl.1
Natural variantiVAR_076848293W → R Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200310338Ensembl.1
Natural variantiVAR_076849296C → R Polymorphism; does not affect the transcription factor activity. 1 Publication1
Natural variantiVAR_076850317M → L Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs76159120Ensembl.1
Natural variantiVAR_076851344P → A Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs140299985Ensembl.1
Natural variantiVAR_076852359T → I Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs145746289Ensembl.1
Natural variantiVAR_076853472P → S Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs150700317Ensembl.1
Natural variantiVAR_076854500Q → K Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs71457718Ensembl.1
Natural variantiVAR_076855587T → M Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs142965018Ensembl.1
Natural variantiVAR_076856702N → D Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs147463475Ensembl.1
Natural variantiVAR_076857750D → Y Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs139929410Ensembl.1
Natural variantiVAR_076858777T → I Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs111848728Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056596234V → G in isoform 2. 1 Publication1
Alternative sequenceiVSP_056597235 – 802Missing in isoform 2. 1 PublicationAdd BLAST568

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB049469 mRNA Translation: BAC19830.1
AK094025 mRNA Translation: BAC04271.1 Frameshift.
AK096253 mRNA Translation: BAC04738.1
AP001107 Genomic DNA No translation available.
BC105001 mRNA Translation: AAI05002.1
BC105003 mRNA Translation: AAI05004.1
BC143630 mRNA Translation: AAI43631.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8138.1 [Q8IUM7-1]

NCBI Reference Sequences

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RefSeqi
NP_001305733.1, NM_001318804.1
NP_849195.2, NM_178864.3 [Q8IUM7-1]
XP_016873028.1, XM_017017539.1 [Q8IUM7-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000311034; ENSP00000311196; ENSG00000174576 [Q8IUM7-1]
ENST00000525148; ENSP00000433135; ENSG00000174576 [Q8IUM7-3]
ENST00000639555; ENSP00000492526; ENSG00000174576 [Q8IUM7-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
266743

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:266743

UCSC genome browser

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UCSCi
uc001ohx.2 human [Q8IUM7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB049469 mRNA Translation: BAC19830.1
AK094025 mRNA Translation: BAC04271.1 Frameshift.
AK096253 mRNA Translation: BAC04738.1
AP001107 Genomic DNA No translation available.
BC105001 mRNA Translation: AAI05002.1
BC105003 mRNA Translation: AAI05004.1
BC143630 mRNA Translation: AAI43631.1
CCDSiCCDS8138.1 [Q8IUM7-1]
RefSeqiNP_001305733.1, NM_001318804.1
NP_849195.2, NM_178864.3 [Q8IUM7-1]
XP_016873028.1, XM_017017539.1 [Q8IUM7-3]

3D structure databases

SMRiQ8IUM7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi129335, 4 interactors
IntActiQ8IUM7, 1 interactor
STRINGi9606.ENSP00000311196

Polymorphism and mutation databases

BioMutaiNPAS4
DMDMi74714317

Proteomic databases

MassIVEiQ8IUM7
PaxDbiQ8IUM7
PeptideAtlasiQ8IUM7
PRIDEiQ8IUM7
ProteomicsDBi70585 [Q8IUM7-1]
7213

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
30154 187 antibodies

The DNASU plasmid repository

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DNASUi
266743

Genome annotation databases

EnsembliENST00000311034; ENSP00000311196; ENSG00000174576 [Q8IUM7-1]
ENST00000525148; ENSP00000433135; ENSG00000174576 [Q8IUM7-3]
ENST00000639555; ENSP00000492526; ENSG00000174576 [Q8IUM7-3]
GeneIDi266743
KEGGihsa:266743
UCSCiuc001ohx.2 human [Q8IUM7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
266743
DisGeNETi266743
EuPathDBiHostDB:ENSG00000174576.8

GeneCards: human genes, protein and diseases

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GeneCardsi
NPAS4
HGNCiHGNC:18983 NPAS4
HPAiENSG00000174576 Group enriched (brain, pituitary gland)
MIMi608554 gene
neXtProtiNX_Q8IUM7
OpenTargetsiENSG00000174576
PharmGKBiPA142671254

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IISB Eukaryota
ENOG4110GBU LUCA
GeneTreeiENSGT00530000064165
HOGENOMiCLU_013890_0_0_1
InParanoidiQ8IUM7
OMAiQCFHKDG
OrthoDBi219290at2759
PhylomeDBiQ8IUM7
TreeFamiTF319684

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
266743 17 hits in 811 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NPAS4 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
266743
PharosiQ8IUM7 Tbio

Protein Ontology

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PROi
PR:Q8IUM7
RNActiQ8IUM7 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174576 Expressed in adenohypophysis and 76 other tissues
GenevisibleiQ8IUM7 HS

Family and domain databases

CDDicd00130 PAS, 2 hits
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013655 PAS_fold_3
PfamiView protein in Pfam
PF08447 PAS_3, 1 hit
SMARTiView protein in SMART
SM00091 PAS, 2 hits
SUPFAMiSSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPAS4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IUM7
Secondary accession number(s): B7ZL81, Q8N8S5, Q8N9Q9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: March 1, 2003
Last modified: June 17, 2020
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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