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UniProtKB - P48380 (RFX3_HUMAN)

Entry version 175 (02 Dec 2020)
Sequence version 2 (20 Jun 2003)
Previous versions | rss
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Protein

Transcription factor RFX3

Gene

RFX3

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 required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi183 – 258RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P48380

<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:
Transcription factor RFX3
Alternative name(s):
Regulatory factor X 3
<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:RFX3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 9

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000080298.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:9984, RFX3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601337, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48380

<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		5991

Open Targets

More...OpenTargetsi		ENSG00000080298

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34354

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P48380, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RFX3

Domain mapping of disease mutations (DMDM)

More...DMDMi		32172437

<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_00002152901 – 749Transcription factor RFX3Add BLAST749

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P48380

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P48380

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P48380

MaxQB - The MaxQuant DataBase

More...MaxQBi		P48380

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

More...PaxDbi		P48380

PeptideAtlas

More...PeptideAtlasi		P48380

PRoteomics IDEntifications database

More...PRIDEi		P48380

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55883 [P48380-1]
55884 [P48380-2]
55885 [P48380-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P48380

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P48380

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P48380

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000080298, Expressed in oviduct epithelium and 207 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P48380, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48380, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000080298, Tissue enhanced (brain, testis)

<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

Heterodimer; heterodimerizes with RFX1 and RFX2, and RFX6.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111923, 38 interactors

Protein interaction database and analysis system

More...IntActi		P48380, 16 interactors

Molecular INTeraction database

More...MINTi		P48380

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000371434

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P48380, 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		P48380

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3712, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00980000198514

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010393_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48380

Identification of Orthologs from Complete Genome Data

More...OMAi		FYRNSSM

Database of Orthologous Groups

More...OrthoDBi		346630at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48380

TreeFam database of animal gene trees

More...TreeFami		TF321340

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003150, DNA-bd_RFX
IPR039779, RFX-like
IPR007668, RFX1_trans_act
IPR036388, WH-like_DNA-bd_sf
IPR036390, WH_DNA-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR12619, PTHR12619, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04589, RFX1_trans_act, 1 hit
PF02257, RFX_DNA_binding, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46785, SSF46785, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51526, RFX_DBD, 1 hit

<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 (3+)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 3 <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

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48380-1) [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
MQTSETGSDT GSTVTLQTSV ASQAAVPTQV VQQVPVQQQV QQVQTVQQVQ 
        60         70         80         90        100
HVYPAQVQYV EGSDTVYTNG AIRTTTYPYT ETQMYSQNTG GNYFDTQGSS 
       110        120        130        140        150
AQVTTVVSSH SMVGTGGIQM GVTGGQLISS SGGTYLIGNS MENSGHSVTH 
       160        170        180        190        200
TTRASPATIE MAIETLQKSD GLSTHRSSLL NSHLQWLLDN YETAEGVSLP 
       210        220        230        240        250
RSTLYNHYLR HCQEHKLDPV NAASFGKLIR SIFMGLRTRR LGTRGNSKYH 
       260        270        280        290        300
YYGIRVKPDS PLNRLQEDMQ YMAMRQQPMQ QKQRYKPMQK VDGVADGFTG 
       310        320        330        340        350
SGQQTGTSVE QTVIAQSQHH QQFLDASRAL PEFGEVEISS LPDGTTFEDI 
       360        370        380        390        400
KSLQSLYREH CEAILDVVVN LQFSLIEKLW QTFWRYSPST PTDGTTITES 
       410        420        430        440        450
SNLSEIESRL PKAKLITLCK HESILKWMCN CDHGMYQALV EILIPDVLRP 
       460        470        480        490        500
IPSALTQAIR NFAKSLEGWL SNAMNNIPQR MIQTKVAAVS AFAQTLRRYT 
       510        520        530        540        550
SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW VCQCDDNMVQ 
       560        570        580        590        600
RLETDFKMTL QQQSTLEQWA AWLDNVMMQA LKPYEGRPSF PKAARQFLLK 
       610        620        630        640        650
WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP 
       660        670        680        690        700
IAVMGEFGDL NAVSPGNLDK DEGSEVESEM DEELDDSSEP QAKREKTELS 
       710        720        730        740 
QAFPVGCMQP VLETGVQPSL LNPIHSEHIV TSTQTIRQCS ATGNTYTAV
Length:749
Mass (Da):83,530
Last modified:June 20, 2003 - v2
<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:i531F5CFCA7A707C7
GO
Isoform 2 (identifier: P48380-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     657-707: FGDLNAVSPG...ELSQAFPVGC → VREAERAVTH...RDCGVIARVP
     708-749: Missing.

Show »
Length:707
Mass (Da):79,357
Checksum:iA1959E3F23E0D8F0
GO
Isoform 3 (identifier: P48380-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     401-413: SNLSEIESRLPKA → RSESTSFPIHFHG
     414-749: Missing.

Show »
Length:413
Mass (Da):45,715
Checksum:i8C355CDF0E4837D7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6UGA0F6UGA0_HUMAN
Transcription factor RFX3
RFX3
216Annotation score:

Annotation score:1 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>
H0Y790H0Y790_HUMAN
Transcription factor RFX3
RFX3
135Annotation score:

Annotation score:1 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>
A9Z1Z2A9Z1Z2_HUMAN
Transcription factor RFX3
RFX3
85Annotation score:

Annotation score:1 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>
F6UV76F6UV76_HUMAN
Transcription factor RFX3
RFX3
184Annotation score:

Annotation score:1 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>
H0Y7Z4H0Y7Z4_HUMAN
Transcription factor RFX3
RFX3
156Annotation score:

Annotation score:1 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>
F6XM74F6XM74_HUMAN
Transcription factor RFX3
RFX3
138Annotation score:

Annotation score:1 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>
F6USP3F6USP3_HUMAN
Transcription factor RFX3
RFX3
174Annotation score:

Annotation score:1 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>
H0Y7W5H0Y7W5_HUMAN
Transcription factor RFX3
RFX3
124Annotation score:

Annotation score:1 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 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 conflicti150H → P in BAF82229 (PubMed:14702039).Curated1
Sequence conflicti310E → G in AAH67778 (PubMed:15489334).Curated1

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_015162401 – 413SNLSE…RLPKA → RSESTSFPIHFHG in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_015163414 – 749Missing in isoform 3. 1 PublicationAdd BLAST336
Alternative sequenceiVSP_007626657 – 707FGDLN…FPVGC → VREAERAVTHWVIKNKPELH FSLNTLLIKTMVPNQVSLRA RRDCGVIARVP in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_007627708 – 749Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X76092 mRNA Translation: CAA53706.1
AK289540 mRNA Translation: BAF82229.1
AL365202 Genomic DNA No translation available.
AL133549 Genomic DNA No translation available.
AL354941 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58795.1
CH471071 Genomic DNA Translation: EAW58796.1
CH471071 Genomic DNA Translation: EAW58798.1
CH471071 Genomic DNA Translation: EAW58799.1
BC022191 mRNA Translation: AAH22191.1
BC067778 mRNA Translation: AAH67778.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6449.1 [P48380-1]
CCDS6450.1 [P48380-2]
CCDS75809.1 [P48380-3]

Protein sequence database of the Protein Information Resource

More...PIRi		D55926

NCBI Reference Sequences

More...RefSeqi		NP_001269045.1, NM_001282116.1 [P48380-1]
NP_001269046.1, NM_001282117.1 [P48380-3]
NP_002910.1, NM_002919.3 [P48380-2]
NP_602304.1, NM_134428.2 [P48380-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3]
ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2]
ENST00000382004; ENSP00000371434; ENSG00000080298 [P48380-1]
ENST00000617270; ENSP00000482598; ENSG00000080298 [P48380-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5991

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5991

UCSC genome browser

More...UCSCi		uc003zhr.5, human [P48380-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X76092 mRNA Translation: CAA53706.1
AK289540 mRNA Translation: BAF82229.1
AL365202 Genomic DNA No translation available.
AL133549 Genomic DNA No translation available.
AL354941 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58795.1
CH471071 Genomic DNA Translation: EAW58796.1
CH471071 Genomic DNA Translation: EAW58798.1
CH471071 Genomic DNA Translation: EAW58799.1
BC022191 mRNA Translation: AAH22191.1
BC067778 mRNA Translation: AAH67778.1
CCDSiCCDS6449.1 [P48380-1]
CCDS6450.1 [P48380-2]
CCDS75809.1 [P48380-3]
PIRiD55926
RefSeqiNP_001269045.1, NM_001282116.1 [P48380-1]
NP_001269046.1, NM_001282117.1 [P48380-3]
NP_002910.1, NM_002919.3 [P48380-2]
NP_602304.1, NM_134428.2 [P48380-1]

3D structure databases

SMRiP48380
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111923, 38 interactors
IntActiP48380, 16 interactors
MINTiP48380
STRINGi9606.ENSP00000371434

PTM databases

iPTMnetiP48380
PhosphoSitePlusiP48380
SwissPalmiP48380

Polymorphism and mutation databases

BioMutaiRFX3
DMDMi32172437

Proteomic databases

EPDiP48380
jPOSTiP48380
MassIVEiP48380
MaxQBiP48380
PaxDbiP48380
PeptideAtlasiP48380
PRIDEiP48380
ProteomicsDBi55883 [P48380-1]
55884 [P48380-2]
55885 [P48380-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23939, 232 antibodies

Genome annotation databases

EnsembliENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3]
ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2]
ENST00000382004; ENSP00000371434; ENSG00000080298 [P48380-1]
ENST00000617270; ENSP00000482598; ENSG00000080298 [P48380-1]
GeneIDi5991
KEGGihsa:5991
UCSCiuc003zhr.5, human [P48380-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5991
DisGeNETi5991
EuPathDBiHostDB:ENSG00000080298.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		RFX3
HGNCiHGNC:9984, RFX3
HPAiENSG00000080298, Tissue enhanced (brain, testis)
MIMi601337, gene
neXtProtiNX_P48380
OpenTargetsiENSG00000080298
PharmGKBiPA34354

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3712, Eukaryota
GeneTreeiENSGT00980000198514
HOGENOMiCLU_010393_1_1_1
InParanoidiP48380
OMAiFYRNSSM
OrthoDBi346630at2759
PhylomeDBiP48380
TreeFamiTF321340

Enzyme and pathway databases

PathwayCommonsiP48380

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5991, 11 hits in 867 CRISPR screens

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

More...ChiTaRSi		RFX3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RFX3

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

More...GenomeRNAii		5991
PharosiP48380, Tbio

Protein Ontology

More...PROi		PR:P48380
RNActiP48380, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000080298, Expressed in oviduct epithelium and 207 other tissues
ExpressionAtlasiP48380, baseline and differential
GenevisibleiP48380, HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150, DNA-bd_RFX
IPR039779, RFX-like
IPR007668, RFX1_trans_act
IPR036388, WH-like_DNA-bd_sf
IPR036390, WH_DNA-bd_sf
PANTHERiPTHR12619, PTHR12619, 1 hit
PfamiView protein in Pfam
PF04589, RFX1_trans_act, 1 hit
PF02257, RFX_DNA_binding, 1 hit
SUPFAMiSSF46785, SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526, RFX_DBD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiRFX3_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: P48380
Secondary accession number(s): A8K0H5
, D3DRH8, D3DRH9, Q5JTL7, Q5JTL8, Q6NW13, Q8WTU4, Q95HL5, Q95HL6
<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: February 1, 1996
Last sequence update: June 20, 2003
Last modified: December 2, 2020
This is version 175 of the entry and version 2 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
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