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UniProtKB - P48382 (RFX5_HUMAN)

Entry version 176 (12 Aug 2020)
Sequence version 1 (01 Feb 1996)
Previous versions | rss
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Protein

DNA-binding protein RFX5

Gene

RFX5

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

Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.

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 bindingi92 – 168RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST77

<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 functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P48382

SIGNOR Signaling Network Open Resource

More...SIGNORi		P48382

<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:
DNA-binding protein RFX5
Alternative name(s):
Regulatory factor X 5
<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:RFX5
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000143390.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:9986, RFX5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601863, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48382

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bare lymphocyte syndrome 2 (BLS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
Related information in OMIM
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_015550149R → Q in BLS2. 1 PublicationCorresponds to variant dbSNP:rs137853099EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

More...DisGeNETi		5993

MalaCards human disease database

More...MalaCardsi		RFX5
MIMi209920, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143390

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		572, Immunodeficiency by defective expression of MHC class II

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34356

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P48382, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RFX5

Domain mapping of disease mutations (DMDM)

More...DMDMi		1350587

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002152922 – 616DNA-binding protein RFX5Add BLAST615

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei10PhosphoserineCombined sources1
Modified residuei185PhosphoserineCombined sources1

<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

Phosphorylated.

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P48382

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P48382

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P48382

MaxQB - The MaxQuant DataBase

More...MaxQBi		P48382

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

More...PaxDbi		P48382

PeptideAtlas

More...PeptideAtlasi		P48382

PRoteomics IDEntifications database

More...PRIDEi		P48382

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55886 [P48382-1]
6925

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P48382

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P48382

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

More...PhosphoSitePlusi		P48382

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143390, Expressed in female gonad and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P48382, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48382, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143390, Low tissue specificity

<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

Homodimer. The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group.

Interacts (via PxLPxI/L motif) with RFXANK (via ankyrin repeats); the interaction is direct. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex.

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111925, 30 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P48382

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P48382

Protein interaction database and analysis system

More...IntActi		P48382, 14 interactors

Molecular INTeraction database

More...MINTi		P48382

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000290524

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P48382, 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

Secondary structure

1616
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P48382

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P48382

<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

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>Regioni25 – 90N-terminal domainAdd BLAST66
Regioni62 – 66Leucine-rich region; critical for dimer formation and for interaction with RFXAP5

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi173 – 178PxLPxI/L motif; mediates interaction with RFXANK1 Publication6

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminus is required for dimer formation, association with RFXANK and RFXAP, assembly of the RFX complex, and for binding of this complex to its X box target site in the MHC-II promoter. The C-terminus mediates cooperative binding between the RFX complex and NF-Y.1 Publication
The PxLPxI/L motif mediates interaction with ankyrin repeats of RFXANK.1 Publication

<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		ENSGT00980000198574

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48382

KEGG Orthology (KO)

More...KOi		K08061

Identification of Orthologs from Complete Genome Data

More...OMAi		NPEGGAH

Database of Orthologous Groups

More...OrthoDBi		67697at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48382

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

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00452

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003150, DNA-bd_RFX
IPR039779, RFX-like
IPR033486, RFX5
IPR029298, RFX5_C
IPR040889, RFX5_N
IPR036388, WH-like_DNA-bd_sf
IPR036390, WH_DNA-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR12619, PTHR12619, 1 hit
PTHR12619:SF18, PTHR12619:SF18, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14621, RFX5_DNA_bdg, 1 hit
PF18326, RFX5_N, 1 hit
PF02257, RFX_DNA_binding, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01306, RFX5_DNA_bdg, 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 (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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48382-1) [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
MAEDEPDAKS PKTGGRAPPG GAEAGEPTTL LQRLRGTISK AVQNKVEGIL 
        60         70         80         90        100
QDVQKFSDND KLYLYLQLPS GPTTGDKSSE PSTLSNEEYM YAYRWIRNHL 
       110        120        130        140        150
EEHTDTCLPK QSVYDAYRKY CESLACCRPL STANFGKIIR EIFPDIKARR 
       160        170        180        190        200
LGGRGQSKYC YSGIRRKTLV SMPPLPGLDL KGSESPEMGP EVTPAPRDEL 
       210        220        230        240        250
VEAACALTCD WAERILKRSF SSIVEVARFL LQQHLISARS AHAHVLKAMG 
       260        270        280        290        300
LAEEDEHAPR ERSSKPKNGL ENPEGGAHKK PERLAQPPKD LEARTGAGPL 
       310        320        330        340        350
ARGERKKSVV ESSAPGANNL QVNALVARLP LLLPRAPRSL IPPIPVSPPI 
       360        370        380        390        400
LAPRLSSGAL KVATLPLSSR AGAPPAAVPI INMILPTVPA LPGPGPGPGR 
       410        420        430        440        450
APPGGLTQPR GTENREVGIG GDQGPHDKGV KRTAEVPVSE ASGQAPPAKA 
       460        470        480        490        500
AKQDIEDTAS DAKRKRGRPR KKSGGSGERN STPLKSAAAM ESAQSSRLPW 
       510        520        530        540        550
ETWGSGGEGN SAGGAERPGP MGEAEKGAVL AQGQGDGTVS KGGRGPGSQH 
       560        570        580        590        600
TKEAEDKIPL VPSKVSVIKG SRSQKEAFPL AKGEVDTAPQ GNKDLKEHVL 
       610 
QSSLSQEHKD PKATPP
Length:616
Mass (Da):65,323
Last modified:February 1, 1996 - 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:i5EBB33C677BB717F
GO
Isoform 2 (identifier: P48382-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-117: Missing.

Show »
Length:576
Mass (Da):60,513
Checksum:iF8DEC5FCB5675383
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W689F8W689_HUMAN
DNA-binding protein RFX5
RFX5
596Annotation 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>
H0Y4B4H0Y4B4_HUMAN
DNA-binding protein RFX5
RFX5
235Annotation 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>
F6R6G4F6R6G4_HUMAN
DNA-binding protein RFX5
RFX5
165Annotation 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>
F6UE82F6UE82_HUMAN
DNA-binding protein RFX5
RFX5
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>
F6X9D6F6X9D6_HUMAN
DNA-binding protein RFX5
RFX5
123Annotation 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>
A0A0A0MSQ2A0A0A0MSQ2_HUMAN
DNA-binding protein RFX5
RFX5
229Annotation 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>
F6S3S0F6S3S0_HUMAN
DNA-binding protein RFX5
RFX5
96Annotation 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>
F8WDU3F8WDU3_HUMAN
DNA-binding protein RFX5
RFX5
42Annotation 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>
A0A0A0MSM9A0A0A0MSM9_HUMAN
DNA-binding protein RFX5
RFX5
117Annotation 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>
F8WFE4F8WFE4_HUMAN
DNA-binding protein RFX5
RFX5
44Annotation 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015550149R → Q in BLS2. 1 PublicationCorresponds to variant dbSNP:rs137853099EnsemblClinVar.1
Natural variantiVAR_034448197R → Q. Corresponds to variant dbSNP:rs2233851EnsemblClinVar.1
Natural variantiVAR_034449409P → R. Corresponds to variant dbSNP:rs2233854EnsemblClinVar.1
Natural variantiVAR_034450499P → S. Corresponds to variant dbSNP:rs2233855EnsemblClinVar.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_05586478 – 117Missing in isoform 2. 1 PublicationAdd BLAST40

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
X85786 mRNA Translation: CAA59771.1
AK302891 mRNA Translation: BAH13834.1
AL391069 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53446.1
CH471121 Genomic DNA Translation: EAW53447.1
CH471121 Genomic DNA Translation: EAW53448.1
BC017471 mRNA Translation: AAH17471.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS994.1 [P48382-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I38155

NCBI Reference Sequences

More...RefSeqi		NP_000440.1, NM_000449.3 [P48382-1]
NP_001020774.1, NM_001025603.1 [P48382-1]
XP_005245462.1, XM_005245405.1 [P48382-1]
XP_005245463.1, XM_005245406.3 [P48382-1]
XP_011508149.1, XM_011509847.1 [P48382-1]
XP_011508150.1, XM_011509848.1 [P48382-1]
XP_011508151.1, XM_011509849.1 [P48382-1]
XP_011508152.1, XM_011509850.1 [P48382-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000290524; ENSP00000290524; ENSG00000143390 [P48382-1]
ENST00000368870; ENSP00000357864; ENSG00000143390 [P48382-1]
ENST00000452671; ENSP00000389130; ENSG00000143390 [P48382-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5993

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5993

UCSC genome browser

More...UCSCi		uc001exv.2, human [P48382-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

RFX5base

RFX5 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X85786 mRNA Translation: CAA59771.1
AK302891 mRNA Translation: BAH13834.1
AL391069 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53446.1
CH471121 Genomic DNA Translation: EAW53447.1
CH471121 Genomic DNA Translation: EAW53448.1
BC017471 mRNA Translation: AAH17471.1
CCDSiCCDS994.1 [P48382-1]
PIRiI38155
RefSeqiNP_000440.1, NM_000449.3 [P48382-1]
NP_001020774.1, NM_001025603.1 [P48382-1]
XP_005245462.1, XM_005245405.1 [P48382-1]
XP_005245463.1, XM_005245406.3 [P48382-1]
XP_011508149.1, XM_011509847.1 [P48382-1]
XP_011508150.1, XM_011509848.1 [P48382-1]
XP_011508151.1, XM_011509849.1 [P48382-1]
XP_011508152.1, XM_011509850.1 [P48382-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KW3NMR-A/B24-90[»]
3V30X-ray1.57B167-183[»]
SMRiP48382
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111925, 30 interactors
CORUMiP48382
ELMiP48382
IntActiP48382, 14 interactors
MINTiP48382
STRINGi9606.ENSP00000290524

PTM databases

iPTMnetiP48382
MetOSiteiP48382
PhosphoSitePlusiP48382

Polymorphism and mutation databases

BioMutaiRFX5
DMDMi1350587

Proteomic databases

EPDiP48382
jPOSTiP48382
MassIVEiP48382
MaxQBiP48382
PaxDbiP48382
PeptideAtlasiP48382
PRIDEiP48382
ProteomicsDBi55886 [P48382-1]
6925

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		683, 286 antibodies

The DNASU plasmid repository

More...DNASUi		5993

Genome annotation databases

EnsembliENST00000290524; ENSP00000290524; ENSG00000143390 [P48382-1]
ENST00000368870; ENSP00000357864; ENSG00000143390 [P48382-1]
ENST00000452671; ENSP00000389130; ENSG00000143390 [P48382-1]
GeneIDi5993
KEGGihsa:5993
UCSCiuc001exv.2, human [P48382-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5993
DisGeNETi5993
EuPathDBiHostDB:ENSG00000143390.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		RFX5
HGNCiHGNC:9986, RFX5
HPAiENSG00000143390, Low tissue specificity
MalaCardsiRFX5
MIMi209920, phenotype
601863, gene
neXtProtiNX_P48382
OpenTargetsiENSG00000143390
Orphaneti572, Immunodeficiency by defective expression of MHC class II
PharmGKBiPA34356

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3712, Eukaryota
GeneTreeiENSGT00980000198574
InParanoidiP48382
KOiK08061
OMAiNPEGGAH
OrthoDBi67697at2759
PhylomeDBiP48382
TreeFamiTF321340

Enzyme and pathway databases

PathwayCommonsiP48382
SIGNORiP48382

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5993, 33 hits in 893 CRISPR screens

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

More...ChiTaRSi		RFX5, human
EvolutionaryTraceiP48382

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RFX5

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

More...GenomeRNAii		5993
PharosiP48382, Tbio

Protein Ontology

More...PROi		PR:P48382
RNActiP48382, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143390, Expressed in female gonad and 238 other tissues
ExpressionAtlasiP48382, baseline and differential
GenevisibleiP48382, HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
IDEALiIID00452
InterProiView protein in InterPro
IPR003150, DNA-bd_RFX
IPR039779, RFX-like
IPR033486, RFX5
IPR029298, RFX5_C
IPR040889, RFX5_N
IPR036388, WH-like_DNA-bd_sf
IPR036390, WH_DNA-bd_sf
PANTHERiPTHR12619, PTHR12619, 1 hit
PTHR12619:SF18, PTHR12619:SF18, 1 hit
PfamiView protein in Pfam
PF14621, RFX5_DNA_bdg, 1 hit
PF18326, RFX5_N, 1 hit
PF02257, RFX_DNA_binding, 1 hit
SMARTiView protein in SMART
SM01306, RFX5_DNA_bdg, 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 nameiRFX5_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: P48382
Secondary accession number(s): B7Z848
, D3DV19, E9PFU4, Q5VWC3
<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: February 1, 1996
Last modified: August 12, 2020
This is version 176 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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