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Entry version 123 (18 Sep 2019)
Sequence version 2 (03 May 2011)
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Protein

Transcription factor RFX4

Gene

RFX4

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 that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi44 – 126Add BLAST83
DNA bindingi61 – 136RFX-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

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 processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q33E94

<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_and_taxonomy_section">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 RFX4
Alternative name(s):
Regulatory factor X 4
Testis development protein NYD-SP10
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:RFX4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 12

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:9985 RFX4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603958 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q33E94

<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
5992

Open Targets

More...
OpenTargetsi
ENSG00000111783

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34355

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RFX4

Domain mapping of disease mutations (DMDM)

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DMDMi
332278145

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003142371 – 735Transcription factor RFX4Add BLAST735

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q33E94

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q33E94

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

More...
PaxDbi
Q33E94

PeptideAtlas

More...
PeptideAtlasi
Q33E94

PRoteomics IDEntifications database

More...
PRIDEi
Q33E94

ProteomicsDB human proteome resource

More...
ProteomicsDBi
61639 [Q33E94-1]
61640 [Q33E94-2]
61641 [Q33E94-3]
61642 [Q33E94-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q33E94

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

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PhosphoSitePlusi
Q33E94

<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

Isoform 1: Expressed in brain and gliomas (at protein level). Isoform 2: Testis-specific (at protein level). Isoform 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher level in adult testes and ejaculated spematozoa than in fetal testes. Isoform 4: Testis-specific.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000111783 Expressed in 78 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q33E94 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q33E94 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA050527

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Heterodimer with RFX2 and RFX3 (PubMed:11682486).

Interacts with GPS2 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
taxP140793EBI-9675925,EBI-9675698From Human T-cell leukemia virus 1 (isolate Caribbea HS-35 subtype A).

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111924, 4 interactors

Protein interaction database and analysis system

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IntActi
Q33E94, 1 interactor

Molecular INTeraction database

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MINTi
Q33E94

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350552

<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

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SMRi
Q33E94

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

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>Regioni315 – 487Necessary for dimerizationAdd BLAST173

<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

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eggNOGi
ENOG410IT81 Eukaryota
ENOG410XSKJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182657

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013104

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q33E94

KEGG Orthology (KO)

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KOi
K09174

Identification of Orthologs from Complete Genome Data

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OMAi
WIERCLS

Database of Orthologous Groups

More...
OrthoDBi
346630at2759

TreeFam database of animal gene trees

More...
TreeFami
TF321340

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003150 DNA-bd_RFX
IPR039779 RFX-like
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

The PANTHER Classification System

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PANTHERi
PTHR12619 PTHR12619, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02257 RFX_DNA_binding, 1 hit

Superfamily database of structural and functional annotation

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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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q33E94-1) [UniParc]FASTAAdd to basket
Also known as: RFX4-D, RFX4_v3

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
MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN
60 70 80 90 100
RASKPHSTPA TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA
110 120 130 140 150
ASFGKIIRQQ FPQLTTRRLG TRGQSKYHYY GIAVKESSQY YDVMYSKKGA
160 170 180 190 200
AWVSETGKKE VSKQTVAYSP RSKLGTLLPE FPNVKDLNLP ASLPEEKVST
210 220 230 240 250
FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML PVLGSSTVVN
260 270 280 290 300
IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD
310 320 330 340 350
LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW
360 370 380 390 400
RNVDLNSITK QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW
410 420 430 440 450
LDTMVDRCVV KVAAKRQGSL KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF
460 470 480 490 500
GSFHLIHLMF DDYVLYLLES LHCQERANEL MRAMKGEGST AEVREEIILT
510 520 530 540 550
EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG LSTTGAMQSY
560 570 580 590 600
TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY
610 620 630 640 650
TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS
660 670 680 690 700
PTSRMEPCLM SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD
710 720 730
MYTPLTTRRN SEYEHMQHFP GFAYINGEAS TGWAK
Length:735
Mass (Da):83,368
Last modified:May 3, 2011 - 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:i9C2422428B9D7E8B
GO
Isoform 2 (identifier: Q33E94-2) [UniParc]FASTAAdd to basket
Also known as: RFX4-C, RFX4_v4

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR

Show »
Length:744
Mass (Da):84,479
Checksum:i5A36FF5CB5D8EFB7
GO
Isoform 3 (identifier: Q33E94-3) [UniParc]FASTAAdd to basket
Also known as: RFX4-A, RFX4_v1

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     95-126: TQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK → MNWAAFGGSEFFIPEGIQIDSRCPLSRNITEW

Show »
Length:641
Mass (Da):72,561
Checksum:i55FD9787E6771AF8
GO
Isoform 4 (identifier: Q33E94-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR
     546-554: AMQSYTWSL → NGKSFKNFG
     555-735: Missing.

Show »
Length:563
Mass (Da):64,181
Checksum:i67D9817BB0BC6B9E
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DZB7B4DZB7_HUMAN
Transcription factor RFX4
RFX4
247Annotation 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>
F8W1T9F8W1T9_HUMAN
Transcription factor RFX4
RFX4
77Annotation 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>
F8VRD4F8VRD4_HUMAN
Transcription factor RFX4
RFX4
256Annotation 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>
F8VZC4F8VZC4_HUMAN
Transcription factor RFX4
RFX4
59Annotation 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>
R4GMS3R4GMS3_HUMAN
Transcription factor RFX4
RFX4
145Annotation 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>
F8VX50F8VX50_HUMAN
Transcription factor RFX4
RFX4
39Annotation 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>

<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 BAB59001 differs from that shown. Probable intron retention.Curated
The sequence BAC11288 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE48237 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE48238 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti417Q → R in AAK17191 (PubMed:16193984).Curated1
Sequence conflicti423V → E in BAC11288 (PubMed:14702039).Curated1
Sequence conflicti477A → T in AAH28582 (PubMed:15489334).Curated1
Sequence conflicti522V → M in AAM52484 (PubMed:12925582).Curated1
Sequence conflicti549S → A in BAE48231 (PubMed:16271074).Curated1
Sequence conflicti549S → A in BAE48237 (PubMed:16271074).Curated1
Sequence conflicti549S → A in BAE48238 (PubMed:16271074).Curated1
Sequence conflicti549S → A in AAK17191 (PubMed:16193984).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_037873687S → N2 Publications1
Natural variantiVAR_057152698S → A. Corresponds to variant dbSNP:rs17038766Ensembl.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_0302421 – 94Missing in isoform 3. 3 PublicationsAdd BLAST94
Alternative sequenceiVSP_0302431 – 12MHCGL…EPDMD → MIKRRAHPGAGGDRTRPRRR R in isoform 2 and isoform 4. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_03024495 – 126TQPVN…RGQSK → MNWAAFGGSEFFIPEGIQID SRCPLSRNITEW in isoform 3. 3 PublicationsAdd BLAST32
Alternative sequenceiVSP_030245546 – 554AMQSYTWSL → NGKSFKNFG in isoform 4. 1 Publication9
Alternative sequenceiVSP_030246555 – 735Missing in isoform 4. 1 PublicationAdd BLAST181

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY102009 mRNA Translation: AAM52484.1
AB095365 mRNA Translation: BAE48231.1
AB095366 mRNA Translation: BAE48232.1
AB195784 mRNA Translation: BAE48237.1 Different initiation.
AB195785 mRNA Translation: BAE48238.1 Different initiation.
AF332192 mRNA Translation: AAK17191.1
AK074913 mRNA Translation: BAC11288.1 Different initiation.
AK291445 mRNA Translation: BAF84134.1
AK315698 mRNA Translation: BAG38061.1
AC009721 Genomic DNA No translation available.
AC079385 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97783.1
CH471054 Genomic DNA Translation: EAW97784.1
CH471054 Genomic DNA Translation: EAW97782.1
BC028582 mRNA Translation: AAH28582.1
BC030644 mRNA Translation: AAH30644.1
AB044245 mRNA Translation: BAB59001.1 Sequence problems.
AL833921 mRNA Translation: CAD38777.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS55880.1 [Q33E94-2]
CCDS9106.1 [Q33E94-1]
CCDS9108.1 [Q33E94-3]

NCBI Reference Sequences

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RefSeqi
NP_001193620.1, NM_001206691.1 [Q33E94-2]
NP_115880.2, NM_032491.5 [Q33E94-3]
NP_998759.1, NM_213594.2 [Q33E94-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000229387; ENSP00000229387; ENSG00000111783 [Q33E94-3]
ENST00000357881; ENSP00000350552; ENSG00000111783 [Q33E94-2]
ENST00000392842; ENSP00000376585; ENSG00000111783 [Q33E94-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5992

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5992

UCSC genome browser

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UCSCi
uc001tlr.4 human [Q33E94-1]

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
AY102009 mRNA Translation: AAM52484.1
AB095365 mRNA Translation: BAE48231.1
AB095366 mRNA Translation: BAE48232.1
AB195784 mRNA Translation: BAE48237.1 Different initiation.
AB195785 mRNA Translation: BAE48238.1 Different initiation.
AF332192 mRNA Translation: AAK17191.1
AK074913 mRNA Translation: BAC11288.1 Different initiation.
AK291445 mRNA Translation: BAF84134.1
AK315698 mRNA Translation: BAG38061.1
AC009721 Genomic DNA No translation available.
AC079385 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97783.1
CH471054 Genomic DNA Translation: EAW97784.1
CH471054 Genomic DNA Translation: EAW97782.1
BC028582 mRNA Translation: AAH28582.1
BC030644 mRNA Translation: AAH30644.1
AB044245 mRNA Translation: BAB59001.1 Sequence problems.
AL833921 mRNA Translation: CAD38777.1
CCDSiCCDS55880.1 [Q33E94-2]
CCDS9106.1 [Q33E94-1]
CCDS9108.1 [Q33E94-3]
RefSeqiNP_001193620.1, NM_001206691.1 [Q33E94-2]
NP_115880.2, NM_032491.5 [Q33E94-3]
NP_998759.1, NM_213594.2 [Q33E94-1]

3D structure databases

SMRiQ33E94
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111924, 4 interactors
IntActiQ33E94, 1 interactor
MINTiQ33E94
STRINGi9606.ENSP00000350552

PTM databases

iPTMnetiQ33E94
PhosphoSitePlusiQ33E94

Polymorphism and mutation databases

BioMutaiRFX4
DMDMi332278145

Proteomic databases

jPOSTiQ33E94
MassIVEiQ33E94
PaxDbiQ33E94
PeptideAtlasiQ33E94
PRIDEiQ33E94
ProteomicsDBi61639 [Q33E94-1]
61640 [Q33E94-2]
61641 [Q33E94-3]
61642 [Q33E94-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5992
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229387; ENSP00000229387; ENSG00000111783 [Q33E94-3]
ENST00000357881; ENSP00000350552; ENSG00000111783 [Q33E94-2]
ENST00000392842; ENSP00000376585; ENSG00000111783 [Q33E94-1]
GeneIDi5992
KEGGihsa:5992
UCSCiuc001tlr.4 human [Q33E94-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5992
DisGeNETi5992

GeneCards: human genes, protein and diseases

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GeneCardsi
RFX4
HGNCiHGNC:9985 RFX4
HPAiHPA050527
MIMi603958 gene
neXtProtiNX_Q33E94
OpenTargetsiENSG00000111783
PharmGKBiPA34355

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IT81 Eukaryota
ENOG410XSKJ LUCA
GeneTreeiENSGT00950000182657
HOGENOMiHOG000013104
InParanoidiQ33E94
KOiK09174
OMAiWIERCLS
OrthoDBi346630at2759
TreeFamiTF321340

Enzyme and pathway databases

SIGNORiQ33E94

Miscellaneous databases

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

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ChiTaRSi
RFX4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RFX4

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

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GenomeRNAii
5992

Pharos

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Pharosi
Q33E94

Protein Ontology

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PROi
PR:Q33E94

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111783 Expressed in 78 organ(s), highest expression level in testis
ExpressionAtlasiQ33E94 baseline and differential
GenevisibleiQ33E94 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150 DNA-bd_RFX
IPR039779 RFX-like
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12619 PTHR12619, 1 hit
PfamiView protein in Pfam
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

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ProtoNeti
Search...

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 nameiRFX4_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: Q33E94
Secondary accession number(s): A8K5Y0
, B2RDW4, Q33DW6, Q33DW7, Q33E95, Q6YM53, Q8MHQ1, Q8NC78, Q8NDF9, Q8SNA1, Q96S80, Q9BXI0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 3, 2011
Last modified: September 18, 2019
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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