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UniProtKB - Q8HWS3 (RFX6_HUMAN)

Entry version 155 (07 Apr 2021)
Sequence version 2 (15 Jan 2008)
Previous versions | rss
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Protein

DNA-binding protein RFX6

Gene

RFX6

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 to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100).2 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 bindingi124 – 199RFX-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
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8HWS3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-210745, Regulation of gene expression in beta cells

<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 RFX6
Alternative name(s):
Regulatory factor X 6
Regulatory factor X domain-containing protein 1
<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:RFX6
Synonyms:RFXDC1
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21478, RFX6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612659, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8HWS3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000185002.9

<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

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

Mitchell-Riley syndrome (MTCHRS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features.
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_062978181R → Q in MTCHRS; abolishes DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs267607013EnsemblClinVar.1
Natural variantiVAR_062979217S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years. 1 PublicationCorresponds to variant dbSNP:rs267607012EnsemblClinVar.1
Natural variantiVAR_074215506V → G in MTCHRS; inhibits the transactivation of the insulin and beta-cell L-type calcium channel genes. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		222546

MalaCards human disease database

More...MalaCardsi		RFX6
MIMi615710, phenotype

Open Targets

More...OpenTargetsi		ENSG00000185002

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

More...Orphaneti		293864, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162401254

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8HWS3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RFX6

Domain mapping of disease mutations (DMDM)

More...DMDMi		166225159

<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_00003137211 – 928DNA-binding protein RFX6Add BLAST928

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8HWS3

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

More...PaxDbi		Q8HWS3

PeptideAtlas

More...PeptideAtlasi		Q8HWS3

PRoteomics IDEntifications database

More...PRIDEi		Q8HWS3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70500

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8HWS3

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

More...PhosphoSitePlusi		Q8HWS3

<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

Expressed in pancreas (PubMed:25497100). Expressed in pancreatic beta-cells (insulin-positive cells) and alpha-cells (glucagon-positive cells) (at protein level). Specifically expressed in pancreas, small intestine and colon (PubMed:20148032). Expressed in endocrine cells in the islets (PubMed:25497100).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000185002, Expressed in islet of Langerhans and 51 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8HWS3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000185002, Tissue enhanced (adrenal gland, intestine, pancreas, stomach)

<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

Interacts with RFX3.

By similarity

<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		128803, 42 interactors

Protein interaction database and analysis system

More...IntActi		Q8HWS3, 43 interactors

Molecular INTeraction database

More...MINTi		Q8HWS3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000332208

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8HWS3, 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		Q8HWS3

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		ENSGT00980000198574

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_013981_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8HWS3

Identification of Orthologs from Complete Genome Data

More...OMAi		GSAPCMF

Database of Orthologous Groups

More...OrthoDBi		346630at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8HWS3

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
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
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>Sequencei

<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.

Q8HWS3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAKVPELEDT FLQAQPAPQL SPGIQEDCCV QLLGKGLLVY PEETVYLAAE 
        60         70         80         90        100
GQPGGEQGGG EKGEDPELPG AVKSEMHLNN GNFSSEEEDA DNHDSKTKAA 
       110        120        130        140        150
DQYLSQKKTI TQIVKDKKKQ TQLTLQWLEE NYIVCEGVCL PRCILYAHYL 
       160        170        180        190        200
DFCRKEKLEP ACAATFGKTI RQKFPLLTTR RLGTRGHSKY HYYGIGIKES 
       210        220        230        240        250
SAYYHSVYSG KGLTRFSGSK LKNEGGFTRK YSLSSKTGTL LPEFPSAQHL 
       260        270        280        290        300
VYQGCISKDK VDTLIMMYKT HCQCILDNAI NGNFEEIQHF LLHFWQGMPD 
       310        320        330        340        350
HLLPLLENPV IIDIFCVCDS ILYKVLTDVL IPATMQEMPE SLLADIRNFA 
       360        370        380        390        400
KNWEQWVVSS LENLPEALTD KKIPIVRRFV SSLKRQTSFL HLAQIARPAL 
       410        420        430        440        450
FDQHVVNSMV SDIERVDLNS IGSQALLTIS GSTDTESGIY TEHDSITVFQ 
       460        470        480        490        500
ELKDLLKKNA TVEAFIEWLD TVVEQRVIKT SKQNGRSLKK RAQDFLLKWS 
       510        520        530        540        550
FFGARVMHNL TLNNASSFGS FHLIRMLLDE YILLAMETQF NNDKEQELQN 
       560        570        580        590        600
LLDKYMKNSD ASKAAFTASP SSCFLANRNK GSMVSSDAVK NESHVETTYL 
       610        620        630        640        650
PLPSSQPGGL GPALHQFPAG NTDNMPLTGQ MELSQIAGHL MTPPISPAMA 
       660        670        680        690        700
SRGSVINQGP MAGRPPSVGP VLSAPSHCST YPEPIYPTLP QANHDFYSTS 
       710        720        730        740        750
SNYQTVFRAQ PHSTSGLYPH HTEHGRCMAW TEQQLSRDFF SGSCAGSPYN 
       760        770        780        790        800
SRPPSSYGPS LQAQDSHNMQ FLNTGSFNFL SNTGAASCQG ATLPPNSPNG 
       810        820        830        840        850
YYGSNINYPE SHRLGSMVNQ HVSVISSIRS LPPYSDIHDP LNILDDSGRK 
       860        870        880        890        900
QTSSFYTDTS SPVACRTPVL ASSLQTPIPS SSSQCMYGTS NQYPAQETLD 
       910        920 
SHGTSSREMV SSLPPINTVF MGTAAGGT
Length:928
Mass (Da):102,461
Last modified:January 15, 2008 - 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:i9BB5340736CFC903
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0377096E → K1 PublicationCorresponds to variant dbSNP:rs17853900Ensembl.1
Natural variantiVAR_06176817A → E. Corresponds to variant dbSNP:rs9489056EnsemblClinVar.1
Natural variantiVAR_062978181R → Q in MTCHRS; abolishes DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs267607013EnsemblClinVar.1
Natural variantiVAR_062979217S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years. 1 PublicationCorresponds to variant dbSNP:rs267607012EnsemblClinVar.1
Natural variantiVAR_074215506V → G in MTCHRS; inhibits the transactivation of the insulin and beta-cell L-type calcium channel genes. 1 Publication1
Natural variantiVAR_037710688T → A1 PublicationCorresponds to variant dbSNP:rs17857184Ensembl.1
Natural variantiVAR_037711743S → N. Corresponds to variant dbSNP:rs582803Ensembl.1

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
AL355272 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48213.1
BC039248 mRNA Translation: AAH39248.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5113.1

NCBI Reference Sequences

More...RefSeqi		NP_775831.2, NM_173560.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000332958; ENSP00000332208; ENSG00000185002

Database of genes from NCBI RefSeq genomes

More...GeneIDi		222546

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:222546

UCSC genome browser

More...UCSCi		uc003pxm.4, human

<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
AL355272 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48213.1
BC039248 mRNA Translation: AAH39248.1
CCDSiCCDS5113.1
RefSeqiNP_775831.2, NM_173560.3

3D structure databases

SMRiQ8HWS3
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128803, 42 interactors
IntActiQ8HWS3, 43 interactors
MINTiQ8HWS3
STRINGi9606.ENSP00000332208

PTM databases

iPTMnetiQ8HWS3
PhosphoSitePlusiQ8HWS3

Genetic variation databases

BioMutaiRFX6
DMDMi166225159

Proteomic databases

MassIVEiQ8HWS3
PaxDbiQ8HWS3
PeptideAtlasiQ8HWS3
PRIDEiQ8HWS3
ProteomicsDBi70500

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32535, 68 antibodies

Genome annotation databases

EnsembliENST00000332958; ENSP00000332208; ENSG00000185002
GeneIDi222546
KEGGihsa:222546
UCSCiuc003pxm.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		222546
DisGeNETi222546

GeneCards: human genes, protein and diseases

More...GeneCardsi		RFX6
HGNCiHGNC:21478, RFX6
HPAiENSG00000185002, Tissue enhanced (adrenal gland, intestine, pancreas, stomach)
MalaCardsiRFX6
MIMi612659, gene
615710, phenotype
neXtProtiNX_Q8HWS3
OpenTargetsiENSG00000185002
Orphaneti293864, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
PharmGKBiPA162401254
VEuPathDBiHostDB:ENSG00000185002.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3712, Eukaryota
GeneTreeiENSGT00980000198574
HOGENOMiCLU_013981_0_0_1
InParanoidiQ8HWS3
OMAiGSAPCMF
OrthoDBi346630at2759
PhylomeDBiQ8HWS3
TreeFamiTF321340

Enzyme and pathway databases

PathwayCommonsiQ8HWS3
ReactomeiR-HSA-210745, Regulation of gene expression in beta cells

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		222546, 5 hits in 1006 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RFX6

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

More...GenomeRNAii		222546
PharosiQ8HWS3, Tbio

Protein Ontology

More...PROi		PR:Q8HWS3
RNActiQ8HWS3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000185002, Expressed in islet of Langerhans and 51 other tissues
GenevisibleiQ8HWS3, 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

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 nameiRFX6_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: Q8HWS3
Secondary accession number(s): Q5T6B3
<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: January 15, 2008
Last sequence update: January 15, 2008
Last modified: April 7, 2021
This is version 155 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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