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Q8HWS3

- RFX6_HUMAN

UniProt

Q8HWS3 - RFX6_HUMAN

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Protein
DNA-binding protein RFX6
Gene
RFX6, RFXDC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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. 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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi124 – 19976RFX-type winged-helix1 Publication
Add
BLAST

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. transcription regulatory region DNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. endocrine pancreas development Source: UniProtKB
  2. glucose homeostasis Source: UniProtKB
  3. pancreatic A cell differentiation Source: UniProtKB
  4. pancreatic D cell differentiation Source: UniProtKB
  5. pancreatic epsilon cell differentiation Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. regulation of insulin secretion Source: UniProtKB
  8. transcription, DNA-templated Source: UniProtKB-KW
  9. type B pancreatic cell differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX6
Alternative name(s):
Regulatory factor X 6
Regulatory factor X domain-containing protein 1
Gene namesi
Name:RFX6
Synonyms:RFXDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21478. RFX6.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mitchell-Riley syndrome (MTCHRS) [MIM:615710]: A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti181 – 1811R → Q in MTCHRS; abolishes DNA-binding.
VAR_062978
Natural varianti217 – 2171S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years.
VAR_062979

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi615710. phenotype.
Orphaneti293864. Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome.
PharmGKBiPA162401254.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 928928DNA-binding protein RFX6
PRO_0000313721Add
BLAST

Proteomic databases

PaxDbiQ8HWS3.
PRIDEiQ8HWS3.

PTM databases

PhosphoSiteiQ8HWS3.

Expressioni

Tissue specificityi

Specifically expressed in pancreas, small intestine and colon.1 Publication

Gene expression databases

BgeeiQ8HWS3.
CleanExiHS_RFX6.
GenevestigatoriQ8HWS3.

Organism-specific databases

HPAiHPA037696.

Interactioni

Subunit structurei

Interacts with RFX3 By similarity.

Protein-protein interaction databases

BioGridi128803. 9 interactions.
IntActiQ8HWS3. 10 interactions.
STRINGi9606.ENSP00000332208.

Structurei

3D structure databases

ProteinModelPortaliQ8HWS3.
SMRiQ8HWS3. Positions 124-198.

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.

Phylogenomic databases

eggNOGiNOG243313.
HOGENOMiHOG000154105.
HOVERGENiHBG108402.
OMAiIHDPLNI.
OrthoDBiEOG79CXXT.
PhylomeDBiQ8HWS3.
TreeFamiTF321340.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8HWS3-1 [UniParc]FASTAAdd to Basket

« Hide

MAKVPELEDT FLQAQPAPQL SPGIQEDCCV QLLGKGLLVY PEETVYLAAE    50
GQPGGEQGGG EKGEDPELPG AVKSEMHLNN GNFSSEEEDA DNHDSKTKAA 100
DQYLSQKKTI TQIVKDKKKQ TQLTLQWLEE NYIVCEGVCL PRCILYAHYL 150
DFCRKEKLEP ACAATFGKTI RQKFPLLTTR RLGTRGHSKY HYYGIGIKES 200
SAYYHSVYSG KGLTRFSGSK LKNEGGFTRK YSLSSKTGTL LPEFPSAQHL 250
VYQGCISKDK VDTLIMMYKT HCQCILDNAI NGNFEEIQHF LLHFWQGMPD 300
HLLPLLENPV IIDIFCVCDS ILYKVLTDVL IPATMQEMPE SLLADIRNFA 350
KNWEQWVVSS LENLPEALTD KKIPIVRRFV SSLKRQTSFL HLAQIARPAL 400
FDQHVVNSMV SDIERVDLNS IGSQALLTIS GSTDTESGIY TEHDSITVFQ 450
ELKDLLKKNA TVEAFIEWLD TVVEQRVIKT SKQNGRSLKK RAQDFLLKWS 500
FFGARVMHNL TLNNASSFGS FHLIRMLLDE YILLAMETQF NNDKEQELQN 550
LLDKYMKNSD ASKAAFTASP SSCFLANRNK GSMVSSDAVK NESHVETTYL 600
PLPSSQPGGL GPALHQFPAG NTDNMPLTGQ MELSQIAGHL MTPPISPAMA 650
SRGSVINQGP MAGRPPSVGP VLSAPSHCST YPEPIYPTLP QANHDFYSTS 700
SNYQTVFRAQ PHSTSGLYPH HTEHGRCMAW TEQQLSRDFF SGSCAGSPYN 750
SRPPSSYGPS LQAQDSHNMQ FLNTGSFNFL SNTGAASCQG ATLPPNSPNG 800
YYGSNINYPE SHRLGSMVNQ HVSVISSIRS LPPYSDIHDP LNILDDSGRK 850
QTSSFYTDTS SPVACRTPVL ASSLQTPIPS SSSQCMYGTS NQYPAQETLD 900
SHGTSSREMV SSLPPINTVF MGTAAGGT 928
Length:928
Mass (Da):102,461
Last modified:January 15, 2008 - v2
Checksum:i9BB5340736CFC903
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61E → K.1 Publication
Corresponds to variant rs17853900 [ dbSNP | Ensembl ].
VAR_037709
Natural varianti17 – 171A → E.
Corresponds to variant rs9489056 [ dbSNP | Ensembl ].
VAR_061768
Natural varianti181 – 1811R → Q in MTCHRS; abolishes DNA-binding.
VAR_062978
Natural varianti217 – 2171S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years.
VAR_062979
Natural varianti688 – 6881T → A.1 Publication
Corresponds to variant rs17857184 [ dbSNP | Ensembl ].
VAR_037710
Natural varianti743 – 7431S → N.
Corresponds to variant rs582803 [ dbSNP | Ensembl ].
VAR_037711

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL355272 Genomic DNA. Translation: CAI23444.2.
CH471051 Genomic DNA. Translation: EAW48213.1.
BC039248 mRNA. Translation: AAH39248.1.
CCDSiCCDS5113.1.
RefSeqiNP_775831.2. NM_173560.3.
UniGeneiHs.352276.

Genome annotation databases

EnsembliENST00000332958; ENSP00000332208; ENSG00000185002.
GeneIDi222546.
KEGGihsa:222546.
UCSCiuc003pxm.3. human.

Polymorphism databases

DMDMi166225159.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL355272 Genomic DNA. Translation: CAI23444.2 .
CH471051 Genomic DNA. Translation: EAW48213.1 .
BC039248 mRNA. Translation: AAH39248.1 .
CCDSi CCDS5113.1.
RefSeqi NP_775831.2. NM_173560.3.
UniGenei Hs.352276.

3D structure databases

ProteinModelPortali Q8HWS3.
SMRi Q8HWS3. Positions 124-198.
ModBasei Search...

Protein-protein interaction databases

BioGridi 128803. 9 interactions.
IntActi Q8HWS3. 10 interactions.
STRINGi 9606.ENSP00000332208.

PTM databases

PhosphoSitei Q8HWS3.

Polymorphism databases

DMDMi 166225159.

Proteomic databases

PaxDbi Q8HWS3.
PRIDEi Q8HWS3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332958 ; ENSP00000332208 ; ENSG00000185002 .
GeneIDi 222546.
KEGGi hsa:222546.
UCSCi uc003pxm.3. human.

Organism-specific databases

CTDi 222546.
GeneCardsi GC06P117199.
H-InvDB HIX0025215.
HGNCi HGNC:21478. RFX6.
HPAi HPA037696.
MIMi 612659. gene.
615710. phenotype.
neXtProti NX_Q8HWS3.
Orphaneti 293864. Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome.
PharmGKBi PA162401254.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243313.
HOGENOMi HOG000154105.
HOVERGENi HBG108402.
OMAi IHDPLNI.
OrthoDBi EOG79CXXT.
PhylomeDBi Q8HWS3.
TreeFami TF321340.

Miscellaneous databases

GeneWikii RFX6.
GenomeRNAii 222546.
NextBioi 91623.
PROi Q8HWS3.
SOURCEi Search...

Gene expression databases

Bgeei Q8HWS3.
CleanExi HS_RFX6.
Genevestigatori Q8HWS3.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF02257. RFX_DNA_binding. 1 hit.
[Graphical view ]
PROSITEi PS51526. RFX_DBD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-6 AND ALA-688.
    Tissue: Testis.
  4. "Identification and characterization of novel human tissue-specific RFX transcription factors."
    Aftab S., Semenec L., Chu J.S.-C., Chen N.
    BMC Evol. Biol. 8:226-226(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. Cited for: FUNCTION, DNA-BINDING, TISSUE SPECIFICITY, VARIANTS MTCHRS GLN-181 AND PRO-217, CHARACTERIZATION OF VARIANTS MTCHRS GLN-181 AND PRO-217.

Entry informationi

Entry nameiRFX6_HUMAN
AccessioniPrimary (citable) accession number: Q8HWS3
Secondary accession number(s): Q5T6B3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: September 3, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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