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Protein

DNA-binding protein RFX8

Gene

RFX8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May be a transcription factor.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi22 – 97RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX8
Alternative name(s):
Regulatory factor X 8
Gene namesi
Name:RFX8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000196460.12
HGNCiHGNC:37253 RFX8
neXtProtiNX_Q6ZV50

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000196460
PharmGKBiPA165697419

Polymorphism and mutation databases

BioMutaiRFX8
DMDMi172046177

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003258081 – 586DNA-binding protein RFX8Add BLAST586

Proteomic databases

PaxDbiQ6ZV50
PRIDEiQ6ZV50

PTM databases

iPTMnetiQ6ZV50
PhosphoSitePlusiQ6ZV50

Expressioni

Gene expression databases

BgeeiENSG00000196460
ExpressionAtlasiQ6ZV50 baseline and differential

Organism-specific databases

HPAiHPA059745

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000401536

Structurei

3D structure databases

ProteinModelPortaliQ6ZV50
SMRiQ6ZV50
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000155476
HOVERGENiHBG108690
InParanoidiQ6ZV50
OMAiKFKLWLL
OrthoDBiEOG091G07PK
PhylomeDBiQ6ZV50
TreeFamiTF342109

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150 DNA-bd_RFX
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZV50-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAEGVPASPS SGEGSRGPHS GVIQWLVDNF CICEECSVPR CLMYEIYVET
60 70 80 90 100
CGQNTENQVN PATFGKLVRL VFPDLGTRRL GTRGSARYHY DGICIKKSSF
110 120 130 140 150
FYAQYCYLIG EKRYHSGDAI AFEKSTNYNS IIQQEATCED HSPMKTDPVG
160 170 180 190 200
SPLSEFRRCP FLEQEQAKKY SCNMMAFLAD EYCNYCRDIL RNVEDLLTSF
210 220 230 240 250
WKSLQQDTVM LMSLPDVCQL FKCYDVQLYK GIEDVLLHDF LEDVSIQYLK
260 270 280 290 300
SVQLFSKKFK LWLLNALEGV PALLQISKLK EVTLFVKRLR RKTYLSNMAK
310 320 330 340 350
TMRMVLKSKR RVSVLKSDLQ AIINQGTLAT SKKALASDRS GADELENNPE
360 370 380 390 400
MKCLRNLISL LGTSTDLRVF LSCLSSHLQA FVFQTSRSKE EFTKLAASFQ
410 420 430 440 450
LRWNLLLTAV SKAMTLCHRD SFGSWHLFHL LLLEYMIHIL QSCLEEEEEE
460 470 480 490 500
EDMGTVKEML PDDPTLGQPD QALFHSLNSS LSQACASPSM EPLGVMPTHM
510 520 530 540 550
GQGRYPVGVS NMVLRILGFL VDTAMGNKLI QVLLEDETTE SAVKLSLPMG
560 570 580
QEALITLKDG QQFVIQISDV PQSSEDIYFR ENNANV
Note: No experimental confirmation available.
Length:586
Mass (Da):66,266
Last modified:March 18, 2008 - v2
Checksum:iADC1E9173563B0BF
GO
Isoform 2 (identifier: Q6ZV50-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.
     67-174: Missing.
     194-195: ED → RN
     196-586: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:45
Mass (Da):5,299
Checksum:iDA0D2B15A141FCE5
GO
Isoform 3 (identifier: Q6ZV50-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.
     67-137: Missing.

Show »
Length:473
Mass (Da):53,707
Checksum:iA877644578C19FCE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti166Q → L in BAG60794 (PubMed:14702039).Curated1
Sequence conflicti525M → T in BAG60794 (PubMed:14702039).Curated1
Sequence conflicti573S → N in BAC86013 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0394271 – 42Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_03942867 – 174Missing in isoform 2. 1 PublicationAdd BLAST108
Alternative sequenceiVSP_03942967 – 137Missing in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_039430194 – 195ED → RN in isoform 2. 1 Publication2
Alternative sequenceiVSP_039431196 – 586Missing in isoform 2. 1 PublicationAdd BLAST391

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124976 mRNA Translation: BAC86013.1
AK298610 mRNA Translation: BAG60794.1
AC092570 Genomic DNA No translation available.
CCDSiCCDS46376.1 [Q6ZV50-3]
RefSeqiNP_001139136.1, NM_001145664.1
XP_016860340.1, XM_017004851.1 [Q6ZV50-1]
UniGeneiHs.662488

Genome annotation databases

EnsembliENST00000428343; ENSP00000401536; ENSG00000196460 [Q6ZV50-3]
GeneIDi731220
KEGGihsa:731220
UCSCiuc010yvx.2 human [Q6ZV50-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRFX8_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV50
Secondary accession number(s): B4DQ32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: March 28, 2018
This is version 96 of the entry and version 2 of the sequence. See 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
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Main funding by: National Institutes of Health