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Protein

DNA-binding protein RFX8

Gene

RFX8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

May be a transcription factor.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi22 – 9776RFX-type winged-helixPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:37253. RFX8.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165697419.

Polymorphism and mutation databases

BioMutaiRFX8.
DMDMi172046177.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 586586DNA-binding protein RFX8PRO_0000325808Add
BLAST

Proteomic databases

PaxDbiQ6ZV50.
PRIDEiQ6ZV50.

PTM databases

iPTMnetiQ6ZV50.
PhosphoSiteiQ6ZV50.

Expressioni

Gene expression databases

BgeeiENSG00000196460.
ExpressionAtlasiQ6ZV50. baseline and differential.

Organism-specific databases

HPAiCAB010762.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000401536.

Structurei

3D structure databases

ProteinModelPortaliQ6ZV50.
SMRiQ6ZV50. Positions 23-96.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation
Contains 1 RFX-type winged-helix DNA-binding domain.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.
InterProiIPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti166 – 1661Q → L in BAG60794 (PubMed:14702039).Curated
Sequence conflicti525 – 5251M → T in BAG60794 (PubMed:14702039).Curated
Sequence conflicti573 – 5731S → N in BAC86013 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4242Missing in isoform 2 and isoform 3. 1 PublicationVSP_039427Add
BLAST
Alternative sequencei67 – 174108Missing in isoform 2. 1 PublicationVSP_039428Add
BLAST
Alternative sequencei67 – 13771Missing in isoform 3. 1 PublicationVSP_039429Add
BLAST
Alternative sequencei194 – 1952ED → RN in isoform 2. 1 PublicationVSP_039430
Alternative sequencei196 – 586391Missing in isoform 2. 1 PublicationVSP_039431Add
BLAST

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.
UniGeneiHs.662488.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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.
UniGeneiHs.662488.

3D structure databases

ProteinModelPortaliQ6ZV50.
SMRiQ6ZV50. Positions 23-96.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000401536.

PTM databases

iPTMnetiQ6ZV50.
PhosphoSiteiQ6ZV50.

Polymorphism and mutation databases

BioMutaiRFX8.
DMDMi172046177.

Proteomic databases

PaxDbiQ6ZV50.
PRIDEiQ6ZV50.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi731220.
GeneCardsiRFX8.
HGNCiHGNC:37253. RFX8.
HPAiCAB010762.
neXtProtiNX_Q6ZV50.
PharmGKBiPA165697419.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii731220.
PROiQ6ZV50.

Gene expression databases

BgeeiENSG00000196460.
ExpressionAtlasiQ6ZV50. baseline and differential.

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]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRFX8_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV50
Secondary accession number(s): B4DQ32
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: September 7, 2016
This is version 86 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.