RFX8_HUMAN
ID RFX8_HUMAN Reviewed; 586 AA.
AC Q6ZV50; B4DQ32;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=DNA-binding protein RFX8;
DE AltName: Full=Regulatory factor X 8;
GN Name=RFX8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- FUNCTION: May be a transcription factor. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZV50-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZV50-2; Sequence=VSP_039427, VSP_039428, VSP_039430,
CC VSP_039431;
CC Name=3;
CC IsoId=Q6ZV50-3; Sequence=VSP_039427, VSP_039429;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the RFX family. {ECO:0000255|PROSITE-
CC ProRule:PRU00858}.
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DR EMBL; AK124976; BAC86013.1; -; mRNA.
DR EMBL; AK298610; BAG60794.1; -; mRNA.
DR EMBL; AC092570; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS46376.1; -. [Q6ZV50-3]
DR RefSeq; NP_001139136.1; NM_001145664.1. [Q6ZV50-3]
DR RefSeq; XP_016860340.1; XM_017004851.1. [Q6ZV50-1]
DR AlphaFoldDB; Q6ZV50; -.
DR SMR; Q6ZV50; -.
DR iPTMnet; Q6ZV50; -.
DR PhosphoSitePlus; Q6ZV50; -.
DR BioMuta; RFX8; -.
DR DMDM; 172046177; -.
DR jPOST; Q6ZV50; -.
DR PaxDb; Q6ZV50; -.
DR PeptideAtlas; Q6ZV50; -.
DR PRIDE; Q6ZV50; -.
DR ProteomicsDB; 68385; -. [Q6ZV50-1]
DR ProteomicsDB; 68387; -. [Q6ZV50-3]
DR Antibodypedia; 55182; 17 antibodies from 9 providers.
DR DNASU; 731220; -.
DR Ensembl; ENST00000428343.6; ENSP00000401536.1; ENSG00000196460.14. [Q6ZV50-3]
DR GeneID; 731220; -.
DR KEGG; hsa:731220; -.
DR MANE-Select; ENST00000428343.6; ENSP00000401536.1; NM_001145664.2; NP_001139136.2. [Q6ZV50-3]
DR UCSC; uc010yvx.2; human. [Q6ZV50-1]
DR CTD; 731220; -.
DR DisGeNET; 731220; -.
DR GeneCards; RFX8; -.
DR HGNC; HGNC:37253; RFX8.
DR HPA; ENSG00000196460; Tissue enhanced (bone).
DR neXtProt; NX_Q6ZV50; -.
DR OpenTargets; ENSG00000196460; -.
DR PharmGKB; PA165697419; -.
DR VEuPathDB; HostDB:ENSG00000196460; -.
DR eggNOG; KOG3712; Eukaryota.
DR GeneTree; ENSGT01050000244879; -.
DR HOGENOM; CLU_039469_0_0_1; -.
DR InParanoid; Q6ZV50; -.
DR OrthoDB; 346630at2759; -.
DR PhylomeDB; Q6ZV50; -.
DR TreeFam; TF342109; -.
DR PathwayCommons; Q6ZV50; -.
DR BioGRID-ORCS; 731220; 11 hits in 1071 CRISPR screens.
DR ChiTaRS; RFX8; human.
DR GenomeRNAi; 731220; -.
DR Pharos; Q6ZV50; Tdark.
DR PRO; PR:Q6ZV50; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZV50; protein.
DR Bgee; ENSG00000196460; Expressed in bone marrow and 96 other tissues.
DR ExpressionAtlas; Q6ZV50; baseline and differential.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR003150; DNA-bd_RFX.
DR InterPro; IPR039779; RFX-like.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR12619; PTHR12619; 1.
DR Pfam; PF02257; RFX_DNA_binding; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS51526; RFX_DBD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..586
FT /note="DNA-binding protein RFX8"
FT /id="PRO_0000325808"
FT DNA_BIND 22..97
FT /note="RFX-type winged-helix"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00858"
FT VAR_SEQ 1..42
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039427"
FT VAR_SEQ 67..174
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039428"
FT VAR_SEQ 67..137
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039429"
FT VAR_SEQ 194..195
FT /note="ED -> RN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039430"
FT VAR_SEQ 196..586
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039431"
FT CONFLICT 166
FT /note="Q -> L (in Ref. 1; BAG60794)"
FT /evidence="ECO:0000305"
FT CONFLICT 525
FT /note="M -> T (in Ref. 1; BAG60794)"
FT /evidence="ECO:0000305"
FT CONFLICT 573
FT /note="S -> N (in Ref. 1; BAC86013)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 586 AA; 66266 MW; ADC1E9173563B0BF CRC64;
MAEGVPASPS SGEGSRGPHS GVIQWLVDNF CICEECSVPR CLMYEIYVET CGQNTENQVN
PATFGKLVRL VFPDLGTRRL GTRGSARYHY DGICIKKSSF FYAQYCYLIG EKRYHSGDAI
AFEKSTNYNS IIQQEATCED HSPMKTDPVG SPLSEFRRCP FLEQEQAKKY SCNMMAFLAD
EYCNYCRDIL RNVEDLLTSF WKSLQQDTVM LMSLPDVCQL FKCYDVQLYK GIEDVLLHDF
LEDVSIQYLK SVQLFSKKFK LWLLNALEGV PALLQISKLK EVTLFVKRLR RKTYLSNMAK
TMRMVLKSKR RVSVLKSDLQ AIINQGTLAT SKKALASDRS GADELENNPE MKCLRNLISL
LGTSTDLRVF LSCLSSHLQA FVFQTSRSKE EFTKLAASFQ LRWNLLLTAV SKAMTLCHRD
SFGSWHLFHL LLLEYMIHIL QSCLEEEEEE EDMGTVKEML PDDPTLGQPD QALFHSLNSS
LSQACASPSM EPLGVMPTHM GQGRYPVGVS NMVLRILGFL VDTAMGNKLI QVLLEDETTE
SAVKLSLPMG QEALITLKDG QQFVIQISDV PQSSEDIYFR ENNANV
