FBX8_HUMAN
ID FBX8_HUMAN Reviewed; 319 AA.
AC Q9NRD0; B2RB40; D3DP41; G5E9Z0; Q6UWN4; Q8IWE1; Q9NRP5; Q9UKC4;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=F-box only protein 8;
DE AltName: Full=F-box/SEC7 protein FBS;
GN Name=FBXO8; Synonyms=FBS, FBX8; ORFNames=DC10, UNQ1877/PRO4320;
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 [MRNA] (ISOFORM 1).
RX PubMed=10531035; DOI=10.1016/s0960-9822(00)80020-2;
RA Cenciarelli C., Chiaur D.S., Guardavaccaro D., Parks W., Vidal M.,
RA Pagano M.;
RT "Identification of a family of human F-box proteins.";
RL Curr. Biol. 9:1177-1179(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10945468; DOI=10.1006/geno.2000.6211;
RA Ilyin G.P., Rialland M., Pigeon C., Guguen-Guillouzo C.;
RT "cDNA cloning and expression analysis of new members of the mammalian F-box
RT protein family.";
RL Genomics 67:40-47(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Dendritic cell;
RA Li Y., Peng Y., Qian B., Zhang Z., Han Z., Fu G., Chen Z.;
RT "Novel genes expressed in human dendritic cell.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
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).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP MET-51 AND HIS-156.
RC TISSUE=Brain, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP VARIANT [LARGE SCALE ANALYSIS] ILE-269.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May promote guanine-nucleotide exchange on an ARF. Promotes
CC the activation of ARF through replacement of GDP with GTP (Potential).
CC {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NRD0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NRD0-2; Sequence=VSP_055885;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF04517.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF174596; AAF04517.1; ALT_INIT; mRNA.
DR EMBL; AF233224; AAF67154.1; -; mRNA.
DR EMBL; AF201932; AAF86868.1; -; mRNA.
DR EMBL; AY358721; AAQ89083.1; -; mRNA.
DR EMBL; AK314483; BAG37087.1; -; mRNA.
DR EMBL; AC097653; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX04741.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04742.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04744.1; -; Genomic_DNA.
DR EMBL; BC014679; AAH14679.1; -; mRNA.
DR EMBL; BC040456; AAH40456.1; -; mRNA.
DR CCDS; CCDS3820.1; -. [Q9NRD0-1]
DR RefSeq; NP_036312.2; NM_012180.2. [Q9NRD0-1]
DR AlphaFoldDB; Q9NRD0; -.
DR SMR; Q9NRD0; -.
DR BioGRID; 117653; 12.
DR IntAct; Q9NRD0; 3.
DR STRING; 9606.ENSP00000377280; -.
DR iPTMnet; Q9NRD0; -.
DR PhosphoSitePlus; Q9NRD0; -.
DR BioMuta; FBXO8; -.
DR DMDM; 13124142; -.
DR EPD; Q9NRD0; -.
DR MassIVE; Q9NRD0; -.
DR PaxDb; Q9NRD0; -.
DR PeptideAtlas; Q9NRD0; -.
DR PRIDE; Q9NRD0; -.
DR ProteomicsDB; 34088; -.
DR ProteomicsDB; 82337; -. [Q9NRD0-1]
DR Antibodypedia; 1238; 233 antibodies from 24 providers.
DR DNASU; 26269; -.
DR Ensembl; ENST00000393674.7; ENSP00000377280.2; ENSG00000164117.14. [Q9NRD0-1]
DR Ensembl; ENST00000503293.5; ENSP00000422905.1; ENSG00000164117.14. [Q9NRD0-2]
DR Ensembl; ENST00000615392.4; ENSP00000484517.1; ENSG00000164117.14. [Q9NRD0-2]
DR GeneID; 26269; -.
DR KEGG; hsa:26269; -.
DR MANE-Select; ENST00000393674.7; ENSP00000377280.2; NM_012180.3; NP_036312.2.
DR UCSC; uc003itp.4; human. [Q9NRD0-1]
DR CTD; 26269; -.
DR DisGeNET; 26269; -.
DR GeneCards; FBXO8; -.
DR HGNC; HGNC:13587; FBXO8.
DR HPA; ENSG00000164117; Low tissue specificity.
DR MIM; 605649; gene.
DR neXtProt; NX_Q9NRD0; -.
DR OpenTargets; ENSG00000164117; -.
DR PharmGKB; PA28048; -.
DR VEuPathDB; HostDB:ENSG00000164117; -.
DR eggNOG; KOG0929; Eukaryota.
DR GeneTree; ENSGT00940000158356; -.
DR HOGENOM; CLU_057531_0_0_1; -.
DR InParanoid; Q9NRD0; -.
DR OMA; FFKHIHA; -.
DR PhylomeDB; Q9NRD0; -.
DR PathwayCommons; Q9NRD0; -.
DR SignaLink; Q9NRD0; -.
DR BioGRID-ORCS; 26269; 16 hits in 1118 CRISPR screens.
DR ChiTaRS; FBXO8; human.
DR GenomeRNAi; 26269; -.
DR Pharos; Q9NRD0; Tbio.
DR PRO; PR:Q9NRD0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NRD0; protein.
DR Bgee; ENSG00000164117; Expressed in jejunal mucosa and 178 other tissues.
DR ExpressionAtlas; Q9NRD0; baseline and differential.
DR Genevisible; Q9NRD0; HS.
DR GO; GO:0000151; C:ubiquitin ligase complex; NAS:UniProtKB.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR GO; GO:0032012; P:regulation of ARF protein signal transduction; IEA:InterPro.
DR GO; GO:0006511; P:ubiquitin-dependent protein catabolic process; NAS:UniProtKB.
DR CDD; cd00171; Sec7; 1.
DR Gene3D; 1.10.1000.11; -; 1.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR001810; F-box_dom.
DR InterPro; IPR023394; Sec7_C_sf.
DR InterPro; IPR000904; Sec7_dom.
DR InterPro; IPR035999; Sec7_dom_sf.
DR Pfam; PF12937; F-box-like; 1.
DR Pfam; PF01369; Sec7; 1.
DR SMART; SM00222; Sec7; 1.
DR SUPFAM; SSF48425; SSF48425; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS50181; FBOX; 1.
DR PROSITE; PS50190; SEC7; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Guanine-nucleotide releasing factor;
KW Reference proteome.
FT CHAIN 1..319
FT /note="F-box only protein 8"
FT /id="PRO_0000120218"
FT DOMAIN 68..111
FT /note="F-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00080"
FT DOMAIN 146..276
FT /note="SEC7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00189"
FT VAR_SEQ 59..99
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055885"
FT VARIANT 51
FT /note="I -> M (in dbSNP:rs17857220)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_071118"
FT VARIANT 156
FT /note="Y -> H (in dbSNP:rs17854000)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_071119"
FT VARIANT 269
FT /note="L -> I (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036157"
FT CONFLICT 34
FT /note="A -> D (in Ref. 4; AAQ89083)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="C -> W (in Ref. 3; AAF86868)"
FT /evidence="ECO:0000305"
FT CONFLICT 135
FT /note="L -> V (in Ref. 3; AAF86868)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 319 AA; 37068 MW; 125D6D6B57CA7C79 CRC64;
MGQGLWRVVR NQQLQQEGYS EQGYLTREQS RRMAASNISN TNHRKQVQGG IDIYHLLKAR
KSKEQEGFIN LEMLPPELSF TILSYLNATD LCLASCVWQD LANDELLWQG LCKSTWGHCS
IYNKNPPLGF SFRKLYMQLD EGSLTFNANP DEGVNYFMSK GILDDSPKEI AKFIFCTRTL
NWKKLRIYLD ERRDVLDDLV TLHNFRNQFL PNALREFFRH IHAPEERGEY LETLITKFSH
RFCACNPDLM RELGLSPDAV YVLCYSLILL SIDLTSPHVK NKMSKREFIR NTRRAAQNIS
EDFVGHLYDN IYLIGHVAA
