ID   FBX47_HUMAN             Reviewed;         452 AA.
AC   Q5MNV8; B2RTZ4;
DT   15-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   03-AUG-2022, entry version 111.
DE   RecName: Full=F-box only protein 47;
GN   Name=FBXO47 {ECO:0000303|PubMed:28397838, ECO:0000312|HGNC:HGNC:31969};
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], TISSUE SPECIFICITY, AND VARIANT ARG-209.
RC   TISSUE=Testis;
RX   PubMed=15723337; DOI=10.1002/gcc.20170;
RA   Simon-Kayser B., Scoul C., Renaudin K., Jezequel P., Bouchot O., Rigaud J.,
RA   Bezieau S.;
RT   "Molecular cloning and characterization of FBXO47, a novel gene containing
RT   an F-box domain, located in the 17q12 band deleted in papillary renal cell
RT   carcinoma.";
RL   Genes Chromosomes Cancer 43:83-94(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA   Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA   Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA   LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA   Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA   Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA   Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT   human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-209.
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   [4]
RP   VARIANT GLY-182.
RX   PubMed=28397838; DOI=10.1038/mp.2017.60;
RA   Harripaul R., Vasli N., Mikhailov A., Rafiq M.A., Mittal K.,
RA   Windpassinger C., Sheikh T.I., Noor A., Mahmood H., Downey S., Johnson M.,
RA   Vleuten K., Bell L., Ilyas M., Khan F.S., Khan V., Moradi M., Ayaz M.,
RA   Naeem F., Heidari A., Ahmed I., Ghadami S., Agha Z., Zeinali S., Qamar R.,
RA   Mozhdehipanah H., John P., Mir A., Ansar M., French L., Ayub M.,
RA   Vincent J.B.;
RT   "Mapping autosomal recessive intellectual disability: combined microarray
RT   and exome sequencing identifies 26 novel candidate genes in 192
RT   consanguineous families.";
RL   Mol. Psychiatry 23:973-984(2018).
CC   -!- FUNCTION: Probably recognizes and binds to some phosphorylated proteins
CC       and promotes their ubiquitination and degradation. {ECO:0000250}.
CC   -!- SUBUNIT: Part of a SCF (SKP1-cullin-F-box) protein ligase complex.
CC       {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney,
CC       liver and pancreas. Down-regulated in tumors.
CC       {ECO:0000269|PubMed:15723337}.
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DR   EMBL; AY700575; AAV91324.1; -; mRNA.
DR   EMBL; AC006441; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC140879; AAI40880.1; -; mRNA.
DR   EMBL; BC140880; AAI40881.1; -; mRNA.
DR   CCDS; CCDS32639.1; -.
DR   RefSeq; NP_001008777.2; NM_001008777.2.
DR   AlphaFoldDB; Q5MNV8; -.
DR   STRING; 9606.ENSP00000367319; -.
DR   iPTMnet; Q5MNV8; -.
DR   PhosphoSitePlus; Q5MNV8; -.
DR   BioMuta; FBXO47; -.
DR   DMDM; 296434512; -.
DR   jPOST; Q5MNV8; -.
DR   MassIVE; Q5MNV8; -.
DR   PaxDb; Q5MNV8; -.
DR   PeptideAtlas; Q5MNV8; -.
DR   PRIDE; Q5MNV8; -.
DR   ProteomicsDB; 63588; -.
DR   Antibodypedia; 65659; 66 antibodies from 14 providers.
DR   DNASU; 494188; -.
DR   Ensembl; ENST00000378079.3; ENSP00000367319.2; ENSG00000204952.3.
DR   GeneID; 494188; -.
DR   KEGG; hsa:494188; -.
DR   MANE-Select; ENST00000378079.3; ENSP00000367319.2; NM_001008777.3; NP_001008777.2.
DR   UCSC; uc002hrc.2; human.
DR   CTD; 494188; -.
DR   DisGeNET; 494188; -.
DR   GeneCards; FBXO47; -.
DR   HGNC; HGNC:31969; FBXO47.
DR   HPA; ENSG00000204952; Tissue enriched (testis).
DR   MIM; 609498; gene.
DR   neXtProt; NX_Q5MNV8; -.
DR   OpenTargets; ENSG00000204952; -.
DR   PharmGKB; PA162388157; -.
DR   VEuPathDB; HostDB:ENSG00000204952; -.
DR   eggNOG; ENOG502QV8T; Eukaryota.
DR   GeneTree; ENSGT00390000014175; -.
DR   HOGENOM; CLU_048746_0_0_1; -.
DR   InParanoid; Q5MNV8; -.
DR   OMA; PWPLVSQ; -.
DR   OrthoDB; 803884at2759; -.
DR   PhylomeDB; Q5MNV8; -.
DR   TreeFam; TF343134; -.
DR   PathwayCommons; Q5MNV8; -.
DR   BioGRID-ORCS; 494188; 31 hits in 1107 CRISPR screens.
DR   ChiTaRS; FBXO47; human.
DR   GenomeRNAi; 494188; -.
DR   Pharos; Q5MNV8; Tdark.
DR   PRO; PR:Q5MNV8; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q5MNV8; protein.
DR   Bgee; ENSG00000204952; Expressed in testis and 2 other tissues.
DR   InterPro; IPR036047; F-box-like_dom_sf.
DR   InterPro; IPR001810; F-box_dom.
DR   InterPro; IPR038946; FBXO47.
DR   PANTHER; PTHR34098; PTHR34098; 1.
DR   Pfam; PF00646; F-box; 1.
DR   SUPFAM; SSF81383; SSF81383; 1.
DR   PROSITE; PS50181; FBOX; 1.
PE   2: Evidence at transcript level;
KW   Reference proteome; Ubl conjugation pathway.
FT   CHAIN           1..452
FT                   /note="F-box only protein 47"
FT                   /id="PRO_0000119952"
FT   DOMAIN          41..91
FT                   /note="F-box"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00080"
FT   VARIANT         182
FT                   /note="R -> G (found in a consanguineous family with
FT                   intellectual disability; unknown pathological significance;
FT                   dbSNP:rs759147995)"
FT                   /evidence="ECO:0000269|PubMed:28397838"
FT                   /id="VAR_080770"
FT   VARIANT         209
FT                   /note="Q -> R (in dbSNP:rs9906595)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:15723337"
FT                   /id="VAR_049052"
SQ   SEQUENCE   452 AA;  51968 MW;  703CBF21CAF67FB9 CRC64;
     MASRINTNFT LIPNQKLRRS NRQTSCYSKT LGSGFQPIST FGNFKALPLE IFQIILKYLS
     VKDISMLSMV SKTVSQHIIN YISTSSGSKR LLLQDFHNLE LPDRRQDSAI LEHYRSLGLL
     FKRCTLLLPT KERLKYIHKI LTEVSCFKFN GCAAPMQCLG LTCYGMFLQT LTAGWDELEC
     HRVYNFLCEL TNLCRKIQMA VCSKPGSAQK LELRIRLFCR NVLLDHWTHR SDSAFWLTRI
     LKPWPMVNQA RLLYIIFGPI SPQDGQVVWQ EMIEEPTDEF SLKGLADAIK LLYDASTKEW
     TADDVISLVD ELSVVPREWL LENNARLLML SGNNICFSFM ASKAVNGRTI ELARLVVFLA
     LVCEKELYCM DWTVKMMQKV CKVFSTPVER KNFLQNVANA FACVIMEMLQ SIMSGDRDED
     DRSFLNLFHL VHAQANFHKE VLYLTMNTPL ST