ID   FBX40_HUMAN             Reviewed;         709 AA.
AC   Q9UH90; B2RAX7; Q32M70; Q9ULM5;
DT   31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2007, sequence version 2.
DT   18-SEP-2013, entry version 99.
DE   RecName: Full=F-box only protein 40;
DE   AltName: Full=Muscle disease-related protein;
GN   Name=FBXO40; Synonyms=FBX40, KIAA1195;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Muscle;
RA   Zhou Z.G., Wu Y.Q., Ren H.M., Lu C.Z.;
RT   "Cloning of a novel human gene related to muscle disease.";
RL   Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA   Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XV.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 6:337-345(1999).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA   Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA   Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA   Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA   Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA   Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA   Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA   Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA   Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA   Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA   Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA   Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA   Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA   Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA   Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA   Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   TISSUE SPECIFICITY.
RX   PubMed=17928169; DOI=10.1016/j.gene.2007.08.020;
RA   Ye J., Zhang Y., Xu J., Zhang Q., Zhu D.;
RT   "FBXO40, a gene encoding a novel muscle-specific F-box protein, is
RT   upregulated in denervation-related muscle atrophy.";
RL   Gene 404:53-60(2007).
CC   -!- FUNCTION: Probable substrate-recognition component of the SCF
CC       (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that
CC       may function in myogenesis (By similarity).
CC   -!- SUBUNIT: Directly interacts with SKP1 and CUL1 (By similarity).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity).
CC   -!- TISSUE SPECIFICITY: Expressed only in heart and skeletal muscle.
CC   -!- MISCELLANEOUS: The expression decreases in the dystrophic muscle
CC       of Limb-girdle muscular dystrophy (LGMD) patient.
CC   -!- SIMILARITY: Contains 1 F-box domain.
CC   -!- SIMILARITY: Contains 1 TRAF-type zinc finger.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA86509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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DR   EMBL; AF204674; AAF17085.1; -; mRNA.
DR   EMBL; AB033021; BAA86509.1; ALT_INIT; mRNA.
DR   EMBL; AK314400; BAG37024.1; -; mRNA.
DR   EMBL; AC063920; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471052; EAW79508.1; -; Genomic_DNA.
DR   EMBL; BC109275; AAI09276.1; -; mRNA.
DR   EMBL; BC109276; AAI09277.1; -; mRNA.
DR   IPI; IPI00008203; -.
DR   RefSeq; NP_057382.2; NM_016298.3.
DR   UniGene; Hs.272564; -.
DR   ProteinModelPortal; Q9UH90; -.
DR   SMR; Q9UH90; 11-92.
DR   IntAct; Q9UH90; 1.
DR   STRING; 9606.ENSP00000337510; -.
DR   PhosphoSite; Q9UH90; -.
DR   DMDM; 124012094; -.
DR   PaxDb; Q9UH90; -.
DR   PeptideAtlas; Q9UH90; -.
DR   PRIDE; Q9UH90; -.
DR   Ensembl; ENST00000338040; ENSP00000337510; ENSG00000163833.
DR   GeneID; 51725; -.
DR   KEGG; hsa:51725; -.
DR   UCSC; uc003eeg.2; human.
DR   CTD; 51725; -.
DR   GeneCards; GC03P121312; -.
DR   HGNC; HGNC:29816; FBXO40.
DR   HPA; HPA002884; -.
DR   MIM; 609107; gene.
DR   neXtProt; NX_Q9UH90; -.
DR   PharmGKB; PA134971542; -.
DR   eggNOG; NOG82462; -.
DR   HOGENOM; HOG000059618; -.
DR   HOVERGEN; HBG100177; -.
DR   InParanoid; Q9UH90; -.
DR   KO; K10315; -.
DR   OMA; ERDFVYG; -.
DR   OrthoDB; EOG4C2H90; -.
DR   GenomeRNAi; 51725; -.
DR   NextBio; 55776; -.
DR   Bgee; Q9UH90; -.
DR   CleanEx; HS_FBXO40; -.
DR   Genevestigator; Q9UH90; -.
DR   GO; GO:0005813; C:centrosome; IDA:HPA.
DR   GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IDA:HPA.
DR   GO; GO:0004842; F:ubiquitin-protein ligase activity; IEA:InterPro.
DR   GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR   GO; GO:0042692; P:muscle cell differentiation; ISS:UniProtKB.
DR   Gene3D; 3.90.890.10; -; 1.
DR   InterPro; IPR001810; F-box_dom.
DR   InterPro; IPR013323; SIAH-type.
DR   InterPro; IPR001293; Znf_TRAF.
DR   SUPFAM; SSF81383; F-box_dom_Skp2-like; 1.
DR   PROSITE; PS50181; FBOX; 1.
DR   PROSITE; PS50145; ZF_TRAF; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Cytoplasm; Metal-binding; Polymorphism;
KW   Reference proteome; Ubl conjugation pathway; Zinc; Zinc-finger.
FT   CHAIN         1    709       F-box only protein 40.
FT                                /FTId=PRO_0000119938.
FT   DOMAIN      570    624       F-box.
FT   ZN_FING      53    112       TRAF-type.
FT   VARIANT      87     87       V -> A (in dbSNP:rs4676684).
FT                                /FTId=VAR_030005.
FT   CONFLICT     45     45       T -> A (in Ref. 1; AAF17085).
FT   CONFLICT    146    146       L -> P (in Ref. 1; AAF17085).
FT   CONFLICT    388    388       E -> G (in Ref. 1; AAF17085).
SQ   SEQUENCE   709 AA;  79782 MW;  4B69F51EA78D78E3 CRC64;
     MGKARRSPPG HHRHCEGCFN RHCHIPVEPN TSCLVISCHL LCGATFHMCK EAEHQLLCPL
     EQVPCLNSEY GCPLSMSRHK LAKHLQVCPA SVVCCSMEWN RWPNVDSETT LHENIMKETP
     SEECLDTALA LQDQKVLFRS LKMVELFPET REATEEEPTM NGETSVEEMG GAVGGVDIGL
     VPHGLSATNG EMAELSQEER EVLAKTKEGM DLVKFGQWEN IFSKEHAASA LTNSSASCES
     KNKNDSEKEQ ISSGHNMVEG EGAPKKKEPQ ENQKQQDVRT AMETTGLAPW QDGVLERLKT
     AVDAKDYNMY LVHNGRMLIH FGQMPACTPK ERDFVYGKLE AQEVKTVYTF KVPVSYCGKR
     ARLGDAMLSC KPSEHKAVDT SDLGITVEDL PKSDLIKTTL QCALERELKG HVISESRSID
     GLFMDFATQT YNFEPEQFSS GTVLADLTAA TPGGLHVELH SECVTRRHNK SSSAFTFTCN
     KFFRRDEFPL HFKNVHTDIQ SCLNGWFQHR CPLAYLGCTF VQNHFRPPGQ KAKVIYSQEL
     KTFAIKPEVA PELSEGRKNN HLLGHGGKSQ NSLTSLPLEI LKYIAGFLDS VSLAQLSQVS
     VLMRNICATL LQERGMVLLQ WKKKRYSHGG TSWRVHREIW QFSSLFSKIK SWEFNEVTSM
     SEHLKSCPFN IVEHKTDPIL LTSMCQPREQ ARESLVSTFR IRPRGRYVS
//