FBX40_HUMAN
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 03-AUG-2022, entry version 154.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT 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., 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 [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., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., 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., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., 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., 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 [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 project:
RT 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 (SKP1-
CC CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function
CC in myogenesis. {ECO:0000250}.
CC -!- SUBUNIT: Directly interacts with SKP1 and CUL1. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed only in heart and skeletal muscle.
CC {ECO:0000269|PubMed:17928169}.
CC -!- MISCELLANEOUS: The expression decreases in the dystrophic muscle of
CC Limb-girdle muscular dystrophy (LGMD) patient.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86509.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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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 CCDS; CCDS33835.1; -.
DR RefSeq; NP_057382.2; NM_016298.3.
DR AlphaFoldDB; Q9UH90; -.
DR SMR; Q9UH90; -.
DR BioGRID; 119698; 14.
DR IntAct; Q9UH90; 6.
DR STRING; 9606.ENSP00000337510; -.
DR iPTMnet; Q9UH90; -.
DR PhosphoSitePlus; Q9UH90; -.
DR BioMuta; FBXO40; -.
DR DMDM; 124012094; -.
DR MassIVE; Q9UH90; -.
DR PaxDb; Q9UH90; -.
DR PeptideAtlas; Q9UH90; -.
DR PRIDE; Q9UH90; -.
DR ProteomicsDB; 84285; -.
DR Antibodypedia; 1237; 125 antibodies from 20 providers.
DR DNASU; 51725; -.
DR Ensembl; ENST00000338040.6; ENSP00000337510.4; ENSG00000163833.8.
DR GeneID; 51725; -.
DR KEGG; hsa:51725; -.
DR MANE-Select; ENST00000338040.6; ENSP00000337510.4; NM_016298.4; NP_057382.2.
DR UCSC; uc003eeg.3; human.
DR CTD; 51725; -.
DR DisGeNET; 51725; -.
DR GeneCards; FBXO40; -.
DR HGNC; HGNC:29816; FBXO40.
DR HPA; ENSG00000163833; Group enriched (heart muscle, skeletal muscle, tongue).
DR MIM; 609107; gene.
DR neXtProt; NX_Q9UH90; -.
DR OpenTargets; ENSG00000163833; -.
DR PharmGKB; PA134971542; -.
DR VEuPathDB; HostDB:ENSG00000163833; -.
DR eggNOG; ENOG502QVHX; Eukaryota.
DR GeneTree; ENSGT00950000183204; -.
DR HOGENOM; CLU_013357_0_0_1; -.
DR InParanoid; Q9UH90; -.
DR OMA; ERCFNRH; -.
DR OrthoDB; 1009974at2759; -.
DR PhylomeDB; Q9UH90; -.
DR TreeFam; TF343227; -.
DR PathwayCommons; Q9UH90; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q9UH90; -.
DR BioGRID-ORCS; 51725; 10 hits in 1113 CRISPR screens.
DR GenomeRNAi; 51725; -.
DR Pharos; Q9UH90; Tbio.
DR PRO; PR:Q9UH90; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9UH90; protein.
DR Bgee; ENSG00000163833; Expressed in gluteal muscle and 92 other tissues.
DR Genevisible; Q9UH90; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0061630; 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; 3.30.40.10; -; 1.
DR Gene3D; 3.30.40.150; -; 1.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR001810; F-box_dom.
DR InterPro; IPR031890; Fbxo30/Fbxo40.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR001293; Znf_TRAF.
DR InterPro; IPR043013; Znf_TRAF_N.
DR PANTHER; PTHR15933; PTHR15933; 1.
DR Pfam; PF15966; F-box_4; 1.
DR Pfam; PF15965; zf-TRAF_2; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS50181; FBOX; 1.
DR PROSITE; PS50145; ZF_TRAF; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Metal-binding; Reference proteome; Ubl conjugation pathway;
KW Zinc; Zinc-finger.
FT CHAIN 1..709
FT /note="F-box only protein 40"
FT /id="PRO_0000119938"
FT DOMAIN 570..624
FT /note="F-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00080"
FT ZN_FING 53..112
FT /note="TRAF-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00207"
FT REGION 232..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 241..274
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 87
FT /note="V -> A (in dbSNP:rs4676684)"
FT /id="VAR_030005"
FT CONFLICT 45
FT /note="T -> A (in Ref. 1; AAF17085)"
FT /evidence="ECO:0000305"
FT CONFLICT 146
FT /note="L -> P (in Ref. 1; AAF17085)"
FT /evidence="ECO:0000305"
FT CONFLICT 388
FT /note="E -> G (in Ref. 1; AAF17085)"
FT /evidence="ECO:0000305"
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
