DRC6_HUMAN
ID DRC6_HUMAN Reviewed; 735 AA.
AC Q8NEE6; C9J565; C9J566; Q6UVW7; Q6UVW8; Q75MN5; Q86UJ5; Q8N7Y4; Q8TCL2;
AC Q8WUF9; Q8WUG0;
DT 15-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Dynein regulatory complex subunit 6 {ECO:0000250|UniProtKB:Q8CDU4};
DE AltName: Full=F-box and leucine-rich repeat protein 13;
DE AltName: Full=F-box/LRR-repeat protein 13;
GN Name=FBXL13; Synonyms=DRC6 {ECO:0000250|UniProtKB:Q8CDU4}, FBL13;
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] (ISOFORMS 3 AND 4).
RX PubMed=15820312; DOI=10.1016/j.ygeno.2005.01.013;
RA Curtiss N.P., Bonifas J.M., Lauchle J.O., Balkman J.D., Kratz C.P.,
RA Emerling B.M., Green E.D., Le Beau M.M., Shannon K.M.;
RT "Isolation and analysis of candidate myeloid tumor suppressor genes from a
RT commonly deleted segment of 7q22.";
RL Genomics 85:600-607(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT MET-74.
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS MET-74 AND
RP GLY-692.
RC TISSUE=Kidney, Liver, and Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 285-735.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: Component of the nexin-dynein regulatory complex (N-DRC), a
CC key regulator of ciliary/flagellar motility which maintains the
CC alignment and integrity of the distal axoneme and regulates microtubule
CC sliding in motile axonemes. Substrate-recognition component of the SCF
CC (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
CC {ECO:0000250, ECO:0000250|UniProtKB:A8JHD7}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC Directly interacts with SKP1 and CUL1. Interacts with TCTE1/DRC5.
CC {ECO:0000250, ECO:0000250|UniProtKB:A8JHD7,
CC ECO:0000250|UniProtKB:Q8CDU4}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000250|UniProtKB:A8JHD7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8NEE6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEE6-2; Sequence=VSP_013004;
CC Name=3;
CC IsoId=Q8NEE6-3; Sequence=VSP_013005;
CC Name=4;
CC IsoId=Q8NEE6-4; Sequence=VSP_013003;
CC -!- SIMILARITY: Belongs to the DRC6 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD28506.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY359238; AAR13262.1; -; mRNA.
DR EMBL; AY359239; AAR13263.1; -; mRNA.
DR EMBL; AK097537; BAC05092.1; -; mRNA.
DR EMBL; AC005250; AAP22333.1; -; Genomic_DNA.
DR EMBL; AC006477; AAS00354.1; -; Genomic_DNA.
DR EMBL; AC073127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC020572; AAH20572.2; -; mRNA.
DR EMBL; BC020575; AAH20575.2; -; mRNA.
DR EMBL; BC031285; AAH31285.1; -; mRNA.
DR EMBL; AL713709; CAD28506.1; ALT_INIT; mRNA.
DR CCDS; CCDS47678.1; -. [Q8NEE6-3]
DR CCDS; CCDS5726.1; -. [Q8NEE6-1]
DR CCDS; CCDS75649.1; -. [Q8NEE6-2]
DR RefSeq; NP_001104508.1; NM_001111038.1. [Q8NEE6-3]
DR RefSeq; NP_001274079.1; NM_001287150.1. [Q8NEE6-2]
DR RefSeq; NP_659469.3; NM_145032.3. [Q8NEE6-1]
DR RefSeq; XP_005250266.1; XM_005250209.2. [Q8NEE6-1]
DR RefSeq; XP_011514232.1; XM_011515930.2. [Q8NEE6-1]
DR RefSeq; XP_016867342.1; XM_017011853.1. [Q8NEE6-1]
DR AlphaFoldDB; Q8NEE6; -.
DR SMR; Q8NEE6; -.
DR BioGRID; 128792; 41.
DR IntAct; Q8NEE6; 5.
DR MINT; Q8NEE6; -.
DR STRING; 9606.ENSP00000321927; -.
DR iPTMnet; Q8NEE6; -.
DR PhosphoSitePlus; Q8NEE6; -.
DR SwissPalm; Q8NEE6; -.
DR BioMuta; FBXL13; -.
DR DMDM; 311033450; -.
DR MaxQB; Q8NEE6; -.
DR PaxDb; Q8NEE6; -.
DR PeptideAtlas; Q8NEE6; -.
DR PRIDE; Q8NEE6; -.
DR ProteomicsDB; 73152; -. [Q8NEE6-1]
DR ProteomicsDB; 73153; -. [Q8NEE6-2]
DR ProteomicsDB; 73154; -. [Q8NEE6-3]
DR ProteomicsDB; 73155; -. [Q8NEE6-4]
DR Antibodypedia; 31140; 104 antibodies from 21 providers.
DR DNASU; 222235; -.
DR Ensembl; ENST00000313221.8; ENSP00000321927.4; ENSG00000161040.17. [Q8NEE6-1]
DR Ensembl; ENST00000379305.7; ENSP00000368607.3; ENSG00000161040.17. [Q8NEE6-2]
DR Ensembl; ENST00000436908.5; ENSP00000388608.1; ENSG00000161040.17. [Q8NEE6-1]
DR Ensembl; ENST00000455112.6; ENSP00000391550.2; ENSG00000161040.17. [Q8NEE6-3]
DR Ensembl; ENST00000456695.5; ENSP00000409716.1; ENSG00000161040.17. [Q8NEE6-4]
DR GeneID; 222235; -.
DR KEGG; hsa:222235; -.
DR UCSC; uc003vaq.3; human. [Q8NEE6-1]
DR CTD; 222235; -.
DR DisGeNET; 222235; -.
DR GeneCards; FBXL13; -.
DR HGNC; HGNC:21658; FBXL13.
DR HPA; ENSG00000161040; Tissue enriched (testis).
DR MIM; 609080; gene.
DR neXtProt; NX_Q8NEE6; -.
DR OpenTargets; ENSG00000161040; -.
DR PharmGKB; PA134938720; -.
DR VEuPathDB; HostDB:ENSG00000161040; -.
DR eggNOG; KOG1947; Eukaryota.
DR GeneTree; ENSGT00940000160224; -.
DR HOGENOM; CLU_012282_0_0_1; -.
DR InParanoid; Q8NEE6; -.
DR OMA; DKHYPNI; -.
DR OrthoDB; 1282076at2759; -.
DR PhylomeDB; Q8NEE6; -.
DR TreeFam; TF329711; -.
DR PathwayCommons; Q8NEE6; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q8NEE6; -.
DR BioGRID-ORCS; 222235; 17 hits in 1118 CRISPR screens.
DR ChiTaRS; FBXL13; human.
DR GenomeRNAi; 222235; -.
DR Pharos; Q8NEE6; Tdark.
DR PRO; PR:Q8NEE6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8NEE6; protein.
DR Bgee; ENSG00000161040; Expressed in sperm and 108 other tissues.
DR ExpressionAtlas; Q8NEE6; baseline and differential.
DR Genevisible; Q8NEE6; HS.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
DR GO; GO:0019005; C:SCF ubiquitin ligase complex; IBA:GO_Central.
DR GO; GO:0031146; P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 3.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR001810; F-box_dom.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR006553; Leu-rich_rpt_Cys-con_subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13516; LRR_6; 4.
DR SMART; SM00367; LRR_CC; 14.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS50181; FBOX; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Flagellum; Leucine-rich repeat; Reference proteome; Repeat;
KW Ubl conjugation pathway.
FT CHAIN 1..735
FT /note="Dynein regulatory complex subunit 6"
FT /id="PRO_0000119859"
FT DOMAIN 152..198
FT /note="F-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00080"
FT REPEAT 230..254
FT /note="LRR 1"
FT REPEAT 255..280
FT /note="LRR 2"
FT REPEAT 281..305
FT /note="LRR 3"
FT REPEAT 306..333
FT /note="LRR 4"
FT REPEAT 334..359
FT /note="LRR 5"
FT REPEAT 360..385
FT /note="LRR 6"
FT REPEAT 386..406
FT /note="LRR 7"
FT REPEAT 410..435
FT /note="LRR 8"
FT REPEAT 436..460
FT /note="LRR 9"
FT REPEAT 461..488
FT /note="LRR 10"
FT REPEAT 489..514
FT /note="LRR 11"
FT REPEAT 515..538
FT /note="LRR 12"
FT REPEAT 539..563
FT /note="LRR 13"
FT REPEAT 564..589
FT /note="LRR 14"
FT REPEAT 590..615
FT /note="LRR 15"
FT REPEAT 616..641
FT /note="LRR 16"
FT REPEAT 642..667
FT /note="LRR 17"
FT REGION 682..703
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 337..618
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15820312"
FT /id="VSP_013003"
FT VAR_SEQ 546..573
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013004"
FT VAR_SEQ 574..618
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15820312"
FT /id="VSP_013005"
FT VARIANT 74
FT /note="I -> M (in dbSNP:rs7805950)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_021480"
FT VARIANT 313
FT /note="G -> A (in dbSNP:rs17135923)"
FT /id="VAR_031426"
FT VARIANT 535
FT /note="I -> V (in dbSNP:rs17135873)"
FT /id="VAR_031427"
FT VARIANT 565
FT /note="Y -> C (in dbSNP:rs17136118)"
FT /id="VAR_031428"
FT VARIANT 692
FT /note="D -> G (in dbSNP:rs17852944)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031429"
FT CONFLICT 110
FT /note="I -> V (in Ref. 1; AAR13262)"
FT /evidence="ECO:0000305"
FT CONFLICT 337
FT /note="I -> V (in Ref. 1; AAR13263)"
FT /evidence="ECO:0000305"
FT CONFLICT 496
FT /note="S -> F (in Ref. 5; CAD28506)"
FT /evidence="ECO:0000305"
FT CONFLICT 674
FT /note="K -> E (in Ref. 1; AAR13263)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 735 AA; 83924 MW; 27F92DC4693C2581 CRC64;
MTPELMIKAC SFYTGHLVKT HFCTWRDIAR TNENVVLAEK MNRAVTCYNF RLQKSVFHHW
HSYMEDQKEK LKNILLRIQQ IIYCHKLTII LTKWRNTARH KSKKKEDELI LKHELQLKKW
KNRLILKRAA AEESNFPERS SSEVFLVDET LKCDISLLPE RAILQIFFYL SLKDVIICGQ
VNHAWMLMTQ LNSLWNAIDF SSVKNVIPDK YIVSTLQRWR LNVLRLNFRG CLLRPKTFRS
VSHCRNLQEL NVSDCPTFTD ESMRHISEGC PGVLCLNLSN TTITNRTMRL LPRHFHNLQN
LSLAYCRRFT DKGLQYLNLG NGCHKLIYLD LSGCTQISVQ GFRYIANSCT GIMHLTINDM
PTLTDNCVKA LVEKCSRITS LVFTGAPHIS DCTFRALSAC KLRKIRFEGN KRVTDASFKF
IDKNYPNLSH IYMADCKGIT DSSLRSLSPL KQLTVLNLAN CVRIGDMGLK QFLDGPASMR
IRELNLSNCV RLSDASVMKL SERCPNLNYL SLRNCEHLTA QGIGYIVNIF SLVSIDLSGT
DISNEGLNVL SRHKKLKELS VSECYRITDD GIQAFCKSSL ILEHLDVSYC SQLSDMIIKA
LAIYCINLTS LSIAGCPKIT DSAMEMLSAK CHYLHILDIS GCVLLTDQIL EDLQIGCKQL
RILKMQYCTN ISKKAAQRMS SKVQQQEYNT NDPPRWFGYD REGNPVTELD NITSSKGALE
LTVKKSTYSS EDQAA
