DRC7_HUMAN
ID DRC7_HUMAN Reviewed; 874 AA.
AC Q8IY82; A8K943; Q8NAA0; Q9H080;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Dynein regulatory complex subunit 7;
DE AltName: Full=Coiled-coil domain-containing protein 135;
DE AltName: Full=Coiled-coil domain-containing protein lobo homolog;
GN Name=DRC7; Synonyms=C16orf50, CCDC135;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS SER-186;
RP LEU-433 AND HIS-521.
RC TISSUE=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 573-874, AND VARIANT ARG-766.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
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 (By similarity). Involved in the regulation
CC of flagellar motility (By similarity). Essential for male fertility,
CC sperm head morphogenesis and sperm flagellum formation (By similarity).
CC {ECO:0000250|UniProtKB:A8JAM0, ECO:0000250|UniProtKB:Q6V3W6}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC Interacts with TCTE1/DRC5 (By similarity). Interacts with DRC3 and
CC GAS8/DRC4 (By similarity). {ECO:0000250|UniProtKB:A8JAM0,
CC ECO:0000250|UniProtKB:Q6V3W6}.
CC -!- INTERACTION:
CC Q8IY82; P27797: CALR; NbExp=3; IntAct=EBI-10262896, EBI-1049597;
CC Q8IY82; P36957: DLST; NbExp=3; IntAct=EBI-10262896, EBI-351007;
CC Q8IY82; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-10262896, EBI-2349927;
CC Q8IY82; Q9NS73-5: MBIP; NbExp=3; IntAct=EBI-10262896, EBI-10182361;
CC Q8IY82; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-10262896, EBI-1055945;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:A8JAM0}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A8JAM0}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:A8JAM0}. Note=Associated with the outer
CC doublet microtubules (OD). {ECO:0000250|UniProtKB:A8JAM0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IY82-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IY82-2; Sequence=VSP_023438;
CC -!- SIMILARITY: Belongs to the DRC7 family. {ECO:0000305}.
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DR EMBL; AK093035; BAC04026.1; -; mRNA.
DR EMBL; AK292558; BAF85247.1; -; mRNA.
DR EMBL; AC018552; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036667; AAH36667.1; -; mRNA.
DR EMBL; AL136907; CAB66841.2; -; mRNA.
DR CCDS; CCDS10787.1; -. [Q8IY82-1]
DR CCDS; CCDS73894.1; -. [Q8IY82-2]
DR RefSeq; NP_001276091.1; NM_001289162.1. [Q8IY82-1]
DR RefSeq; NP_001276092.1; NM_001289163.1. [Q8IY82-2]
DR RefSeq; NP_115645.4; NM_032269.5. [Q8IY82-1]
DR RefSeq; XP_011521680.1; XM_011523378.1. [Q8IY82-2]
DR AlphaFoldDB; Q8IY82; -.
DR SMR; Q8IY82; -.
DR BioGRID; 123962; 4.
DR IntAct; Q8IY82; 6.
DR STRING; 9606.ENSP00000353942; -.
DR iPTMnet; Q8IY82; -.
DR PhosphoSitePlus; Q8IY82; -.
DR BioMuta; DRC7; -.
DR DMDM; 317373462; -.
DR MassIVE; Q8IY82; -.
DR PaxDb; Q8IY82; -.
DR PeptideAtlas; Q8IY82; -.
DR PRIDE; Q8IY82; -.
DR ProteomicsDB; 71122; -. [Q8IY82-1]
DR ProteomicsDB; 71123; -. [Q8IY82-2]
DR Antibodypedia; 49050; 82 antibodies from 13 providers.
DR DNASU; 84229; -.
DR Ensembl; ENST00000336825.12; ENSP00000338938.8; ENSG00000159625.15. [Q8IY82-2]
DR Ensembl; ENST00000360716.8; ENSP00000353942.3; ENSG00000159625.15. [Q8IY82-1]
DR Ensembl; ENST00000394337.8; ENSP00000377869.4; ENSG00000159625.15. [Q8IY82-1]
DR GeneID; 84229; -.
DR KEGG; hsa:84229; -.
DR MANE-Select; ENST00000360716.8; ENSP00000353942.3; NM_001289162.2; NP_001276091.1.
DR UCSC; uc002emi.4; human. [Q8IY82-1]
DR CTD; 84229; -.
DR GeneCards; DRC7; -.
DR HGNC; HGNC:25289; DRC7.
DR HPA; ENSG00000159625; Tissue enhanced (fallopian tube, testis).
DR MIM; 618769; gene.
DR neXtProt; NX_Q8IY82; -.
DR OpenTargets; ENSG00000159625; -.
DR PharmGKB; PA162381380; -.
DR VEuPathDB; HostDB:ENSG00000159625; -.
DR eggNOG; ENOG502QRNZ; Eukaryota.
DR GeneTree; ENSGT00390000004913; -.
DR HOGENOM; CLU_016052_0_0_1; -.
DR InParanoid; Q8IY82; -.
DR OMA; SETMFRI; -.
DR OrthoDB; 535554at2759; -.
DR PhylomeDB; Q8IY82; -.
DR TreeFam; TF323665; -.
DR PathwayCommons; Q8IY82; -.
DR SignaLink; Q8IY82; -.
DR BioGRID-ORCS; 84229; 10 hits in 1070 CRISPR screens.
DR ChiTaRS; DRC7; human.
DR GeneWiki; Coiled-coil_domain-containing_protein_135; -.
DR GenomeRNAi; 84229; -.
DR Pharos; Q8IY82; Tdark.
DR PRO; PR:Q8IY82; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8IY82; protein.
DR Bgee; ENSG00000159625; Expressed in right uterine tube and 115 other tissues.
DR ExpressionAtlas; Q8IY82; baseline and differential.
DR Genevisible; Q8IY82; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0048870; P:cell motility; IBA:GO_Central.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR033551; DRC7/lobo.
DR InterPro; IPR038765; Papain-like_cys_pep_sf.
DR PANTHER; PTHR35249; PTHR35249; 1.
DR SUPFAM; SSF54001; SSF54001; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Differentiation; Flagellum; Reference proteome;
KW Spermatogenesis.
FT CHAIN 1..874
FT /note="Dynein regulatory complex subunit 7"
FT /id="PRO_0000279434"
FT REGION 386..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1..67
FT /evidence="ECO:0000255"
FT COILED 257..297
FT /evidence="ECO:0000255"
FT COILED 688..711
FT /evidence="ECO:0000255"
FT COILED 781..807
FT /evidence="ECO:0000255"
FT COMPBIAS 389..403
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 169..233
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023438"
FT VARIANT 51
FT /note="D -> N (in dbSNP:rs55645458)"
FT /id="VAR_061580"
FT VARIANT 120
FT /note="L -> M (in dbSNP:rs11649000)"
FT /id="VAR_050738"
FT VARIANT 186
FT /note="C -> S (in dbSNP:rs7196016)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030898"
FT VARIANT 241
FT /note="V -> E (in dbSNP:rs58373934)"
FT /id="VAR_061581"
FT VARIANT 433
FT /note="P -> L (in dbSNP:rs3809611)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030899"
FT VARIANT 521
FT /note="P -> H (in dbSNP:rs17853687)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055286"
FT VARIANT 581
FT /note="N -> K (in dbSNP:rs2923144)"
FT /id="VAR_030900"
FT VARIANT 766
FT /note="C -> R (in dbSNP:rs2923147)"
FT /evidence="ECO:0000269|PubMed:11230166"
FT /id="VAR_030901"
FT CONFLICT 440
FT /note="Q -> R (in Ref. 1; BAC04026)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 874 AA; 103497 MW; 14838304EFD10EC5 CRC64;
MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR DLEKKLSEIQ
ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN FSRQYSHLCP DRVPLFLHPL
NECEVPKFVS TTLRPTLMPY PELYNWDSCA QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK
YQKGNCFDFS TLLCSMLIGS GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK
VLPKKYTIKP PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR
VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN MQDCWNCCKD
LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE NLGKEDEDKS FDMPHSWVEQ
IEISPEAFET RCPNGKKVIQ YKRAKLEKWA PYLNSNGLVS RLTTYEDLQC TNILEIKEWY
QNREDMLELK HINKTTDLKT DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK
REETPRTMTE YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA
EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT PDMCISFEVE
PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL KLREEEEAAH TLTISIYDTK
RNEKSKEYRE AMERMMHEEH LRQVETQLDY LAPFLAQLPP GEKLTCWQAV RLKDECLSDF
KQRLINKANL IQARFEKETQ ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ
RLNRHKELAP LKYLALEEKL YKDPRLGELQ KIFA
