DRC1_HUMAN
ID DRC1_HUMAN Reviewed; 740 AA.
AC Q96MC2; A8K1N8; Q53R91; Q53TA3; Q8NDI5;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Dynein regulatory complex protein 1;
DE AltName: Full=Coiled-coil domain-containing protein 164;
GN Name=DRC1; Synonyms=C2orf39, CCDC164;
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], AND VARIANT ARG-399.
RC TISSUE=Hippocampus, and 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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 64-740, AND VARIANTS GLU-357 AND
RP ARG-399.
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).
RN [4]
RP FUNCTION, AND INVOLVEMENT IN CILD21.
RX PubMed=23354437; DOI=10.1038/ng.2533;
RA Wirschell M., Olbrich H., Werner C., Tritschler D., Bower R., Sale W.S.,
RA Loges N.T., Pennekamp P., Lindberg S., Stenram U., Carlen B., Horak E.,
RA Kohler G., Nurnberg P., Nurnberg G., Porter M.E., Omran H.;
RT "The nexin-dynein regulatory complex subunit DRC1 is essential for motile
RT cilia function in algae and humans.";
RL Nat. Genet. 45:262-268(2013).
RN [5]
RP INVOLVEMENT IN CILD21.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
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). Plays a critical role in
CC the assembly of N-DRC and also stabilizes the assembly of multiple
CC inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to
CC form a central scaffold needed for assembly of the N-DRC and its
CC attachment to the outer doublet microtubules (PubMed:23354437).
CC {ECO:0000250|UniProtKB:P0DL09, ECO:0000269|PubMed:23354437}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC {ECO:0000250|UniProtKB:P0DL09}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:P0DL09}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:P0DL09}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 21 (CILD21) [MIM:615294]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia. Patients may
CC exhibit randomization of left-right body asymmetry and situs inversus,
CC due to dysfunction of monocilia at the embryonic node. Primary ciliary
CC dyskinesia associated with situs inversus is referred to as Kartagener
CC syndrome. {ECO:0000269|PubMed:23354437, ECO:0000269|PubMed:25186273}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the DRC1 family. {ECO:0000305}.
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DR EMBL; AK057222; BAB71385.1; -; mRNA.
DR EMBL; AK289953; BAF82642.1; -; mRNA.
DR EMBL; AC010896; AAY14647.1; -; Genomic_DNA.
DR EMBL; AC093378; AAY15082.1; -; Genomic_DNA.
DR EMBL; AL833892; CAD38748.1; -; mRNA.
DR CCDS; CCDS1723.1; -.
DR RefSeq; NP_659475.2; NM_145038.4.
DR AlphaFoldDB; Q96MC2; -.
DR SMR; Q96MC2; -.
DR BioGRID; 124976; 7.
DR IntAct; Q96MC2; 3.
DR STRING; 9606.ENSP00000288710; -.
DR GlyGen; Q96MC2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96MC2; -.
DR PhosphoSitePlus; Q96MC2; -.
DR BioMuta; DRC1; -.
DR DMDM; 126215680; -.
DR MassIVE; Q96MC2; -.
DR PaxDb; Q96MC2; -.
DR PeptideAtlas; Q96MC2; -.
DR PRIDE; Q96MC2; -.
DR ProteomicsDB; 77330; -.
DR Antibodypedia; 55104; 32 antibodies from 4 providers.
DR DNASU; 92749; -.
DR Ensembl; ENST00000288710.7; ENSP00000288710.2; ENSG00000157856.12.
DR GeneID; 92749; -.
DR KEGG; hsa:92749; -.
DR MANE-Select; ENST00000288710.7; ENSP00000288710.2; NM_145038.5; NP_659475.2.
DR UCSC; uc002rhg.2; human.
DR CTD; 92749; -.
DR DisGeNET; 92749; -.
DR GeneCards; DRC1; -.
DR GeneReviews; DRC1; -.
DR HGNC; HGNC:24245; DRC1.
DR HPA; ENSG00000157856; Tissue enhanced (fallopian tube, testis).
DR MalaCards; DRC1; -.
DR MIM; 615288; gene.
DR MIM; 615294; phenotype.
DR neXtProt; NX_Q96MC2; -.
DR OpenTargets; ENSG00000157856; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA145149775; -.
DR VEuPathDB; HostDB:ENSG00000157856; -.
DR eggNOG; ENOG502QQ2B; Eukaryota.
DR GeneTree; ENSGT00940000153804; -.
DR HOGENOM; CLU_012489_1_0_1; -.
DR InParanoid; Q96MC2; -.
DR OMA; LEKSECY; -.
DR OrthoDB; 258073at2759; -.
DR PhylomeDB; Q96MC2; -.
DR TreeFam; TF324985; -.
DR PathwayCommons; Q96MC2; -.
DR SignaLink; Q96MC2; -.
DR BioGRID-ORCS; 92749; 15 hits in 1060 CRISPR screens.
DR ChiTaRS; DRC1; human.
DR GenomeRNAi; 92749; -.
DR Pharos; Q96MC2; Tbio.
DR PRO; PR:Q96MC2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96MC2; protein.
DR Bgee; ENSG00000157856; Expressed in right uterine tube and 104 other tissues.
DR ExpressionAtlas; Q96MC2; baseline and differential.
DR Genevisible; Q96MC2; HS.
DR GO; GO:0005858; C:axonemal dynein complex; IEA:InterPro.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:UniProtKB.
DR GO; GO:0060285; P:cilium-dependent cell motility; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0003352; P:regulation of cilium movement; IBA:GO_Central.
DR InterPro; IPR039505; DRC1/2_N.
DR InterPro; IPR039750; DRC1/DRC2.
DR InterPro; IPR029440; DRC1_C.
DR PANTHER; PTHR21625; PTHR21625; 1.
DR Pfam; PF14772; NYD-SP28; 1.
DR Pfam; PF14775; NYD-SP28_assoc; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Ciliopathy; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW Flagellum; Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1..740
FT /note="Dynein regulatory complex protein 1"
FT /id="PRO_0000277881"
FT REGION 570..617
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 101..388
FT /evidence="ECO:0000255"
FT COILED 691..724
FT /evidence="ECO:0000255"
FT COMPBIAS 578..601
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 357
FT /note="K -> E (in dbSNP:rs3795958)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_030625"
FT VARIANT 399
FT /note="W -> R (in dbSNP:rs939820)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_030626"
FT VARIANT 633
FT /note="V -> F (in dbSNP:rs12623642)"
FT /id="VAR_030627"
FT VARIANT 702
FT /note="S -> I (in dbSNP:rs3172008)"
FT /id="VAR_030628"
FT VARIANT 734
FT /note="V -> M (in dbSNP:rs35313480)"
FT /id="VAR_057758"
FT CONFLICT 342
FT /note="N -> D (in Ref. 1; BAF82642)"
FT /evidence="ECO:0000305"
FT CONFLICT 716
FT /note="Q -> P (in Ref. 1; BAF82642)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 740 AA; 87134 MW; 3CBF68B32B441C22 CRC64;
MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD
GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI
EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ
ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN
KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ
QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK
QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD
RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY
LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE
DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE
SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE
YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN
SKINSELQVP PTQVLRVPTK
