DRC3_HUMAN
ID DRC3_HUMAN Reviewed; 523 AA.
AC Q9H069; A8KAE6; Q86SF9; Q86W73; Q8IWG0;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 25-OCT-2004, sequence version 2.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Dynein regulatory complex subunit 3;
DE AltName: Full=Leucine-rich repeat-containing protein 48;
GN Name=DRC3; Synonyms=LRRC48;
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] (ISOFORM 1).
RC TISSUE=Uterus;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Trachea;
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 MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP TRP-191.
RC TISSUE=Brain, Colon, and Lung;
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 SUBCELLULAR LOCATION.
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 SUBCELLULAR LOCATION.
RX PubMed=27120127; DOI=10.1002/humu.23005;
RA Jeanson L., Thomas L., Copin B., Coste A., Sermet-Gaudelus I.,
RA Dastot-Le Moal F., Duquesnoy P., Montantin G., Collot N., Tissier S.,
RA Papon J.F., Clement A., Louis B., Escudier E., Amselem S., Legendre M.;
RT "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex
RT subunit, cause primary ciliary dyskinesia with axonemal disorganization.";
RL Hum. Mutat. 37:776-785(2016).
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. {ECO:0000250|UniProtKB:A8IVX2}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC Interacts with TCTE1/DRC5 (By similarity). Interacts with DRC7 (By
CC similarity). {ECO:0000250|UniProtKB:A8IVX2,
CC ECO:0000250|UniProtKB:Q9D5E4}.
CC -!- INTERACTION:
CC Q9H069; P15622-3: ZNF250; NbExp=3; IntAct=EBI-13070008, EBI-10177272;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:23354437}. Cell projection, cilium
CC {ECO:0000269|PubMed:27120127}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:A8IVX2}. Cell projection, cilium,
CC flagellum {ECO:0000250|UniProtKB:Q9D5E4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H069-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H069-2; Sequence=VSP_017578, VSP_017579;
CC -!- SIMILARITY: Belongs to the DRC3 family. {ECO:0000305}.
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DR EMBL; AL136926; CAB66860.2; -; mRNA.
DR EMBL; AK293011; BAF85700.1; -; mRNA.
DR EMBL; BC040276; AAH40276.1; -; mRNA.
DR EMBL; BC047873; AAH47873.1; -; mRNA.
DR EMBL; BC050419; AAH50419.1; -; mRNA.
DR EMBL; BC050665; AAH50665.1; -; mRNA.
DR CCDS; CCDS45622.1; -. [Q9H069-1]
DR CCDS; CCDS45623.1; -. [Q9H069-2]
DR RefSeq; NP_001123562.1; NM_001130090.1. [Q9H069-1]
DR RefSeq; NP_001123563.1; NM_001130091.1. [Q9H069-2]
DR RefSeq; NP_001123564.1; NM_001130092.1. [Q9H069-2]
DR RefSeq; NP_112584.3; NM_031294.3. [Q9H069-1]
DR AlphaFoldDB; Q9H069; -.
DR SMR; Q9H069; -.
DR BioGRID; 123652; 21.
DR IntAct; Q9H069; 2.
DR STRING; 9606.ENSP00000382140; -.
DR GlyGen; Q9H069; 1 site, 2 O-linked glycans (1 site).
DR iPTMnet; Q9H069; -.
DR PhosphoSitePlus; Q9H069; -.
DR BioMuta; DRC3; -.
DR DMDM; 74761374; -.
DR MassIVE; Q9H069; -.
DR PaxDb; Q9H069; -.
DR PeptideAtlas; Q9H069; -.
DR PRIDE; Q9H069; -.
DR ProteomicsDB; 80207; -. [Q9H069-1]
DR ProteomicsDB; 80208; -. [Q9H069-2]
DR Antibodypedia; 25546; 30 antibodies from 10 providers.
DR DNASU; 83450; -.
DR Ensembl; ENST00000313838.12; ENSP00000326870.8; ENSG00000171962.18. [Q9H069-1]
DR Ensembl; ENST00000399182.5; ENSP00000382136.1; ENSG00000171962.18. [Q9H069-2]
DR Ensembl; ENST00000399187.6; ENSP00000382140.1; ENSG00000171962.18. [Q9H069-1]
DR Ensembl; ENST00000584166.5; ENSP00000462661.1; ENSG00000171962.18. [Q9H069-2]
DR GeneID; 83450; -.
DR KEGG; hsa:83450; -.
DR MANE-Select; ENST00000399187.6; ENSP00000382140.1; NM_031294.4; NP_112584.3.
DR UCSC; uc032ewk.2; human. [Q9H069-1]
DR CTD; 83450; -.
DR DisGeNET; 83450; -.
DR GeneCards; DRC3; -.
DR HGNC; HGNC:25384; DRC3.
DR HPA; ENSG00000171962; Tissue enhanced (fallopian).
DR MIM; 618758; gene.
DR neXtProt; NX_Q9H069; -.
DR OpenTargets; ENSG00000171962; -.
DR PharmGKB; PA142671508; -.
DR VEuPathDB; HostDB:ENSG00000171962; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00940000159298; -.
DR HOGENOM; CLU_026827_0_0_1; -.
DR InParanoid; Q9H069; -.
DR OMA; NSFMEMM; -.
DR PhylomeDB; Q9H069; -.
DR TreeFam; TF323974; -.
DR PathwayCommons; Q9H069; -.
DR SignaLink; Q9H069; -.
DR BioGRID-ORCS; 83450; 11 hits in 1067 CRISPR screens.
DR ChiTaRS; DRC3; human.
DR GeneWiki; LRRC48; -.
DR GenomeRNAi; 83450; -.
DR Pharos; Q9H069; Tdark.
DR PRO; PR:Q9H069; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9H069; protein.
DR Bgee; ENSG00000171962; Expressed in right uterine tube and 120 other tissues.
DR ExpressionAtlas; Q9H069; baseline and differential.
DR Genevisible; Q9H069; HS.
DR GO; GO:0005930; C:axoneme; IDA:MGI.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR PROSITE; PS51450; LRR; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Flagellum; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..523
FT /note="Dynein regulatory complex subunit 3"
FT /id="PRO_0000227774"
FT REPEAT 44..65
FT /note="LRR 1"
FT REPEAT 66..87
FT /note="LRR 2"
FT REPEAT 88..109
FT /note="LRR 3"
FT REPEAT 110..131
FT /note="LRR 4"
FT REPEAT 132..153
FT /note="LRR 5"
FT DOMAIN 166..204
FT /note="LRRCT"
FT COILED 208..242
FT /evidence="ECO:0000255"
FT COILED 366..391
FT /evidence="ECO:0000255"
FT VAR_SEQ 443..457
FT /note="LFVDKDTIVNAVGAS -> GRFQKFNYVEASGTF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_017578"
FT VAR_SEQ 458..523
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_017579"
FT VARIANT 159
FT /note="R -> Q (in dbSNP:rs8072048)"
FT /id="VAR_051120"
FT VARIANT 191
FT /note="R -> W (in dbSNP:rs4584886)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_025625"
FT VARIANT 364
FT /note="A -> V (in dbSNP:rs11656629)"
FT /id="VAR_051121"
SQ SEQUENCE 523 AA; 61054 MW; B36DF1E42318D768 CRC64;
MNQPCNSMEP RVMDDDMLKL AVGDQGPQEE AGQLAKQEGI LFKDVLSLQL DFRNILRIDN
LWQFENLRKL QLDNNIIEKI EGLENLAHLV WLDLSFNNIE TIEGLDTLVN LEDLSLFNNR
ISKIDSLDAL VKLQVLSLGN NRIDNMMNII YLRRFKCLRT LSLSRNPISE AEDYKMFICA
YLPDLMYLDY RRIDDHTKKL AEAKHQYSID ELKHQENLMQ AQLEDEQAQR EELEKHKTAF
VEHLNGSFLF DSMYAEDSEG NNLSYLPGVG ELLETYKDKF VIICVNIFEY GLKQQEKRKT
ELDTFSECVR EAIQENQEQG KRKIAKFEEK HLSSLSAIRE ELELPNIEKM ILECSADISE
LFDALMTLEM QLVEQLEETI NMFERNIVDM VGLFIENVQS LMAQCRDLEN HHHEKLLEIS
ISTLEKIVEG DLDEDLPNDL RALFVDKDTI VNAVGASHDI HLLKIDNRED ELVTRINSWC
TRLIDRIHKD EIMRNRKRVK EINQYIDHMQ SELDNLECGD ILD
