DRC11_HUMAN
ID DRC11_HUMAN Reviewed; 822 AA.
AC Q86XH1; B4DFH9; E7EWQ0; Q4G164; Q53R37; Q53RV3; Q96NS7; Q9H680;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Dynein regulatory complex protein 11 {ECO:0000250|UniProtKB:A8IHT2};
DE AltName: Full=IQ and AAA domain-containing protein 1;
GN Name=IQCA1; Synonyms=DRC11 {ECO:0000250|UniProtKB:A8IHT2}, IQCA;
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 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-516 (ISOFORM 2), AND NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 473-822 (ISOFORM 1).
RC TISSUE=Brain cortex, and Cerebellum;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, 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).
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:A8IHT2}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC {ECO:0000250|UniProtKB:A8IHT2}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000250|UniProtKB:A8IHT2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86XH1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86XH1-2; Sequence=VSP_024327, VSP_024330, VSP_024331;
CC Name=3;
CC IsoId=Q86XH1-5; Sequence=VSP_047012;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the AAA ATPase family. DRC11 subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15384.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB15384.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
CC Sequence=BAB70798.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
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DR EMBL; AK026180; BAB15384.1; ALT_SEQ; mRNA.
DR EMBL; AK054711; BAB70798.1; ALT_SEQ; mRNA.
DR EMBL; AK294105; BAG57440.1; -; mRNA.
DR EMBL; AC019068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC079611; AAX93085.1; -; Genomic_DNA.
DR EMBL; AC093915; AAY24064.1; -; Genomic_DNA.
DR EMBL; BC028699; AAH28699.1; -; mRNA.
DR EMBL; BC043504; AAH43504.1; -; mRNA.
DR CCDS; CCDS46549.1; -. [Q86XH1-1]
DR CCDS; CCDS59441.1; -. [Q86XH1-5]
DR RefSeq; NP_001257513.1; NM_001270584.1. [Q86XH1-5]
DR RefSeq; NP_001257514.1; NM_001270585.1.
DR RefSeq; NP_079002.3; NM_024726.4. [Q86XH1-1]
DR AlphaFoldDB; Q86XH1; -.
DR SMR; Q86XH1; -.
DR BioGRID; 122881; 5.
DR STRING; 9606.ENSP00000407213; -.
DR iPTMnet; Q86XH1; -.
DR PhosphoSitePlus; Q86XH1; -.
DR BioMuta; IQCA1; -.
DR DMDM; 74727830; -.
DR EPD; Q86XH1; -.
DR jPOST; Q86XH1; -.
DR MassIVE; Q86XH1; -.
DR PaxDb; Q86XH1; -.
DR PeptideAtlas; Q86XH1; -.
DR PRIDE; Q86XH1; -.
DR ProteomicsDB; 18891; -.
DR ProteomicsDB; 70276; -. [Q86XH1-1]
DR ProteomicsDB; 70277; -. [Q86XH1-2]
DR Antibodypedia; 34467; 87 antibodies from 15 providers.
DR DNASU; 79781; -.
DR Ensembl; ENST00000254653.9; ENSP00000254653.5; ENSG00000132321.17. [Q86XH1-2]
DR Ensembl; ENST00000309507.9; ENSP00000311951.6; ENSG00000132321.17. [Q86XH1-5]
DR Ensembl; ENST00000409907.8; ENSP00000387347.3; ENSG00000132321.17. [Q86XH1-1]
DR GeneID; 79781; -.
DR KEGG; hsa:79781; -.
DR MANE-Select; ENST00000409907.8; ENSP00000387347.3; NM_024726.5; NP_079002.3.
DR UCSC; uc002vvz.3; human. [Q86XH1-1]
DR CTD; 79781; -.
DR GeneCards; IQCA1; -.
DR HGNC; HGNC:26195; IQCA1.
DR HPA; ENSG00000132321; Tissue enhanced (brain, choroid plexus, thyroid gland).
DR neXtProt; NX_Q86XH1; -.
DR OpenTargets; ENSG00000132321; -.
DR PharmGKB; PA162392257; -.
DR VEuPathDB; HostDB:ENSG00000132321; -.
DR eggNOG; ENOG502QTPP; Eukaryota.
DR GeneTree; ENSGT00940000154067; -.
DR HOGENOM; CLU_005923_0_0_1; -.
DR InParanoid; Q86XH1; -.
DR OrthoDB; 127946at2759; -.
DR PhylomeDB; Q86XH1; -.
DR TreeFam; TF324350; -.
DR PathwayCommons; Q86XH1; -.
DR SignaLink; Q86XH1; -.
DR BioGRID-ORCS; 79781; 12 hits in 1060 CRISPR screens.
DR GenomeRNAi; 79781; -.
DR Pharos; Q86XH1; Tdark.
DR PRO; PR:Q86XH1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86XH1; protein.
DR Bgee; ENSG00000132321; Expressed in sperm and 146 other tissues.
DR ExpressionAtlas; Q86XH1; baseline and differential.
DR Genevisible; Q86XH1; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR003959; ATPase_AAA_core.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00004; AAA; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50096; IQ; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Cell projection; Cilium; Cytoplasm;
KW Cytoskeleton; Flagellum; Nucleotide-binding; Reference proteome.
FT CHAIN 1..822
FT /note="Dynein regulatory complex protein 11"
FT /id="PRO_0000283572"
FT DOMAIN 207..236
FT /note="IQ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 349..384
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 459..487
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 356..372
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 466..482
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 575..582
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 338..378
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047012"
FT VAR_SEQ 470
FT /note="D -> DK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024327"
FT VAR_SEQ 653..678
FT /note="NEPKRLKKHLPQILKLLKPDDRILIV -> FTPSAGEVAALQKNLKRSTSRM
FT NLNA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024330"
FT VAR_SEQ 679..822
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024331"
FT VARIANT 8
FT /note="K -> M (in dbSNP:rs35114730)"
FT /id="VAR_060983"
FT VARIANT 362
FT /note="Q -> R (in dbSNP:rs3754644)"
FT /id="VAR_060984"
FT VARIANT 452
FT /note="K -> R (in dbSNP:rs10204742)"
FT /id="VAR_031495"
FT CONFLICT 71
FT /note="L -> P (in Ref. 1; BAG57440)"
FT /evidence="ECO:0000305"
FT CONFLICT 199
FT /note="M -> I (in Ref. 1; BAB70798)"
FT /evidence="ECO:0000305"
FT CONFLICT 250
FT /note="S -> G (in Ref. 1; BAB70798)"
FT /evidence="ECO:0000305"
FT CONFLICT 816
FT /note="K -> R (in Ref. 1; BAB15384)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 822 AA; 95341 MW; 0318214614A39399 CRC64;
MSNAMYNKMW HQTQEALGAL LDKEPQKMIE PQRNQVFIFQ TLATFYVKYV QIFRNLENVY
DQFVHPQKRI LIRKVLDGVM GRILELKNEM VELELTEFHY FDDILQDLKL APQQLDIPIP
KYFLKEKLEV IKGREKILAQ ILADSGIDTS DMKYPVKSIP FDEAVKLIQI AERARQGRLR
ALFMKQIYLQ EYRAKQSKML GKKVTDTWAA ALRIQKVWRR FHQRKETEKL REEEMIFLGM
NPPPLFNEVS ATVIQAEKVD RLRNEVQIKH EEDYREALVT IKNDLKLIEG VDIKENLQDQ
IRHWFIECRN LTGTFPDYPD VEEGGSAIIF SDKTIQQVIE DIIANQEEEE KNKKKKKKKE
KQPKKAKKQK KGTKEKNKEE DEKWKMSPSL FLPAMKEGCN AYKEIWMKKD ESWNFSQDYD
PELIKEEKRK ELQSEIRIQV DELMRQELKN LKLAVDRERE RPVKAGKKKD KKGKKGKKKE
KKAKKDKDLT ADRTIESLYK ELVEEGLLIQ ALKVNLSDYI GEYSYLGTTL RQVSIEPMPS
LLDVRQLITL YGIWPLGSAA VHEKAPLVKS LLLAGPSGVG KKMLVHAICT ETGANLFNLS
SSNIAGKYPG KNGLQMMLHA VFKVARQLQP SVVWIEDTEK TFYKKVPNAE KMNEPKRLKK
HLPQILKLLK PDDRILIVGT TRRPFDAELQ SFCKVYQKII LVPRPDYASR YVLWKQIIER
NGGVLTSALN VSCLAKVTDG FTQGHIVEVV KGVLTDQRIR RQIHKPLTAV EFITAITSMN
PVYKEEEESF KNWYAKTPLG KKRALAITGG STEKAKDKGK RK
