DAW1_HUMAN
ID DAW1_HUMAN Reviewed; 415 AA.
AC Q8N136; Q6ZRY1; Q8N776;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Dynein assembly factor with WDR repeat domains 1;
DE AltName: Full=Outer row dynein assembly protein 16 homolog;
DE AltName: Full=WD repeat-containing protein 69;
GN Name=DAW1; Synonyms=WDR69;
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), AND VARIANT
RP SER-121.
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=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] (ISOFORM 1).
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 INTERACTION WITH IFT46.
RX PubMed=18852297; DOI=10.1083/jcb.200802025;
RA Ahmed N.T., Gao C., Lucker B.F., Cole D.G., Mitchell D.R.;
RT "ODA16 aids axonemal outer row dynein assembly through an interaction with
RT the intraflagellar transport machinery.";
RL J. Cell Biol. 183:313-322(2008).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] MET-129.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May play a role in axonemal outer row dynein assembly.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with IFT46. {ECO:0000269|PubMed:18852297}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N136-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N136-2; Sequence=VSP_019460, VSP_019461;
CC -!- SIMILARITY: Belongs to the WD repeat WDR69 family. {ECO:0000305}.
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DR EMBL; AK097409; BAC05039.1; -; mRNA.
DR EMBL; AK098821; BAC05425.1; -; mRNA.
DR EMBL; AK127882; BAC87175.1; -; mRNA.
DR EMBL; AC073065; AAX93215.1; -; Genomic_DNA.
DR EMBL; BC036377; AAH36377.1; -; mRNA.
DR CCDS; CCDS2470.1; -. [Q8N136-1]
DR RefSeq; NP_001316933.1; NM_001330004.1.
DR RefSeq; NP_849143.1; NM_178821.2. [Q8N136-1]
DR PDB; 5NNZ; X-ray; 2.65 A; A/B=1-415.
DR PDBsum; 5NNZ; -.
DR AlphaFoldDB; Q8N136; -.
DR SMR; Q8N136; -.
DR BioGRID; 127902; 10.
DR IntAct; Q8N136; 4.
DR MINT; Q8N136; -.
DR STRING; 9606.ENSP00000311899; -.
DR iPTMnet; Q8N136; -.
DR PhosphoSitePlus; Q8N136; -.
DR BioMuta; DAW1; -.
DR DMDM; 74759762; -.
DR MassIVE; Q8N136; -.
DR PaxDb; Q8N136; -.
DR PeptideAtlas; Q8N136; -.
DR PRIDE; Q8N136; -.
DR ProteomicsDB; 71536; -. [Q8N136-1]
DR ProteomicsDB; 71537; -. [Q8N136-2]
DR Antibodypedia; 49828; 16 antibodies from 8 providers.
DR DNASU; 164781; -.
DR Ensembl; ENST00000309931.3; ENSP00000311899.2; ENSG00000123977.10. [Q8N136-1]
DR GeneID; 164781; -.
DR KEGG; hsa:164781; -.
DR MANE-Select; ENST00000309931.3; ENSP00000311899.2; NM_178821.3; NP_849143.1.
DR UCSC; uc002vpn.2; human. [Q8N136-1]
DR CTD; 164781; -.
DR DisGeNET; 164781; -.
DR GeneCards; DAW1; -.
DR HGNC; HGNC:26383; DAW1.
DR HPA; ENSG00000123977; Tissue enhanced (choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q8N136; -.
DR OpenTargets; ENSG00000123977; -.
DR PharmGKB; PA142670602; -.
DR VEuPathDB; HostDB:ENSG00000123977; -.
DR eggNOG; KOG0272; Eukaryota.
DR GeneTree; ENSGT00940000162537; -.
DR HOGENOM; CLU_000288_57_33_1; -.
DR InParanoid; Q8N136; -.
DR OMA; TGQCSQV; -.
DR PhylomeDB; Q8N136; -.
DR TreeFam; TF323481; -.
DR PathwayCommons; Q8N136; -.
DR SignaLink; Q8N136; -.
DR BioGRID-ORCS; 164781; 7 hits in 1066 CRISPR screens.
DR ChiTaRS; DAW1; human.
DR GenomeRNAi; 164781; -.
DR Pharos; Q8N136; Tdark.
DR PRO; PR:Q8N136; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N136; protein.
DR Bgee; ENSG00000123977; Expressed in secondary oocyte and 93 other tissues.
DR ExpressionAtlas; Q8N136; baseline and differential.
DR Genevisible; Q8N136; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0019005; C:SCF ubiquitin ligase complex; IBA:GO_Central.
DR GO; GO:1990756; F:ubiquitin ligase-substrate adaptor activity; IBA:GO_Central.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0007368; P:determination of left/right symmetry; IEA:Ensembl.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0036158; P:outer dynein arm assembly; IEA:Ensembl.
DR GO; GO:0000209; P:protein polyubiquitination; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 4.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 8.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 4.
DR PROSITE; PS50082; WD_REPEATS_2; 8.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell projection; Cilium;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..415
FT /note="Dynein assembly factor with WDR repeat domains 1"
FT /id="PRO_0000242654"
FT REPEAT 90..129
FT /note="WD 1"
FT REPEAT 132..174
FT /note="WD 2"
FT REPEAT 175..214
FT /note="WD 3"
FT REPEAT 217..256
FT /note="WD 4"
FT REPEAT 259..298
FT /note="WD 5"
FT REPEAT 301..340
FT /note="WD 6"
FT REPEAT 343..384
FT /note="WD 7"
FT REPEAT 386..415
FT /note="WD 8"
FT VAR_SEQ 325..369
FT /note="GTARIFSAATRKCIAKLEGHEGEISKISFNPQGNHLLTGSSDKTA -> DGV
FT SLCRPGRSAVARSWLTATCASQVQAILLPQPPELCHVLGNHV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019460"
FT VAR_SEQ 370..415
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019461"
FT VARIANT 27
FT /note="T -> I (in dbSNP:rs11894733)"
FT /id="VAR_026853"
FT VARIANT 121
FT /note="T -> S (in dbSNP:rs1715828)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_026854"
FT VARIANT 129
FT /note="T -> M (in a breast cancer sample; somatic mutation;
FT dbSNP:rs113776284)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035891"
FT VARIANT 259
FT /note="G -> S (in dbSNP:rs35027781)"
FT /id="VAR_033811"
FT VARIANT 317
FT /note="L -> F (in dbSNP:rs35395984)"
FT /id="VAR_033812"
FT CONFLICT 408
FT /note="D -> G (in Ref. 1; BAC05425)"
FT /evidence="ECO:0000305"
FT STRAND 83..89
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 95..100
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 104..111
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 116..120
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 121..123
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 126..130
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 137..142
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 144..146
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 149..154
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 159..167
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 169..173
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 180..185
FT /evidence="ECO:0007829|PDB:5NNZ"
FT HELIX 187..189
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 191..196
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 199..208
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 211..216
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 222..227
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 233..238
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 243..247
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 248..250
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 252..257
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 264..269
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 274..283
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 285..289
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 290..292
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 295..299
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 306..311
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 313..315
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 317..322
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 327..331
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 332..334
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 337..341
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 348..353
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 357..364
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 369..373
FT /evidence="ECO:0007829|PDB:5NNZ"
FT TURN 374..376
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 379..383
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 390..395
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 402..406
FT /evidence="ECO:0007829|PDB:5NNZ"
FT STRAND 409..415
FT /evidence="ECO:0007829|PDB:5NNZ"
SQ SEQUENCE 415 AA; 45777 MW; 457B11B1DAD4E321 CRC64;
MKLKSLLLRY YPPGIMLEYE KHGELKTKSI DLLDLGPSTD VSALVEEIQK AEPLLTASRT
EQVKLLIQRL QEKLGQNSNH TFYLFKVLKA HILPLTNVAL NKSGSCFITG SYDRTCKLWD
TASGEELNTL EGHRNVVYAI AFNNPYGDKI ATGSFDKTCK LWSVETGKCY HTFRGHTAEI
VCLSFNPQST LVATGSMDTT AKLWDIQNGE EVYTLRGHSA EIISLSFNTS GDRIITGSFD
HTVVVWDADT GRKVNILIGH CAEISSASFN WDCSLILTGS MDKTCKLWDA TNGKCVATLT
GHDDEILDSC FDYTGKLIAT ASADGTARIF SAATRKCIAK LEGHEGEISK ISFNPQGNHL
LTGSSDKTAR IWDAQTGQCL QVLEGHTDEI FSCAFNYKGN IVITGSKDNT CRIWR
