DNAI4_HUMAN
ID DNAI4_HUMAN Reviewed; 848 AA.
AC Q5VTH9; A8K9W5; B5MDT3; H7BY80; Q5VTI0; Q8N5G5; Q9H5R9; Q9UF44;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Dynein axonemal intermediate chain 4 {ECO:0000305};
DE AltName: Full=WD repeat-containing protein 78;
GN Name=DNAI4 {ECO:0000312|HGNC:HGNC:26252}; Synonyms=WDR78;
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 3).
RC TISSUE=Lung, and 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-545 (ISOFORM 2), AND VARIANT
RP ALA-16.
RC TISSUE=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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 517-848 (ISOFORM 1), AND VARIANT
RP GLN-832.
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).
CC -!- FUNCTION: Plays a critical role in the assembly of axonemal dynein
CC complex, thereby playing a role in ciliary motility.
CC {ECO:0000250|UniProtKB:E9PYY5}.
CC -!- SUBUNIT: Part of the multisubunit axonemal dynein complex formed at
CC least of two heavy chains and a number of intermediate and light
CC chains. Associated with axonemal dynein subunits such as, DNAH2, DNAI3,
CC and DYNLT1. Interacts with DYNLT1. {ECO:0000250|UniProtKB:E9PYY5}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000250|UniProtKB:E9PYY5}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:E9PYY5}. Dynein axonemal particle
CC {ECO:0000250|UniProtKB:Q6GPB9}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VTH9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VTH9-2; Sequence=VSP_021816, VSP_021817;
CC Name=3;
CC IsoId=Q5VTH9-3; Sequence=VSP_021812, VSP_021815;
CC -!- SEQUENCE CAUTION: [Isoform 3]:
CC Sequence=BAB15551.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK026782; BAB15551.1; ALT_FRAME; mRNA.
DR EMBL; AK292830; BAF85519.1; -; mRNA.
DR EMBL; AL139216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354978; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL592161; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032406; AAH32406.2; -; mRNA.
DR EMBL; AL133617; CAB63744.3; -; mRNA.
DR CCDS; CCDS44157.1; -. [Q5VTH9-2]
DR CCDS; CCDS635.1; -. [Q5VTH9-1]
DR PIR; T43473; T43473.
DR RefSeq; NP_079039.4; NM_024763.4. [Q5VTH9-1]
DR RefSeq; NP_996897.2; NM_207014.2. [Q5VTH9-2]
DR AlphaFoldDB; Q5VTH9; -.
DR SMR; Q5VTH9; -.
DR BioGRID; 122914; 2.
DR IntAct; Q5VTH9; 1.
DR STRING; 9606.ENSP00000360065; -.
DR iPTMnet; Q5VTH9; -.
DR PhosphoSitePlus; Q5VTH9; -.
DR BioMuta; WDR78; -.
DR DMDM; 74756797; -.
DR EPD; Q5VTH9; -.
DR MassIVE; Q5VTH9; -.
DR PaxDb; Q5VTH9; -.
DR PeptideAtlas; Q5VTH9; -.
DR PRIDE; Q5VTH9; -.
DR ProteomicsDB; 43534; -.
DR ProteomicsDB; 65329; -. [Q5VTH9-1]
DR ProteomicsDB; 65330; -. [Q5VTH9-2]
DR ProteomicsDB; 65331; -. [Q5VTH9-3]
DR Antibodypedia; 51698; 17 antibodies from 8 providers.
DR DNASU; 79819; -.
DR Ensembl; ENST00000371023.7; ENSP00000360062.3; ENSG00000152763.17. [Q5VTH9-2]
DR Ensembl; ENST00000371026.8; ENSP00000360065.3; ENSG00000152763.17. [Q5VTH9-1]
DR GeneID; 79819; -.
DR KEGG; hsa:79819; -.
DR MANE-Select; ENST00000371026.8; ENSP00000360065.3; NM_024763.5; NP_079039.4.
DR UCSC; uc001dcx.5; human. [Q5VTH9-1]
DR CTD; 79819; -.
DR DisGeNET; 79819; -.
DR GeneCards; DNAI4; -.
DR HGNC; HGNC:26252; DNAI4.
DR HPA; ENSG00000152763; Tissue enhanced (fallopian tube, testis).
DR MIM; 619156; gene.
DR neXtProt; NX_Q5VTH9; -.
DR OpenTargets; ENSG00000152763; -.
DR VEuPathDB; HostDB:ENSG00000152763; -.
DR eggNOG; KOG0263; Eukaryota.
DR GeneTree; ENSGT00940000156209; -.
DR HOGENOM; CLU_015820_3_0_1; -.
DR InParanoid; Q5VTH9; -.
DR OMA; WRYRDFR; -.
DR PhylomeDB; Q5VTH9; -.
DR TreeFam; TF300553; -.
DR PathwayCommons; Q5VTH9; -.
DR SignaLink; Q5VTH9; -.
DR BioGRID-ORCS; 79819; 12 hits in 1069 CRISPR screens.
DR ChiTaRS; WDR78; human.
DR GenomeRNAi; 79819; -.
DR Pharos; Q5VTH9; Tdark.
DR PRO; PR:Q5VTH9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VTH9; protein.
DR Bgee; ENSG00000152763; Expressed in bronchial epithelial cell and 123 other tissues.
DR ExpressionAtlas; Q5VTH9; baseline and differential.
DR Genevisible; Q5VTH9; HS.
DR GO; GO:0005858; C:axonemal dynein complex; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0045504; F:dynein heavy chain binding; IBA:GO_Central.
DR GO; GO:0045503; F:dynein light chain binding; IBA:GO_Central.
DR GO; GO:0070286; P:axonemal dynein complex assembly; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 5.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Flagellum; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..848
FT /note="Dynein axonemal intermediate chain 4"
FT /id="PRO_0000262773"
FT REPEAT 534..574
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 583..631
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 658..698
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 702..742
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 745..784
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 790..829
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REGION 345..370
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 431..464
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 431..452
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..254
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021812"
FT VAR_SEQ 528..545
FT /note="WPERIYQSPYGVTAVDFS -> VTQTRIRSIFIWLLTKFS (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021816"
FT VAR_SEQ 546..848
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021817"
FT VAR_SEQ 672..704
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021815"
FT VARIANT 16
FT /note="G -> A (in dbSNP:rs1886686)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_057635"
FT VARIANT 33
FT /note="C -> W (in dbSNP:rs3008858)"
FT /id="VAR_057636"
FT VARIANT 832
FT /note="R -> Q (in dbSNP:rs482082)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_057637"
SQ SEQUENCE 848 AA; 94573 MW; ED3E0BA7272E67AE CRC64;
MTPGKHSGAS ARAANGGAWG YRDFRGGQKK GWCTTPQLVA TMPVSPAGSH KQQNFGLNNA
TQPKKSISFF ATMKATSVKG YTGANQSRMA VSKTVLIPPE LKTVEKPNPN IKTTQVFDIN
GTDVTPRPLY HPDPLTGTAK PSKLLTSQEG SLGSEFISSY SLYQNTINPS TLGQFTRSVL
GSSTVSKSSV SASESIAEDL EEPSYKRERL TSFTDLQVIR AAPEKIVTKE DLEKNIEIIL
TETETLRFFD LPTVMVSVES EEAEKVTQRN KNYEVLCRNR LGNDLYVERM MQTFNGAPKN
KDVQCDKIIM EDKGIMSTAW DLYDSYNAME LVSLSVKQSV VESSSKANVL PKDQDQRLPG
STTEKNSETS SLMDIENVIL AKIHEDEEDH SDAILKSDKF HQDLFFMERV LMENIFQPKL
AAYRQLPVLK EPEPEEPEDV LESAKHEEVE EESKKEEEEE IHAEESTIPA NLERLWSFSC
DLTKGLNVSS LAWNKTNPDL LAVGYGHFGF KEQKRGLACC WSIKNPMWPE RIYQSPYGVT
AVDFSIGAPN LLAVGYHNGT IAIYNVRSNS NVPVLDSSES PQKHLGPVWQ LQWIEQDRGT
TGDGKREILV SISADGRISK WVIRKGLDCY DLMRLKRTTA ASNKKGGEKE KKDEALISRQ
APGMCFAFHP KDTNIYLAGT EEGHIHKCSC SYNEQYLDTY RGHKGPVYKV TWNPFCHDVF
LSCSADWGVI IWQQENVKPS LSFYPATSVV YDVAWSPKSS YIFAAANENR VEIWDLHIST
LDPLIVNTAN PGIKFTTILF AKQTDCLLVG DSDGQVSVYE LRNMPTVLET GRGDIMDTLL
GSKSNQSA
