DAAF4_MOUSE
ID DAAF4_MOUSE Reviewed; 420 AA.
AC Q8R368; G3X916;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2012, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Dynein axonemal assembly factor 4 {ECO:0000250|UniProtKB:Q8WXU2};
DE AltName: Full=Dyslexia susceptibility 1 candidate gene 1 protein homolog {ECO:0000250|UniProtKB:Q8WXU2};
GN Name=Dnaaf4 {ECO:0000250|UniProtKB:Q8WXU2}; Synonyms=Dyx1c1, Ekn1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH CCT3; CCT4; CCT5 AND
RP CCT8.
RX PubMed=23872636; DOI=10.1038/ng.2707;
RA Tarkar A., Loges N.T., Slagle C.E., Francis R., Dougherty G.W.,
RA Tamayo J.V., Shook B., Cantino M., Schwartz D., Jahnke C., Olbrich H.,
RA Werner C., Raidt J., Pennekamp P., Abouhamed M., Hjeij R., Kohler G.,
RA Griese M., Li Y., Lemke K., Klena N., Liu X., Gabriel G., Tobita K.,
RA Jaspers M., Morgan L.C., Shapiro A.J., Letteboer S.J., Mans D.A.,
RA Carson J.L., Leigh M.W., Wolf W.E., Chen S., Lucas J.S., Onoufriadis A.,
RA Plagnol V., Schmidts M., Boldt K., Roepman R., Zariwala M.A., Lo C.W.,
RA Mitchison H.M., Knowles M.R., Burdine R.D., Loturco J.J., Omran H.;
RT "DYX1C1 is required for axonemal dynein assembly and ciliary motility.";
RL Nat. Genet. 45:995-1003(2013).
CC -!- FUNCTION: Involved in neuronal migration during development of the
CC cerebral neocortex. May regulate the stability and proteasomal
CC degradation of the estrogen receptors that play an important role in
CC neuronal differentiation, survival and plasticity (By similarity).
CC Axonemal dynein assembly factor required for ciliary motility.
CC {ECO:0000250|UniProtKB:Q8WXU2, ECO:0000269|PubMed:23872636}.
CC -!- SUBUNIT: Interacts with ZMYND10 (By similarity). Interacts with ESR1
CC and ESR2. Interacts with STUB1 (By similarity). Interacts with DNAAF2
CC (By similarity). Interacts with CCT3, CCT4, CCT5 and CCT8
CC (PubMed:23872636). Interacts with DNAAF6/PIH1D3 (By similarity).
CC {ECO:0000250|UniProtKB:Q8WXU2, ECO:0000269|PubMed:23872636}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8WXU2}. Cytoplasm
CC {ECO:0000269|PubMed:23872636}. Dynein axonemal particle
CC {ECO:0000250|UniProtKB:Q6AZN0}. Cell projection, neuron projection
CC {ECO:0000250|UniProtKB:Q5VJS5}.
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DR EMBL; AC158997; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466522; EDL26272.1; -; Genomic_DNA.
DR EMBL; BC026462; AAH26462.1; -; mRNA.
DR CCDS; CCDS23333.1; -.
DR RefSeq; NP_080590.3; NM_026314.3.
DR AlphaFoldDB; Q8R368; -.
DR SMR; Q8R368; -.
DR BioGRID; 212366; 1.
DR STRING; 10090.ENSMUSP00000034734; -.
DR PhosphoSitePlus; Q8R368; -.
DR PaxDb; Q8R368; -.
DR PRIDE; Q8R368; -.
DR DNASU; 67685; -.
DR Ensembl; ENSMUST00000034734; ENSMUSP00000034734; ENSMUSG00000092192.
DR GeneID; 67685; -.
DR KEGG; mmu:67685; -.
DR UCSC; uc009qqj.2; mouse.
DR CTD; 161582; -.
DR MGI; MGI:1914935; Dnaaf4.
DR VEuPathDB; HostDB:ENSMUSG00000092192; -.
DR eggNOG; KOG1124; Eukaryota.
DR GeneTree; ENSGT00390000004930; -.
DR InParanoid; Q8R368; -.
DR OMA; PPYLFEV; -.
DR OrthoDB; 1485667at2759; -.
DR PhylomeDB; Q8R368; -.
DR TreeFam; TF328983; -.
DR BioGRID-ORCS; 67685; 1 hit in 74 CRISPR screens.
DR ChiTaRS; Dnaaf4; mouse.
DR PRO; PR:Q8R368; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q8R368; protein.
DR Bgee; ENSMUSG00000092192; Expressed in spermatocyte and 111 other tissues.
DR ExpressionAtlas; Q8R368; baseline and differential.
DR Genevisible; Q8R368; MM.
DR GO; GO:0005813; C:centrosome; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0043005; C:neuron projection; IEA:UniProtKB-SubCell.
DR GO; GO:0097730; C:non-motile cilium; ISO:MGI.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0030331; F:nuclear estrogen receptor binding; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:MGI.
DR GO; GO:0051649; P:establishment of localization in cell; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:MGI.
DR GO; GO:0036159; P:inner dynein arm assembly; IMP:UniProtKB.
DR GO; GO:0007611; P:learning or memory; IMP:MGI.
DR GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; IMP:UniProtKB.
DR GO; GO:0033146; P:regulation of intracellular estrogen receptor signaling pathway; ISS:UniProtKB.
DR GO; GO:0061136; P:regulation of proteasomal protein catabolic process; ISS:UniProtKB.
DR CDD; cd06469; p23_DYX1C1_like; 1.
DR Gene3D; 1.25.40.10; -; 1.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR007052; CS_dom.
DR InterPro; IPR037894; CS_DYX1C1.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF04969; CS; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS51203; CS; 1.
DR PROSITE; PS50005; TPR; 3.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cytoplasm; Neurogenesis; Nucleus; Reference proteome;
KW Repeat; TPR repeat.
FT CHAIN 1..420
FT /note="Dynein axonemal assembly factor 4"
FT /id="PRO_0000106285"
FT DOMAIN 3..87
FT /note="CS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00547"
FT REPEAT 288..321
FT /note="TPR 1"
FT REPEAT 322..355
FT /note="TPR 2"
FT REPEAT 364..397
FT /note="TPR 3"
FT REGION 7..103
FT /note="Mediates interaction with ESR1 and STUB1"
FT /evidence="ECO:0000250"
FT REGION 164..212
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 164..196
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 88
FT /note="V -> M (in Ref. 3; AAH26462)"
FT /evidence="ECO:0000305"
FT CONFLICT 182..184
FT /note="LEG -> PER (in Ref. 3; AAH26462)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 420 AA; 48125 MW; D49B9A9D84B82325 CRC64;
MPVRVSEFSW QQTPATIFLS LPLRGVCVRD ADVFCGESYL KVNFPPFLFE LFLYAPIDDG
KSKAKIGNDT ILFTLYKKEP VLWDSLSVPG VDKEMMQRIR EKSILQAQEK AKEATEAKAV
AKREDQRYAL GEMMKIEEEE RKKIEDMKEN ERKKATSELE AWKECQKKAD GQKRVQRKEK
PLEGKQAEET KALKPRGLPR KAPPTRLPTR GRNWENIFPE KLKEDRVPAP RSAGSIQISF
TPRVFPTALR ESQVAEEEEW LHKQAEARRA MSTDLPEFFD LKEEERNPDW LKDKGNKLFA
TENYLAAVDA YNLAIRLNCK IPLLYLNRAA CHLKLKNLHK AIEDSSKALE LLTPPVADNA
NARMKAHVRR GTAFCQLELY VEGLQDYEAA LKIDPANTVV QNDAEKIRNI IQGTALKSRD
