DAAF4_GORGO
ID DAAF4_GORGO Reviewed; 420 AA.
AC Q863A5;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 94.
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 Gorilla gorilla gorilla (Western lowland gorilla).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Gorilla.
OX NCBI_TaxID=9595;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12954984; DOI=10.1073/pnas.1833911100;
RA Taipale M., Kaminen N., Nopola-Hemmi J., Haltia T., Myllyluoma B.,
RA Lyytinen H., Muller K., Kaaranen M., Lindsberg P.J., Hannula-Jouppi K.,
RA Kere J.;
RT "A candidate gene for developmental dyslexia encodes a nuclear
RT tetratricopeptide repeat domain protein dynamically regulated in brain.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:11553-11558(2003).
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. Axonemal dynein
CC assembly factor required for ciliary motility (By similarity).
CC {ECO:0000250|UniProtKB:Q8R368, ECO:0000250|UniProtKB:Q8WXU2}.
CC -!- SUBUNIT: Interacts with ZMYND10 (By similarity). Interacts with STUB1
CC (By similarity). Interacts with ESR1 and ESR2. Interacts with DNAAF2
CC (By similarity). Interacts with CCT3, CCT4, CCT5 and CCT8 (By
CC similarity). Interacts with DNAAF6/PIH1D3 (By similarity).
CC {ECO:0000250|UniProtKB:Q8R368, ECO:0000250|UniProtKB:Q8WXU2}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8WXU2}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q5VJS5}. Cell projection, neuron projection
CC {ECO:0000250|UniProtKB:Q5VJS5}. Dynein axonemal particle
CC {ECO:0000250|UniProtKB:Q6AZN0}.
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DR EMBL; AY178609; AAO22536.1; -; Genomic_DNA.
DR EMBL; AY178601; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178602; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178603; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178604; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178605; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178606; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178607; AAO22536.1; JOINED; Genomic_DNA.
DR EMBL; AY178608; AAO22536.1; JOINED; Genomic_DNA.
DR RefSeq; XP_018866356.1; XM_019010811.1.
DR AlphaFoldDB; Q863A5; -.
DR SMR; Q863A5; -.
DR STRING; 9593.ENSGGOP00000005314; -.
DR Ensembl; ENSGGOT00000059067; ENSGGOP00000034796; ENSGGOG00000005429.
DR GeneID; 101126613; -.
DR KEGG; ggo:101126613; -.
DR CTD; 161582; -.
DR eggNOG; KOG1124; Eukaryota.
DR GeneTree; ENSGT00390000004930; -.
DR InParanoid; Q863A5; -.
DR OrthoDB; 1485667at2759; -.
DR Proteomes; UP000001519; Chromosome 15.
DR Bgee; ENSGGOG00000005429; Expressed in testis and 5 other tissues.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
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:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0030331; F:nuclear estrogen receptor binding; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR GO; GO:0007368; P:determination of left/right symmetry; IBA:GO_Central.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IBA:GO_Central.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR GO; GO:0036159; P:inner dynein arm assembly; IBA:GO_Central.
DR GO; GO:0007611; P:learning or memory; IEA:Ensembl.
DR GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; IBA:GO_Central.
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 3: Inferred from homology;
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_0000106283"
FT DOMAIN 3..87
FT /note="CS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00547"
FT REPEAT 290..323
FT /note="TPR 1"
FT REPEAT 324..357
FT /note="TPR 2"
FT REPEAT 366..399
FT /note="TPR 3"
FT REGION 7..103
FT /note="Mediates interaction with ESR1 and STUB1"
FT /evidence="ECO:0000250"
SQ SEQUENCE 420 AA; 48614 MW; 7AA288F705047BA5 CRC64;
MPLQVSDYSW QQTKTVVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKELE AWKEYQRKAE EQKEIQREEK
LCQKEKQIKE ERKKLKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA LELLMPPVTD
NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK IVQIDAEKIR NVIQGTELKS
