DAAF4_PONPY
ID DAAF4_PONPY Reviewed; 420 AA.
AC Q863A4;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 79.
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 Pongo pygmaeus (Bornean orangutan).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Pongo.
OX NCBI_TaxID=9600;
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; AY178618; AAO22537.1; -; Genomic_DNA.
DR EMBL; AY178610; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178611; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178612; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178613; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178614; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178615; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178616; AAO22537.1; JOINED; Genomic_DNA.
DR EMBL; AY178617; AAO22537.1; JOINED; Genomic_DNA.
DR AlphaFoldDB; Q863A4; -.
DR SMR; Q863A4; -.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0043005; C:neuron projection; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0030331; F:nuclear estrogen receptor binding; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; ISS:UniProtKB.
DR GO; GO:0036159; P:inner dynein arm assembly; ISS:UniProtKB.
DR GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; ISS: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 3: Inferred from homology;
KW Cell projection; Cytoplasm; Neurogenesis; Nucleus; Repeat; TPR repeat.
FT CHAIN 1..420
FT /note="Dynein axonemal assembly factor 4"
FT /id="PRO_0000106288"
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; 48538 MW; BB967478F0E56924 CRC64;
MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKETMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKELE AWKEYQRKAE EHKKIQREEK
LCQKEKQIKE ERKKLKYKSL TRNSASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA LELLMPPVTD
NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK IVQIDAEKIR NVIQGTELKS