CFA52_PIG
ID CFA52_PIG Reviewed; 620 AA.
AC F1SS88;
DT 23-FEB-2022, integrated into UniProtKB/Swiss-Prot.
DT 22-NOV-2017, sequence version 3.
DT 03-AUG-2022, entry version 64.
DE RecName: Full=Cilia- and flagella-associated protein 52;
DE AltName: Full=WD repeat-containing protein 16;
GN Name=CFAP52; Synonyms=WDR16;
OS Sus scrofa (Pig).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus.
OX NCBI_TaxID=9823;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Duroc;
RG Porcine genome sequencing project;
RL Submitted (NOV-2009) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP IDENTIFICATION.
RX PubMed=30723633; DOI=10.7717/peerj.6374;
RA Gilbert D.G.;
RT "Genes of the pig, Sus scrofa, reconstructed with EvidentialGene.";
RL PeerJ 7:E6374-E6374(2019).
RN [3]
RP FUNCTION, INTERACTION WITH AK8; CFAP45; DNAI1 AND IQDC, AND TISSUE
RP SPECIFICITY.
RX PubMed=33139725; DOI=10.1038/s41467-020-19113-0;
RA Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K.,
RA Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T.,
RA Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O.,
RA Rabert F., Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T.,
RA Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K.,
RA Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K.,
RA Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M.,
RA Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R.,
RA Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.;
RT "CFAP45 deficiency causes situs abnormalities and asthenospermia by
RT disrupting an axonemal adenine nucleotide homeostasis module.";
RL Nat. Commun. 11:5520-5520(2020).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating (By similarity). Important for proper ciliary and
CC flagellar beating. May act in cooperation with CFAP45 and axonemal
CC dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth
CC and/or survival (By similarity). {ECO:0000250|UniProtKB:E1BKF9,
CC ECO:0000250|UniProtKB:Q8N1V2, ECO:0000269|PubMed:33139725}.
CC -!- SUBUNIT: Interacts with BRCA2. Interacts with the CCT chaperonin
CC complex. Interacts with HSP70. Interacts with AK8 (PubMed:33139725).
CC Interacts with CFAP45 (PubMed:33139725). Interacts with DNAI1
CC (PubMed:33139725). Interacts with IQDC (PubMed:33139725).
CC {ECO:0000269|PubMed:33139725}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8N1V2}. Cell
CC projection, cilium, flagellum {ECO:0000250|UniProtKB:A8ILK1}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q8N1V2}.
CC Note=Located in the proximal region of respiratory cilia.
CC {ECO:0000250|UniProtKB:Q8N1V2}.
CC -!- TISSUE SPECIFICITY: Expressed in respiratory cells and sperm (at
CC protein level). {ECO:0000269|PubMed:33139725}.
CC -!- SIMILARITY: Belongs to the CFAP52 family. {ECO:0000305}.
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DR EMBL; AEMK02000082; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; DQIR01081353; HDA36829.1; -; Transcribed_RNA.
DR EMBL; DQIR01277339; HDC32817.1; -; Transcribed_RNA.
DR EMBL; DQIR01277340; HDC32818.1; -; Transcribed_RNA.
DR SMR; F1SS88; -.
DR STRING; 9823.ENSSSCP00000019064; -.
DR PaxDb; F1SS88; -.
DR Ensembl; ENSSSCT00000019583; ENSSSCP00000019064; ENSSSCG00000017994.
DR Ensembl; ENSSSCT00035081562; ENSSSCP00035033763; ENSSSCG00035060745.
DR Ensembl; ENSSSCT00065035553; ENSSSCP00065014881; ENSSSCG00065026448.
DR Ensembl; ENSSSCT00070045918; ENSSSCP00070038716; ENSSSCG00070023059.
DR VGNC; VGNC:86602; CFAP52.
DR eggNOG; KOG0266; Eukaryota.
DR GeneTree; ENSGT00940000157016; -.
DR HOGENOM; CLU_2014538_0_0_1; -.
DR InParanoid; F1SS88; -.
DR OMA; LLRIMVY; -.
DR OrthoDB; 185227at2759; -.
DR Proteomes; UP000008227; Chromosome 12.
DR Proteomes; UP000314985; Chromosome 12.
DR Bgee; ENSSSCG00000017994; Expressed in testis and 25 other tissues.
DR ExpressionAtlas; F1SS88; baseline.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0061966; P:establishment of left/right asymmetry; IEA:Ensembl.
DR GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR033015; CFAP52.
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 PANTHER; PTHR13720:SF14; PTHR13720:SF14; 1.
DR Pfam; PF00400; WD40; 5.
DR SMART; SM00320; WD40; 11.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Cytoskeleton; Flagellum;
KW Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..620
FT /note="Cilia- and flagella-associated protein 52"
FT /id="PRO_0000454204"
FT REPEAT 62..106
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 109..150
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 156..195
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 203..242
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 288..327
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 330..369
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REPEAT 372..411
FT /note="WD 7"
FT /evidence="ECO:0000255"
FT REPEAT 415..454
FT /note="WD 8"
FT /evidence="ECO:0000255"
FT REPEAT 459..498
FT /note="WD 9"
FT /evidence="ECO:0000255"
FT REPEAT 500..539
FT /note="WD 10"
FT /evidence="ECO:0000255"
FT REPEAT 543..582
FT /note="WD 11"
FT /evidence="ECO:0000255"
FT REPEAT 585..620
FT /note="WD 12"
FT /evidence="ECO:0000255"
SQ SEQUENCE 620 AA; 68118 MW; D5958A7F6D418BCE CRC64;
MENQIQPKAE VAKLELEAVI GFNGHVPTGL KCHPDQEHLI YPLGCTILIQ AIKTQEQNFL
HGHSNNVSCV TISKSGVYIA SGQVTFMGFK ADIILWDYKK RELMARLSLH KGKIEALAFS
PNDLYLVSLG GPDDGSVVVW SIAKTEAICG SPAAGLNVGN ATSVVFSQCH DEMFVTAGNG
TIRVWELDLP NRKIWPTECQ TGQMKRIVMS ISMASDDSFF YLGTTTGDIL KMNPRTKLLA
DTGPAKDKFS LGVSAIKCLK TGGLLVGSGA GLLVFCRSPS YKPIKKIQLQ GGITSISLRG
EGHQFFVGTE ESHIYRVNFT DFKETLVTTC HFEAVEDVVF PFGTAELFAT CAKKDIRVWH
TLSNRELLRI TVPNMTCHGI DFMRDGKSLI SAWDDGKIRA FAPETGRLMY VISNAHRIGV
TAVATTSDCT RVISGGGEGE VRVWQIGHQT QKLEEALKEH KSSVSCIRVK KNNEECVTAS
TDGTCIIWDL VRLRRNQMIL ANTLFQCVCY HPEEFQIITS GTDRKIAYWE VFDGSGIREL
DGSLSGSING MDITPEGVHF VTGGNDHLVK VWDYNEGEVT HVGVGHSGNI TRVRISPGNE
YIVSVSADGA ILRWKYPFPS
