CFA52_HUMAN
ID CFA52_HUMAN Reviewed; 620 AA.
AC Q8N1V2; B2RDU7; Q5DX23; Q8TC73; Q8TCI3;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2007, sequence version 3.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Cilia- and flagella-associated protein 52 {ECO:0000312|HGNC:HGNC:16053};
DE AltName: Full=WD repeat-containing protein 16 {ECO:0000312|HGNC:HGNC:16053};
DE AltName: Full=WD40-repeat protein up-regulated in HCC {ECO:0000303|PubMed:15967112};
GN Name=CFAP52 {ECO:0000312|HGNC:HGNC:16053};
GN Synonyms=WDR16 {ECO:0000312|HGNC:HGNC:16053},
GN WDRPUH {ECO:0000303|PubMed:15967112};
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 [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH HSP70;
RP CCT CHAPERONIN COMPLEX AND BRCA2, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=15967112; DOI=10.1593/neo.04544;
RA Silva F.P., Hamamoto R., Nakamura Y., Furukawa Y.;
RT "WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human
RT hepatocellular carcinoma and involved in cell proliferation.";
RL Neoplasia 7:348-355(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP LYS-336.
RC TISSUE=Caudate nucleus, Lung, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LYS-336.
RC TISSUE=Testis;
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 [5]
RP FUNCTION, INTERACTION WITH AK8; CFAP45 AND DNAI1, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY, INVOLVEMENT IN HTX10, AND VARIANT HTX10 ARG-271.
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 (PubMed:15967112). {ECO:0000250|UniProtKB:E1BKF9,
CC ECO:0000269|PubMed:15967112, ECO:0000269|PubMed:33139725}.
CC -!- SUBUNIT: Interacts with BRCA2 (PubMed:15967112). Interacts with the CCT
CC chaperonin complex (PubMed:15967112). Interacts with HSP70
CC (PubMed:15967112). Interacts with AK8 (PubMed:33139725). Interacts with
CC CFAP45 (PubMed:33139725). Interacts with DNAI1 (PubMed:33139725).
CC Interacts with IQDC (By similarity). {ECO:0000250|UniProtKB:F1SS88,
CC ECO:0000269|PubMed:15967112, ECO:0000269|PubMed:33139725}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15967112}. Cell
CC projection, cilium, flagellum {ECO:0000250|UniProtKB:A8ILK1}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:33139725}.
CC Note=Located in the proximal region of respiratory cilia.
CC {ECO:0000269|PubMed:33139725}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N1V2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N1V2-2; Sequence=VSP_018067;
CC Name=3;
CC IsoId=Q8N1V2-3; Sequence=VSP_018068;
CC -!- TISSUE SPECIFICITY: Expressed in respiratory cells and sperm (at
CC protein level) (PubMed:33139725). Highly expressed in testis
CC (PubMed:15967112). Up-regulated in hepatocellular carcinoma (HCC)
CC (PubMed:15967112). {ECO:0000269|PubMed:15967112,
CC ECO:0000269|PubMed:33139725}.
CC -!- DISEASE: Heterotaxy, visceral, 10, autosomal, with male infertility
CC (HTX10) [MIM:619607]: A form of visceral heterotaxy, a complex disorder
CC due to disruption of the normal left-right asymmetry of the
CC thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results
CC in randomization of the placement of visceral organs, including the
CC heart, lungs, liver, spleen, and stomach. The organs are oriented
CC randomly with respect to the left-right axis and with respect to one
CC another. It can be associated with a variety of congenital defects
CC including cardiac malformations. HTX10 is an autosomal recessive form
CC associated with male infertility. {ECO:0000269|PubMed:33139725}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- MISCELLANEOUS: May be a good candidate as a diagnostic marker for HCC
CC as well as a potential molecular target for development of novel
CC therapeutic drugs.
CC -!- SIMILARITY: Belongs to the CFAP52 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB85083.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB065281; BAB83743.1; -; mRNA.
DR EMBL; AK074435; BAB85083.1; ALT_FRAME; mRNA.
DR EMBL; AK094847; BAC04435.1; -; mRNA.
DR EMBL; AK315679; BAG38044.1; -; mRNA.
DR EMBL; AC087501; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC118755; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025392; AAH25392.1; -; mRNA.
DR CCDS; CCDS11149.2; -. [Q8N1V2-1]
DR CCDS; CCDS42262.1; -. [Q8N1V2-3]
DR RefSeq; NP_001074025.1; NM_001080556.1. [Q8N1V2-3]
DR RefSeq; NP_659491.4; NM_145054.4. [Q8N1V2-1]
DR AlphaFoldDB; Q8N1V2; -.
DR SMR; Q8N1V2; -.
DR BioGRID; 127014; 25.
DR IntAct; Q8N1V2; 10.
DR STRING; 9606.ENSP00000339449; -.
DR iPTMnet; Q8N1V2; -.
DR PhosphoSitePlus; Q8N1V2; -.
DR BioMuta; CFAP52; -.
DR DMDM; 146291099; -.
DR MassIVE; Q8N1V2; -.
DR PaxDb; Q8N1V2; -.
DR PeptideAtlas; Q8N1V2; -.
DR PRIDE; Q8N1V2; -.
DR ProteomicsDB; 71634; -. [Q8N1V2-1]
DR ProteomicsDB; 71635; -. [Q8N1V2-2]
DR ProteomicsDB; 71636; -. [Q8N1V2-3]
DR Antibodypedia; 12661; 102 antibodies from 19 providers.
DR DNASU; 146845; -.
DR Ensembl; ENST00000352665.10; ENSP00000339449.5; ENSG00000166596.15. [Q8N1V2-1]
DR Ensembl; ENST00000396219.7; ENSP00000379521.3; ENSG00000166596.15. [Q8N1V2-3]
DR GeneID; 146845; -.
DR KEGG; hsa:146845; -.
DR MANE-Select; ENST00000352665.10; ENSP00000339449.5; NM_145054.5; NP_659491.4.
DR UCSC; uc002gly.5; human. [Q8N1V2-1]
DR CTD; 146845; -.
DR DisGeNET; 146845; -.
DR GeneCards; CFAP52; -.
DR HGNC; HGNC:16053; CFAP52.
DR HPA; ENSG00000166596; Tissue enhanced (choroid plexus, fallopian tube).
DR MalaCards; CFAP52; -.
DR MIM; 609804; gene.
DR MIM; 619607; phenotype.
DR neXtProt; NX_Q8N1V2; -.
DR OpenTargets; ENSG00000166596; -.
DR Orphanet; 101063; Situs inversus totalis.
DR PharmGKB; PA38084; -.
DR VEuPathDB; HostDB:ENSG00000166596; -.
DR eggNOG; KOG0266; Eukaryota.
DR GeneTree; ENSGT00940000157016; -.
DR HOGENOM; CLU_009244_2_0_1; -.
DR InParanoid; Q8N1V2; -.
DR OMA; LLRIMVY; -.
DR OrthoDB; 185227at2759; -.
DR PhylomeDB; Q8N1V2; -.
DR TreeFam; TF323254; -.
DR PathwayCommons; Q8N1V2; -.
DR SignaLink; Q8N1V2; -.
DR BioGRID-ORCS; 146845; 12 hits in 1069 CRISPR screens.
DR ChiTaRS; CFAP52; human.
DR GenomeRNAi; 146845; -.
DR Pharos; Q8N1V2; Tbio.
DR PRO; PR:Q8N1V2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N1V2; protein.
DR Bgee; ENSG00000166596; Expressed in bronchial epithelial cell and 112 other tissues.
DR ExpressionAtlas; Q8N1V2; baseline and differential.
DR Genevisible; Q8N1V2; HS.
DR GO; GO:0097729; C:9+2 motile cilium; IMP:GO_Central.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IMP:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0061966; P:establishment of left/right asymmetry; IMP:GO_Central.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:GO_Central.
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; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Disease variant; Flagellum; Heterotaxy; Reference proteome; Repeat;
KW WD repeat.
FT CHAIN 1..620
FT /note="Cilia- and flagella-associated protein 52"
FT /id="PRO_0000233153"
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 288..327
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 330..369
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 372..411
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REPEAT 415..454
FT /note="WD 7"
FT /evidence="ECO:0000255"
FT REPEAT 459..498
FT /note="WD 8"
FT /evidence="ECO:0000255"
FT REPEAT 500..539
FT /note="WD 9"
FT /evidence="ECO:0000255"
FT REPEAT 543..582
FT /note="WD 10"
FT /evidence="ECO:0000255"
FT REPEAT 585..620
FT /note="WD 11"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..23
FT /note="MDNKISPEAQVAELELDAVIGFN -> MEAVVLPWQIFGVRELPVERGVTMK
FT GPRLFRAP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_018067"
FT VAR_SEQ 24..91
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_018068"
FT VARIANT 271
FT /note="G -> R (in HTX10; loss of panaxonemal expression in
FT respiratory cilia; dbSNP:rs140921334)"
FT /evidence="ECO:0000269|PubMed:33139725"
FT /id="VAR_085332"
FT VARIANT 336
FT /note="E -> K (in dbSNP:rs6503235)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_026057"
FT CONFLICT 91
FT /note="A -> V (in Ref. 4; AAH25392)"
FT /evidence="ECO:0000305"
FT CONFLICT 199
FT /note="C -> S (in Ref. 4; AAH25392)"
FT /evidence="ECO:0000305"
FT CONFLICT 243
FT /note="G -> E (in Ref. 2; BAB85083)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 620 AA; 68298 MW; DC2F5DC3994CD7DD CRC64;
MDNKISPEAQ VAELELDAVI GFNGHVPTGL KCHPDQEHMI YPLGCTVLIQ AINTKEQNFL
QGHGNNVSCL AISRSGEYIA SGQVTFMGFK ADIILWDYKN RELLARLSLH KGKIEALAFS
PNDLYLVSLG GPDDGSVVVW SIAKRDAICG SPAAGLNVGN ATNVIFSRCR DEMFMTAGNG
TIRVWELDLP NRKIWPTECQ TGQLKRIVMS IGVDDDDSFF YLGTTTGDIL KMNPRTKLLT
DVGPAKDKFS LGVSAIRCLK MGGLLVGSGA GLLVFCKSPG YKPIKKIQLQ GGITSITLRG
EGHQFLVGTE ESHIYRVSFT DFKETLIATC HFDAVEDIVF PFGTAELFAT CAKKDIRVWH
TSSNRELLRI TVPNMTCHGI DFMRDGKSII SAWNDGKIRA FAPETGRLMY VINNAHRIGV
TAIATTSDCK RVISGGGEGE VRVWQIGCQT QKLEEALKEH KSSVSCIRVK RNNEECVTAS
TDGTCIIWDL VRLRRNQMIL ANTLFQCVCY HPEEFQIITS GTDRKIAYWE VFDGTVIREL
EGSLSGSING MDITQEGVHF VTGGNDHLVK VWDYNEGEVT HVGVGHSGNI TRIRISPGNQ
YIVSVSADGA ILRWKYPYTS
