ID   CFA68_HUMAN             Reviewed;         150 AA.
AC   Q9H5F2; Q6I9X7; Q9NQC6;
DT   24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 143.
DE   RecName: Full=Cilia- and flagella-associated protein 68;
GN   Name=CFAP68 {ECO:0000312|HGNC:HGNC:1163}; Synonyms=C11orf1;
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], SUBCELLULAR LOCATION, AND VARIANT ALA-40.
RX   PubMed=10873569; DOI=10.1006/bbrc.2000.2910;
RA   O'Brien K.P., Tapia-Paez I., Staahle-Baeckdahl M., Kedra D., Dumanski J.P.;
RT   "Characterization of five novel human genes in the 11q13-q22 region.";
RL   Biochem. Biophys. Res. Commun. 273:90-94(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
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 MRNA], AND VARIANT ALA-40.
RA   Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT   "Cloning of human full open reading frames in Gateway(TM) system entry
RT   vector (pDONR201).";
RL   Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Embryonic testis carcinoma;
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   STRUCTURE BY ELECTRON MICROSCOPY (3.60 ANGSTROMS) IN ASSOCIATION WITH
RP   MICROTUBULES, SUBCELLULAR LOCATION, AND FUNCTION.
RX   PubMed=36191189; DOI=10.1073/pnas.2207605119;
RA   Gui M., Croft J.T., Zabeo D., Acharya V., Kollman J.M., Burgoyne T.,
RA   Hoog J.L., Brown A.;
RT   "SPACA9 is a lumenal protein of human ciliary singlet and doublet
RT   microtubules.";
RL   Proc. Natl. Acad. Sci. U.S.A. 119:e2207605119-e2207605119(2022).
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. {ECO:0000269|PubMed:36191189}.
CC   -!- INTERACTION:
CC       Q9H5F2; P21549: AGXT; NbExp=3; IntAct=EBI-718615, EBI-727098;
CC       Q9H5F2; X5D778: ANKRD11; NbExp=3; IntAct=EBI-718615, EBI-17183751;
CC       Q9H5F2; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-718615, EBI-742909;
CC       Q9H5F2; Q7Z3C6-3: ATG9A; NbExp=3; IntAct=EBI-718615, EBI-12006308;
CC       Q9H5F2; Q8N5M1: ATPAF2; NbExp=3; IntAct=EBI-718615, EBI-1166928;
CC       Q9H5F2; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-718615, EBI-2837444;
CC       Q9H5F2; Q8NEC5: CATSPER1; NbExp=5; IntAct=EBI-718615, EBI-744545;
CC       Q9H5F2; Q9NZN8: CNOT2; NbExp=3; IntAct=EBI-718615, EBI-743033;
CC       Q9H5F2; P27658: COL8A1; NbExp=3; IntAct=EBI-718615, EBI-747133;
CC       Q9H5F2; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-718615, EBI-9679045;
CC       Q9H5F2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-718615, EBI-740376;
CC       Q9H5F2; O75593: FOXH1; NbExp=3; IntAct=EBI-718615, EBI-1759806;
CC       Q9H5F2; O43559: FRS3; NbExp=3; IntAct=EBI-718615, EBI-725515;
CC       Q9H5F2; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-718615, EBI-14103818;
CC       Q9H5F2; O14964: HGS; NbExp=3; IntAct=EBI-718615, EBI-740220;
CC       Q9H5F2; P49639: HOXA1; NbExp=3; IntAct=EBI-718615, EBI-740785;
CC       Q9H5F2; P31273: HOXC8; NbExp=3; IntAct=EBI-718615, EBI-1752118;
CC       Q9H5F2; O43593: HR; NbExp=3; IntAct=EBI-718615, EBI-2880706;
CC       Q9H5F2; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-718615, EBI-2556193;
CC       Q9H5F2; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-718615, EBI-6426443;
CC       Q9H5F2; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-718615, EBI-11953846;
CC       Q9H5F2; P32242: OTX1; NbExp=3; IntAct=EBI-718615, EBI-740446;
CC       Q9H5F2; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-718615, EBI-11022007;
CC       Q9H5F2; Q9UBV8: PEF1; NbExp=3; IntAct=EBI-718615, EBI-724639;
CC       Q9H5F2; P78337: PITX1; NbExp=5; IntAct=EBI-718615, EBI-748265;
CC       Q9H5F2; Q9NRQ2: PLSCR4; NbExp=5; IntAct=EBI-718615, EBI-769257;
CC       Q9H5F2; O43741: PRKAB2; NbExp=3; IntAct=EBI-718615, EBI-1053424;
CC       Q9H5F2; O75360: PROP1; NbExp=5; IntAct=EBI-718615, EBI-9027467;
CC       Q9H5F2; P0CG20: PRR35; NbExp=3; IntAct=EBI-718615, EBI-11986293;
CC       Q9H5F2; Q8NB12: SMYD1; NbExp=3; IntAct=EBI-718615, EBI-8463848;
CC       Q9H5F2; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-718615, EBI-750487;
CC       Q9H5F2; Q08117-2: TLE5; NbExp=3; IntAct=EBI-718615, EBI-11741437;
CC       Q9H5F2; O43711: TLX3; NbExp=3; IntAct=EBI-718615, EBI-3939165;
CC       Q9H5F2; Q15915: ZIC1; NbExp=3; IntAct=EBI-718615, EBI-11963196;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10873569}. Cytoplasm,
CC       cytoskeleton, cilium axoneme {ECO:0000269|PubMed:36191189}.
CC   -!- SIMILARITY: Belongs to the CFAP68 family. {ECO:0000305}.
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DR   EMBL; AJ250229; CAB96538.1; -; mRNA.
DR   EMBL; AK027152; BAB15674.1; -; mRNA.
DR   EMBL; CR457378; CAG33659.1; -; mRNA.
DR   EMBL; BC020628; AAH20628.1; -; mRNA.
DR   CCDS; CCDS8350.1; -.
DR   RefSeq; NP_001317300.1; NM_001330371.1.
DR   RefSeq; NP_073598.1; NM_022761.2.
DR   PDB; 7UNG; EM; 3.60 A; I1=1-150.
DR   PDB; 8J07; EM; 4.10 A; 5L/5M=1-150.
DR   PDBsum; 7UNG; -.
DR   PDBsum; 8J07; -.
DR   AlphaFoldDB; Q9H5F2; -.
DR   EMDB; EMD-26624; -.
DR   EMDB; EMD-35888; -.
DR   SMR; Q9H5F2; -.
DR   BioGRID; 122286; 42.
DR   IntAct; Q9H5F2; 35.
DR   STRING; 9606.ENSP00000260276; -.
DR   iPTMnet; Q9H5F2; -.
DR   PhosphoSitePlus; Q9H5F2; -.
DR   BioMuta; C11orf1; -.
DR   DMDM; 47605552; -.
DR   MassIVE; Q9H5F2; -.
DR   PaxDb; 9606-ENSP00000260276; -.
DR   PeptideAtlas; Q9H5F2; -.
DR   ProteomicsDB; 80904; -.
DR   Antibodypedia; 51443; 106 antibodies from 16 providers.
DR   DNASU; 64776; -.
DR   Ensembl; ENST00000260276.8; ENSP00000260276.3; ENSG00000137720.8.
DR   GeneID; 64776; -.
DR   KEGG; hsa:64776; -.
DR   MANE-Select; ENST00000260276.8; ENSP00000260276.3; NM_022761.3; NP_073598.1.
DR   UCSC; uc001pmd.4; human.
DR   AGR; HGNC:1163; -.
DR   CTD; 64776; -.
DR   GeneCards; CFAP68; -.
DR   HGNC; HGNC:1163; CFAP68.
DR   HPA; ENSG00000137720; Low tissue specificity.
DR   neXtProt; NX_Q9H5F2; -.
DR   OpenTargets; ENSG00000137720; -.
DR   PharmGKB; PA25477; -.
DR   VEuPathDB; HostDB:ENSG00000137720; -.
DR   eggNOG; ENOG502S5NG; Eukaryota.
DR   GeneTree; ENSGT00390000002905; -.
DR   InParanoid; Q9H5F2; -.
DR   OMA; ARSCYMI; -.
DR   OrthoDB; 69639at2759; -.
DR   PhylomeDB; Q9H5F2; -.
DR   TreeFam; TF329225; -.
DR   PathwayCommons; Q9H5F2; -.
DR   SignaLink; Q9H5F2; -.
DR   BioGRID-ORCS; 64776; 6 hits in 1126 CRISPR screens.
DR   ChiTaRS; C11orf1; human.
DR   GeneWiki; C11orf1; -.
DR   GenomeRNAi; 64776; -.
DR   Pharos; Q9H5F2; Tdark.
DR   PRO; PR:Q9H5F2; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q9H5F2; Protein.
DR   Bgee; ENSG00000137720; Expressed in sperm and 179 other cell types or tissues.
DR   ExpressionAtlas; Q9H5F2; baseline and differential.
DR   GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   InterPro; IPR009524; CFAP68.
DR   InterPro; IPR037662; CFAP68/107.
DR   PANTHER; PTHR31180; UNCHARACTERIZED; 1.
DR   PANTHER; PTHR31180:SF3; UPF0686 PROTEIN C11ORF1 HOMOLOG; 1.
DR   Pfam; PF06608; DUF1143; 1.
DR   Genevisible; Q9H5F2; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Cell projection; Cytoplasm; Cytoskeleton; Nucleus;
KW   Reference proteome.
FT   CHAIN           1..150
FT                   /note="Cilia- and flagella-associated protein 68"
FT                   /id="PRO_0000089829"
FT   VARIANT         40
FT                   /note="V -> A (in dbSNP:rs9280)"
FT                   /evidence="ECO:0000269|PubMed:10873569, ECO:0000269|Ref.3"
FT                   /id="VAR_054163"
FT   VARIANT         49
FT                   /note="K -> Q (in dbSNP:rs11540721)"
FT                   /id="VAR_050861"
FT   VARIANT         85
FT                   /note="Q -> H (in dbSNP:rs3180820)"
FT                   /id="VAR_050862"
SQ   SEQUENCE   150 AA;  17785 MW;  BB1D0B7EDE8F2C7B CRC64;
     MAASQCLCCS KFLFQRQNLA CFLTNPHCGS LVNADGHGEV WTDWNNMSKF FQYGWRCTTN
     ENTYSNRTLM GNWNQERYDL RNIVQPKPLP SQFGHYFETT YDTSYNNKMP LSTHRFKREP
     HWFPGHQPEL DPPRYKCTEK STYMNSYSKP
//