CF300_HUMAN
ID CF300_HUMAN Reviewed; 267 AA.
AC Q9BRQ4; E9PJU1;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Cilia- and flagella-associated protein 300 {ECO:0000305};
GN Name=CFAP300 {ECO:0000312|HGNC:HGNC:28188}; Synonyms=C11orf70;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Caudate nucleus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Pancreas;
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 [4]
RP VARIANTS CILD38 52-GLN--SER-267 DEL; 121-ARG--SER-267 DEL AND ARG-259,
RP INVOLVEMENT IN CILD38, AND INDUCTION.
RX PubMed=29727692; DOI=10.1016/j.ajhg.2018.03.024;
RA Fassad M.R., Shoemark A., le Borgne P., Koll F., Patel M., Dixon M.,
RA Hayward J., Richardson C., Frost E., Jenkins L., Cullup T., Chung E.M.K.,
RA Lemullois M., Aubusson-Fleury A., Hogg C., Mitchell D.R., Tassin A.M.,
RA Mitchison H.M.;
RT "C11orf70 mutations disrupting the intraflagellar transport-dependent
RT assembly of multiple axonemal dyneins cause primary ciliary dyskinesia.";
RL Am. J. Hum. Genet. 102:956-972(2018).
RN [5]
RP VARIANTS CILD38 121-ARG--SER-267 DEL AND 145-ARG--SER-267 DEL, INTERACTION
RP WITH DNAAF2, TISSUE SPECIFICITY, INVOLVEMENT IN CILD38, AND INDUCTION.
RX PubMed=29727693; DOI=10.1016/j.ajhg.2018.03.025;
RA Hoeben I.M., Hjeij R., Olbrich H., Dougherty G.W., Noethe-Menchen T.,
RA Aprea I., Frank D., Pennekamp P., Dworniczak B., Wallmeier J., Raidt J.,
RA Nielsen K.G., Philipsen M.C., Santamaria F., Venditto L., Amirav I.,
RA Mussaffi H., Prenzel F., Wu K., Bakey Z., Schmidts M., Loges N.T.,
RA Omran H.;
RT "Mutations in C11orf70 cause primary ciliary dyskinesia with randomization
RT of left/right body asymmetry due to defects of outer and inner dynein
RT arms.";
RL Am. J. Hum. Genet. 102:973-984(2018).
CC -!- FUNCTION: Cilium- and flagellum-specific protein that plays a role in
CC axonemal structure organization and motility. May play a role in outer
CC and inner dynein arm assembly. {ECO:0000250|UniProtKB:A0CY51}.
CC -!- SUBUNIT: Interacts with DNAAF2. {ECO:0000269|PubMed:29727693}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A0CY51}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A0CY51}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BRQ4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BRQ4-2; Sequence=VSP_022694;
CC Name=3;
CC IsoId=Q9BRQ4-3; Sequence=VSP_046692, VSP_046693;
CC -!- TISSUE SPECIFICITY: Expressed in nasal epithelial cells.
CC {ECO:0000269|PubMed:29727693}.
CC -!- INDUCTION: Up-regulated during ciliogenesis.
CC {ECO:0000269|PubMed:29727692, ECO:0000269|PubMed:29727693}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063]: A form
CC of primary ciliary dyskinesia, a disorder characterized by
CC abnormalities of motile cilia. Respiratory infections leading to
CC chronic inflammation and bronchiectasis are recurrent, due to defects
CC in the respiratory cilia. Some patients exhibit randomization of left-
CC right body asymmetry and situs inversus. Primary ciliary dyskinesia
CC associated with situs inversus is referred to as Kartagener syndrome.
CC CILD38 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:29727692, ECO:0000269|PubMed:29727693}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the CFAP300 family. {ECO:0000305}.
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DR EMBL; AK094851; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AP001527; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006128; AAH06128.1; -; mRNA.
DR CCDS; CCDS53698.1; -. [Q9BRQ4-3]
DR CCDS; CCDS8313.2; -. [Q9BRQ4-1]
DR RefSeq; NP_116319.2; NM_032930.2. [Q9BRQ4-1]
DR AlphaFoldDB; Q9BRQ4; -.
DR BioGRID; 124431; 14.
DR IntAct; Q9BRQ4; 7.
DR STRING; 9606.ENSP00000414390; -.
DR iPTMnet; Q9BRQ4; -.
DR PhosphoSitePlus; Q9BRQ4; -.
DR BioMuta; C11orf70; -.
DR DMDM; 308153617; -.
DR MassIVE; Q9BRQ4; -.
DR PaxDb; Q9BRQ4; -.
DR PeptideAtlas; Q9BRQ4; -.
DR PRIDE; Q9BRQ4; -.
DR ProteomicsDB; 21250; -.
DR ProteomicsDB; 78804; -. [Q9BRQ4-1]
DR ProteomicsDB; 78805; -. [Q9BRQ4-2]
DR Antibodypedia; 45426; 46 antibodies from 16 providers.
DR DNASU; 85016; -.
DR Ensembl; ENST00000434758.7; ENSP00000414390.2; ENSG00000137691.13. [Q9BRQ4-1]
DR Ensembl; ENST00000534360.1; ENSP00000435482.1; ENSG00000137691.13. [Q9BRQ4-3]
DR GeneID; 85016; -.
DR KEGG; hsa:85016; -.
DR MANE-Select; ENST00000434758.7; ENSP00000414390.2; NM_032930.3; NP_116319.2.
DR UCSC; uc001pgo.4; human. [Q9BRQ4-1]
DR CTD; 85016; -.
DR DisGeNET; 85016; -.
DR GeneCards; CFAP300; -.
DR HGNC; HGNC:28188; CFAP300.
DR HPA; ENSG00000137691; Tissue enhanced (fallopian tube, testis).
DR MalaCards; CFAP300; -.
DR MIM; 618058; gene.
DR MIM; 618063; phenotype.
DR neXtProt; NX_Q9BRQ4; -.
DR OpenTargets; ENSG00000137691; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA144596489; -.
DR VEuPathDB; HostDB:ENSG00000137691; -.
DR eggNOG; ENOG502QUFH; Eukaryota.
DR GeneTree; ENSGT00510000047559; -.
DR HOGENOM; CLU_068703_0_0_1; -.
DR InParanoid; Q9BRQ4; -.
DR OMA; VVPCTQI; -.
DR OrthoDB; 1089634at2759; -.
DR PhylomeDB; Q9BRQ4; -.
DR TreeFam; TF329188; -.
DR PathwayCommons; Q9BRQ4; -.
DR SignaLink; Q9BRQ4; -.
DR BioGRID-ORCS; 85016; 13 hits in 1038 CRISPR screens.
DR GenomeRNAi; 85016; -.
DR Pharos; Q9BRQ4; Tdark.
DR PRO; PR:Q9BRQ4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9BRQ4; protein.
DR Bgee; ENSG00000137691; Expressed in bronchial epithelial cell and 117 other tissues.
DR ExpressionAtlas; Q9BRQ4; baseline and differential.
DR Genevisible; Q9BRQ4; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR InterPro; IPR029416; CFAP300.
DR PANTHER; PTHR31078; PTHR31078; 1.
DR Pfam; PF14926; DUF4498; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cytoplasm; Cytoskeleton;
KW Disease variant; Kartagener syndrome; Primary ciliary dyskinesia;
KW Reference proteome.
FT CHAIN 1..267
FT /note="Cilia- and flagella-associated protein 300"
FT /id="PRO_0000274276"
FT VAR_SEQ 1..38
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022694"
FT VAR_SEQ 91..99
FT /note="TEVKKIEAI -> FASGRLRKI (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046692"
FT VAR_SEQ 100..267
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046693"
FT VARIANT 52..267
FT /note="Missing (in CILD38; loss of ciliary axoneme inner
FT dynein arm and outer dynein arm structures in patient
FT respiratory epithelial cells)"
FT /evidence="ECO:0000269|PubMed:29727692"
FT /id="VAR_080472"
FT VARIANT 121..267
FT /note="Missing (in CILD38; loss of ciliary axoneme inner
FT dynein arm and outer dynein arm structures in patient
FT respiratory epithelial cells)"
FT /evidence="ECO:0000269|PubMed:29727692,
FT ECO:0000269|PubMed:29727693"
FT /id="VAR_080473"
FT VARIANT 145..267
FT /note="Missing (in CILD38; loss of ciliary axoneme inner
FT dynein arm and outer dynein arm structures in patient
FT respiratory epithelial cells)"
FT /evidence="ECO:0000269|PubMed:29727693"
FT /id="VAR_080474"
FT VARIANT 259
FT /note="H -> R (in CILD38; loss of ciliary axoneme inner
FT dynein arm and outer dynein arm structures in patient
FT respiratory epithelial cells; dbSNP:rs1555071691)"
FT /evidence="ECO:0000269|PubMed:29727692"
FT /id="VAR_080475"
FT CONFLICT 62
FT /note="F -> S (in Ref. 1; AK094851)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 267 AA; 30859 MW; BCDB29F86417EB31 CRC64;
MATGELGDLG GYYFRFLPQK TFQSLSSKEI TSRLRQWSML GRIKAQAFGF DQTFQSYRKD
DFVMAFFKDP NVIPNLKLLS DSSGQWIILG TEVKKIEAIN VPCTQLSMSF FHRLYDEDIV
RDSGHIVKCL DSFCDPFLIS DELRRVLLVE DSEKYEIFSQ PDREEFLFCL FKHLCLGGAL
CQYEDVISPY LETTKLIYKD LVSVRKNPQT KKIQITSSVF KVSAYDSAGM CYPSAKNHEQ
TFSYFIVDPI RRHLHVLYHC YGVGDMS
