BBOF1_HUMAN
ID BBOF1_HUMAN Reviewed; 529 AA.
AC Q8ND07; Q0P604; Q9H5P8;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 3.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Basal body-orientation factor 1 {ECO:0000312|HGNC:HGNC:19855};
DE AltName: Full=Coiled-coil domain-containing protein 176;
GN Name=BBOF1 {ECO:0000312|HGNC:HGNC:19855}; Synonyms=C14orf45, CCDC176;
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 GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum, and 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 202-529, AND VARIANT VAL-230.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 283-529.
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).
CC -!- FUNCTION: Basal body protein required in multiciliate cells to align
CC and maintain cilia orientation in response to flow. May act by
CC mediating a maturation step that stabilizes and aligns cilia
CC orientation. Not required to respond to planar cell polarity (PCP) or
CC flow-based orientation cues (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Note=Localizes to a polar structure adjacent to the
CC basal body. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the BBOF1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI04980.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI04982.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15572.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BC044808; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AC005484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044808; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC104979; AAI04980.1; ALT_INIT; mRNA.
DR EMBL; BC104981; AAI04982.1; ALT_INIT; mRNA.
DR EMBL; AL834487; CAD39145.1; -; mRNA.
DR EMBL; AK026842; BAB15572.1; ALT_INIT; mRNA.
DR CCDS; CCDS32119.2; -.
DR RefSeq; NP_079333.2; NM_025057.2.
DR AlphaFoldDB; Q8ND07; -.
DR SMR; Q8ND07; -.
DR BioGRID; 123128; 2.
DR IntAct; Q8ND07; 2.
DR MINT; Q8ND07; -.
DR STRING; 9606.ENSP00000377577; -.
DR GlyGen; Q8ND07; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8ND07; -.
DR PhosphoSitePlus; Q8ND07; -.
DR BioMuta; BBOF1; -.
DR DMDM; 134047726; -.
DR MassIVE; Q8ND07; -.
DR PaxDb; Q8ND07; -.
DR PeptideAtlas; Q8ND07; -.
DR PRIDE; Q8ND07; -.
DR ProteomicsDB; 72971; -.
DR Antibodypedia; 156; 33 antibodies from 13 providers.
DR DNASU; 80127; -.
DR Ensembl; ENST00000394009.5; ENSP00000377577.3; ENSG00000119636.16.
DR GeneID; 80127; -.
DR KEGG; hsa:80127; -.
DR MANE-Select; ENST00000394009.5; ENSP00000377577.3; NM_025057.3; NP_079333.2.
DR UCSC; uc010tup.3; human.
DR CTD; 80127; -.
DR DisGeNET; 80127; -.
DR GeneCards; BBOF1; -.
DR HGNC; HGNC:19855; BBOF1.
DR HPA; ENSG00000119636; Tissue enhanced (testis).
DR MalaCards; BBOF1; -.
DR neXtProt; NX_Q8ND07; -.
DR OpenTargets; ENSG00000119636; -.
DR PharmGKB; PA134886442; -.
DR VEuPathDB; HostDB:ENSG00000119636; -.
DR eggNOG; ENOG502QRCW; Eukaryota.
DR GeneTree; ENSGT00940000154427; -.
DR HOGENOM; CLU_032853_0_0_1; -.
DR InParanoid; Q8ND07; -.
DR OMA; CMTKEFE; -.
DR OrthoDB; 792496at2759; -.
DR PhylomeDB; Q8ND07; -.
DR TreeFam; TF329828; -.
DR PathwayCommons; Q8ND07; -.
DR SignaLink; Q8ND07; -.
DR BioGRID-ORCS; 80127; 10 hits in 1070 CRISPR screens.
DR ChiTaRS; BBOF1; human.
DR GenomeRNAi; 80127; -.
DR Pharos; Q8ND07; Tdark.
DR PRO; PR:Q8ND07; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8ND07; protein.
DR Bgee; ENSG00000119636; Expressed in bronchial epithelial cell and 186 other tissues.
DR ExpressionAtlas; Q8ND07; baseline and differential.
DR Genevisible; Q8ND07; HS.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0044458; P:motile cilium assembly; ISS:UniProtKB.
DR InterPro; IPR029582; Bbof1.
DR InterPro; IPR032777; DUF4515.
DR PANTHER; PTHR14845:SF5; PTHR14845:SF5; 1.
DR Pfam; PF14988; DUF4515; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..529
FT /note="Basal body-orientation factor 1"
FT /id="PRO_0000252293"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 85..201
FT /evidence="ECO:0000255"
FT COILED 271..361
FT /evidence="ECO:0000255"
FT VARIANT 58
FT /note="R -> Q (in dbSNP:rs3784039)"
FT /id="VAR_059618"
FT VARIANT 183
FT /note="R -> K (in dbSNP:rs17182762)"
FT /id="VAR_059619"
FT VARIANT 230
FT /note="D -> V (in dbSNP:rs3784038)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_059620"
FT VARIANT 496
FT /note="K -> E (in dbSNP:rs3742809)"
FT /id="VAR_027815"
SQ SEQUENCE 529 AA; 61987 MW; D08C2C240C52537F CRC64;
MPSKGKDKKK GKSKGKDTKK LIKTDESVVD RAKANASLWE ARLEVTELSR IKYRDTSRIL
AKSNEDLKKK QCKMEKDIMS VLSYLKKQDQ EKDNMIEKLK QQLNETKEKA QEEKDKLEQK
YTRQINELEG QFHQKAKEIG MIHTELKAVR QFQKRKIQVE RELDDLKENL RNTERIHQET
LRRLESRFFE EKHRLEQEAE KKIIMLAERA HHEAIVQLND AGRNVFKEND YLQKALAYHL
KETDALQKNS QKLQESHTLL LHQKEINDLL VKEKIMQLVQ QRSQIQTLQK KVVNLETALS
YMTKEFESEV LKLQQHAMIE NQAGQVEIDK LQHLLQMKDR EMNRVKKLAK NILDERTEVE
RFFLDALHQV KQQILISRKH YKQIAQAAFN LKMRAACTGR TEYPKIRTFD GREHSTNSVN
QDLLEAEKWT HIEGNVDIGD LTWEQKEKVL RLLFAKMNGC PSRKYNQSSR PPVPDYVVSD
SGETKEFGDE SKLQDKIFIT QQIAISDSSG EVVLPTIPKE PQESDTGTF
