CFA54_MOUSE
ID CFA54_MOUSE Reviewed; 3106 AA.
AC Q8C6S9; A0A0K0NTX9; D3Z3Q2; E9PUV7;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-FEB-2015, sequence version 4.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Cilia- and flagella-associated protein 54 {ECO:0000305};
GN Name=Cfap54 {ECO:0000312|MGI:MGI:1922208};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, DISRUPTION PHENOTYPE, AND
RP TISSUE SPECIFICITY.
RC STRAIN=C57BL/6J;
RX PubMed=26224312; DOI=10.1091/mbc.e15-02-0121;
RA McKenzie C.W., Craige B., Kroeger T.V., Finn R., Wyatt T.A., Sisson J.H.,
RA Pavlik J.A., Strittmatter L., Hendricks G.M., Witman G.B., Lee L.;
RT "CFAP54 is required for proper ciliary motility and assembly of the central
RT pair apparatus in mice.";
RL Mol. Biol. Cell 26:3140-3149(2015).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-370.
RC STRAIN=C57BL/6J; TISSUE=Lung;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
CC -!- FUNCTION: Required for assembly and function of cilia and flagella
CC (PubMed:26224312). {ECO:0000269|PubMed:26224312}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A8J666}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8C6S9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C6S9-2; Sequence=VSP_058120;
CC -!- TISSUE SPECIFICITY: Expressed at high level in the testis and at a low
CC level in the lung and brain. {ECO:0000269|PubMed:26224312}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice shown hydrocephalus, male
CC infertility, and accumulation of mucus in the sinus cavity. The male
CC infertility is due to severe defects in spermatid flagellar formation.
CC {ECO:0000269|PubMed:26224312}.
CC -!- SIMILARITY: Belongs to the CFAP54 family. {ECO:0000305}.
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DR EMBL; KM983399; AKN79615.1; -; mRNA.
DR EMBL; AC122326; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC162939; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC168049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK053219; BAC35315.1; -; mRNA.
DR CCDS; CCDS88073.1; -. [Q8C6S9-2]
DR RefSeq; NP_001333989.1; NM_001347060.1. [Q8C6S9-2]
DR RefSeq; XP_011241942.1; XM_011243640.1.
DR STRING; 10090.ENSMUSP00000129517; -.
DR iPTMnet; Q8C6S9; -.
DR PhosphoSitePlus; Q8C6S9; -.
DR MaxQB; Q8C6S9; -.
DR PaxDb; Q8C6S9; -.
DR PeptideAtlas; Q8C6S9; -.
DR PRIDE; Q8C6S9; -.
DR ProteomicsDB; 281648; -. [Q8C6S9-1]
DR ProteomicsDB; 281649; -. [Q8C6S9-2]
DR Antibodypedia; 50190; 5 antibodies from 5 providers.
DR Ensembl; ENSMUST00000168110; ENSMUSP00000129517; ENSMUSG00000020014. [Q8C6S9-1]
DR Ensembl; ENSMUST00000212902; ENSMUSP00000148636; ENSMUSG00000020014. [Q8C6S9-2]
DR GeneID; 380654; -.
DR KEGG; mmu:380654; -.
DR UCSC; uc007guh.1; mouse. [Q8C6S9-1]
DR CTD; 144535; -.
DR MGI; MGI:1922208; Cfap54.
DR VEuPathDB; HostDB:ENSMUSG00000020014; -.
DR eggNOG; ENOG502QVDY; Eukaryota.
DR GeneTree; ENSGT00940000162446; -.
DR HOGENOM; CLU_000333_0_0_1; -.
DR InParanoid; Q8C6S9; -.
DR OrthoDB; 31951at2759; -.
DR PhylomeDB; Q8C6S9; -.
DR TreeFam; TF328826; -.
DR BioGRID-ORCS; 380654; 0 hits in 2 CRISPR screens.
DR ChiTaRS; Cfap54; mouse.
DR PRO; PR:Q8C6S9; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q8C6S9; protein.
DR Bgee; ENSMUSG00000020014; Expressed in spermatocyte and 107 other tissues.
DR ExpressionAtlas; Q8C6S9; baseline and differential.
DR Genevisible; Q8C6S9; MM.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IGI:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0060294; P:cilium movement involved in cell motility; IMP:UniProtKB.
DR GO; GO:0051649; P:establishment of localization in cell; IGI:MGI.
DR GO; GO:0120197; P:mucociliary clearance; IGI:MGI.
DR GO; GO:0120316; P:sperm flagellum assembly; IGI:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:UniProtKB.
DR InterPro; IPR027912; CFAP54.
DR Pfam; PF14858; CFAP54_N; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Differentiation;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..3106
FT /note="Cilia- and flagella-associated protein 54"
FT /id="PRO_0000324607"
FT REGION 1..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2354..2374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..23
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 36..58
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1913
FT /note="Q -> QDERGGMDNSKFTPGKVEFCLGTEEMHMPTPPDLSQENFRVFSSVEK
FT SKLPSSQLGLVISSYYQTI (in isoform 2)"
FT /id="VSP_058120"
FT CONFLICT 14
FT /note="S -> F (in Ref. 3; BAC35315)"
FT /evidence="ECO:0000305"
FT CONFLICT 94
FT /note="K -> R (in Ref. 3; BAC35315)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3106 AA; 353760 MW; 77DBF017CCCBA7F3 CRC64;
MASSRSSSSS SEESPDSETS VSPVHLPPTP PPTSTAVLKS PSESKSSSTD PPQCTHSEDS
LPSAAFYGPL DSKNPLLASC EKEIRELLGF MKKKKALATS MEQKYEFHRR CATTLFNIWT
KYAPRLPSNY YNEKLLKVGD SLCQIKEYKL ALLQCYGRYL QEFIADFDEH KEDVNHFKTV
FFPKGFGDET ARLTFHALSG KNICNYQLVC ESDANLQNEE SVRQCLHILS SFRLIMQVAL
PQEHLCWIIF NGTLYIYTIC RKLMVIGQSS KALEFLLWAS MCMESSVPLL SIRYLTWRAT
LYTAVCQCHY DCQDGIHGEA FARRALAKID ELRQLELMSS SSSLETSRKY YREATIKMAV
MIFKRGVFES RRKNKNVLRP KLRLNLKEAQ SLPWPRTVTE RLLDELLDST SSRFLAVLEA
LSDSNRRILQ TGPLVTDEME LRDVVSELFM AGKELLILSN VRSNGKLDFP QTSLLEHVVE
KRNALSVGAS VRFAKLAFTY EEWGLFESLA GQLIHFLQKQ DNPQSKKAEK DLILLLAVEP
LINVKRNRGL IFPLETDKET QSIENYLKHI ACHESCMRTT FTEDTFSLAA ILHFCVCVPT
QGVLPDKDIV VDIIGLLWQR CKLGIQRLNI PKNDFAKYSH KISTNKWVYL LWQISEVIHC
YKLEDLDIVM VAEITLRLSE ILESLGSPKR KFKKSADLSA KKGPDELPGT SKGVPEILPI
LKRAPVEQLF YAYELLDKAI IGMSWKCMLT TLSDGSSVID HCYVKDSQDV DGDTYKPIAS
NSYTMDLHLE LIQAQHRIAV VLLDQLEVLQ APTVSTNTPA KGWEKVKKPR STECFTELTV
MKKIKKNKLS KAIYLMQKAL LLFEKDAVCE TSRNLLMEAN ALIEKVEAEQ NALYSYQKFL
GSSKIKKSRI PPPPILLART HCSVTLKPAP FISEVKASWY CILGCKADGS YGKVRLNNNH
LPNSGEAIPA DGRSFFEIKG LETNAQYCFA IAAYSSSGKL IGDAIGETTK PILIYPPLSA
VTARMYLTQV AYQIGNYEMA KKVFSPVWDY FVASPLPDEQ SVICLSNIMT ITQKRLHSNI
LADTSSILLY LFLRNIFVMS DIKIKEENLF CDNIKGNEIF PAQQVARLVE CENVLVALEL
SNFLNDANFA LQAVTQCYGL LAPIIYHNIV LVPVIQILIK CIVVLQGIPS IIHSKKNISS
FESIQHMIAC CIFYMTKILR SWKEYDLAIM LINYGKKMLD ITSGCRSLFG IEQEETAEEG
VCSKKTSRTK KPQQVLLPEK INEQLALLET HLLKTTKQIN SAELSGSEDP IFLYPIVLNW
TVKGAMKEVM KFKQRPRFLE FFTQIMLKCM NDEKFHLMVE ISAPVYDFLK RRNESLIGVK
RIKYKETVIS RRALKSPSKF KAIVIEIGKS SDLTRRRRKK KKTLKDFFYK NPSIFDMAEL
DRNKRTDVRK MAYRSLSDNL NPLILTYVRR KRFHQILLEE LPWRAQMNLY LANAHFHLFL
QKLTERTKER LGSSYSSVSF RSCDPNLFSL FHSGTVLPTA KLTVDSYNAM MDALTVSKKK
KHNQTTDTED LSVLFNSKSD DNIPKMKTQT IYESDSQLGI GVNVREKDRT LVWGLDHFMK
IFLCCRRAMV LAYRGGYWTL LQNCCRVFWN FSRELQILLK QTVASCKTFP VSQDNFLCIC
VLPFYLGAEL LIDMLIKLQS TNSIKPFEER GEFSIPSCYG NIKSDNGGSS LIFEHPLDDV
NVVDLRWIHD FVLKSLEVLY QVEKWETLVS LAIQFNIISH ERYTEQVTPL LVYAQRQLVQ
RIKELNGPEL SRQACARYEA ENGEKITCRN FIGKRLKIDS STPKNLAELQ GSSEPLKTLI
TSEQRLAKQL VSVPLDVNDT LRCFRETLEK SKYHNRSVRH SRKLLSLFLA QTQDVLQTSN
QRSLKVQSLH SLGSLLLFAD KKRAAFKCWS QALDDIFRKP DVLHNWKEFG TSLPGAPSSS
SPPGFKDYSE EFLSKFGIWG CLQAAMITAK IAQFIKTANV KKRINCCILS ALLFQSLLRT
TLPHPKAERN YAQYEITQLL PGIELFSDKF RADICSVIAS LYYVIRELHY AKYNLIVLPL
LALYQYFVSV ICQDIVRNLE ARILKIEILI DLGFFSEAFY ELFQIYHGKN MPCAIPAGYK
ATMKVKITQS FDSGKPLTHK DNMQALEELI NRGLPHILVN LGYQHLLNKF NFAKSHFFIS
LAATINCIPD PSPKIMYYQF ITERSKPTPQ NLKDNENSHG QFLRLRDDYN LNTIKSILLM
EAEEKVNSLL SETEHQCHRP LYLSSVLELE IMVEARLHLA AIALQRYRPA YSTAILYSTL
KLLQDSKVFK KKVPEESCSP TSPETSTTES KDDSEFLDPI SLNSREYFNI HLWLRCRLML
VTSFIAQIRG IGIMKESELT DCLSLIDEVC TEAKSADDTE VLAEFLMQAV VLGLQEKHFK
ADIIQKLKEI ISLLEGSEFL SPRSWLTLAK SLILMDDLTK AEKFKKASSK ENKLIFLNQA
HRILIAQMLT FGETIEFPLS DSDYASPLQP LKNIYLPHVM LLAKVKLRIG HTMAKQVCSS
SKKKDISKWL PVLHMFDMAL KVCKATAAEE YEVEAEILFQ KGRIERQMLM EEKTSIAHIE
SFFEAIQISL KNDQNSGLIR DSYLEIALVY FYLKKPKRKA SATTLKPLPR RHSSVKDPVA
TQTEMYSSLA WIAIRAAAQV SESVLGINLL IGKKRAMIDK VNNITLPNIP EFATVDLLSS
YTDYLLENYQ VVFQTSNSLM CENDDVYDCI DGRKRNLSKV DVTWILLIRY YIHLQRINNM
SKLLASATPV SGISLPDDTL LTSLYNSELI LRQKEMHLFL KRFLQLYSSS CIDGFPRELL
QGLENISLEK VLFESSGKVH RDSSLQSDLS GKLTVCPSYT EISSEMAVQA LNKELCFQWY
IPPLDKPLKD SEPMVLLLYA YNLKPLRILD IKVSTGNSLY VGTSWIPLRS VIAVHQKLSN
LAQIAEISLP SVPEVTSEEN IYETIEPEDK PIDTDLENMI LECCSEIEAL FSNNKDKDNE
PPPPMTKVPF DVSLPAIFSL ERLFDLANGC IVSVGSLFNW MVSIIQ
