CFA54_HUMAN
ID CFA54_HUMAN Reviewed; 3096 AA.
AC Q96N23; E9PJL5; Q6ZTY8;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-FEB-2015, sequence version 3.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Cilia- and flagella-associated protein 54 {ECO:0000305};
GN Name=CFAP54 {ECO:0000312|HGNC:HGNC:26456};
GN Synonyms=C12orf55 {ECO:0000312|HGNC:HGNC:26456},
GN C12orf63 {ECO:0000312|HGNC:HGNC:26456};
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Teratocarcinoma, 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).
CC -!- FUNCTION: Required for assembly and function of cilia and flagella.
CC {ECO:0000250|UniProtKB:Q8C6S9}.
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=Q96N23-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96N23-2; Sequence=VSP_057365, VSP_057366;
CC -!- MISCELLANEOUS: [Isoform 1]: Gene prediction based on partial mRNA data.
CC -!- MISCELLANEOUS: [Isoform 2]: Incomplete sequence. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the CFAP54 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86439.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC007513; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007564; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008118; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK056076; BAB71089.1; -; mRNA.
DR EMBL; AK126100; BAC86439.1; ALT_INIT; mRNA.
DR CCDS; CCDS76588.1; -. [Q96N23-1]
DR RefSeq; NP_001293013.1; NM_001306084.1. [Q96N23-1]
DR IntAct; Q96N23; 2.
DR STRING; 9606.ENSP00000431759; -.
DR iPTMnet; Q96N23; -.
DR PhosphoSitePlus; Q96N23; -.
DR BioMuta; CFAP54; -.
DR DMDM; 296434452; -.
DR MassIVE; Q96N23; -.
DR PaxDb; Q96N23; -.
DR PeptideAtlas; Q96N23; -.
DR PRIDE; Q96N23; -.
DR ProteomicsDB; 21180; -.
DR ProteomicsDB; 68299; -.
DR ProteomicsDB; 77458; -. [Q96N23-1]
DR Antibodypedia; 50190; 5 antibodies from 5 providers.
DR Ensembl; ENST00000524981.9; ENSP00000431759.5; ENSG00000188596.11. [Q96N23-1]
DR GeneID; 144535; -.
DR KEGG; hsa:144535; -.
DR MANE-Select; ENST00000524981.9; ENSP00000431759.5; NM_001306084.2; NP_001293013.1.
DR UCSC; uc058sav.1; human.
DR CTD; 144535; -.
DR DisGeNET; 144535; -.
DR GeneCards; CFAP54; -.
DR HGNC; HGNC:26456; CFAP54.
DR HPA; ENSG00000188596; Tissue enhanced (brain, choroid plexus).
DR neXtProt; NX_Q96N23; -.
DR OpenTargets; ENSG00000188596; -.
DR VEuPathDB; HostDB:ENSG00000188596; -.
DR eggNOG; ENOG502QVDY; Eukaryota.
DR GeneTree; ENSGT00940000162446; -.
DR HOGENOM; CLU_000333_0_0_1; -.
DR InParanoid; Q96N23; -.
DR OrthoDB; 31951at2759; -.
DR PhylomeDB; Q96N23; -.
DR TreeFam; TF328826; -.
DR PathwayCommons; Q96N23; -.
DR SignaLink; Q96N23; -.
DR BioGRID-ORCS; 144535; 3 hits in 148 CRISPR screens.
DR ChiTaRS; CFAP54; human.
DR GenomeRNAi; 144535; -.
DR Pharos; Q96N23; Tdark.
DR PRO; PR:Q96N23; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96N23; protein.
DR Bgee; ENSG00000188596; Expressed in right uterine tube and 107 other tissues.
DR ExpressionAtlas; Q96N23; baseline and differential.
DR Genevisible; Q96N23; HS.
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; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0060294; P:cilium movement involved in cell motility; ISS:UniProtKB.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0120197; P:mucociliary clearance; IEA:Ensembl.
DR GO; GO:0120316; P:sperm flagellum assembly; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; ISS: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..3096
FT /note="Cilia- and flagella-associated protein 54"
FT /id="PRO_0000324606"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1248..1267
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 2761..2772
FT /note="DNYQVLFQTSCT -> GMFGCLHIMQKN (in isoform 2)"
FT /id="VSP_057365"
FT VAR_SEQ 2773..3096
FT /note="Missing (in isoform 2)"
FT /id="VSP_057366"
FT VARIANT 11
FT /note="P -> S (in dbSNP:rs3809197)"
FT /id="VAR_056834"
FT VARIANT 558
FT /note="T -> A (in dbSNP:rs2160501)"
FT /id="VAR_056835"
FT VARIANT 562
FT /note="L -> F (in dbSNP:rs2160502)"
FT /id="VAR_056836"
FT CONFLICT 233
FT /note="V -> A (in Ref. 2; BAB71089)"
FT /evidence="ECO:0000305"
FT CONFLICT 1672
FT /note="L -> F (in Ref. 2; BAC86439)"
FT /evidence="ECO:0000305"
FT CONFLICT 2168
FT /note="L -> P (in Ref. 2; BAC86439)"
FT /evidence="ECO:0000305"
FT CONFLICT 2241
FT /note="E -> K (in Ref. 2; BAC86439)"
FT /evidence="ECO:0000305"
FT CONFLICT 2365
FT /note="S -> N (in Ref. 2; BAC86439)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3096 AA; 351970 MW; A36A8FF3D80354CF CRC64;
MAAQGSPSSS PSDDSTTSGS LPELPPTSTA TSRSPPESKG SSRSSLLQWT CPEDSLPLAV
FYGPLDAKNP LLASCEKEIQ ELLGFMRKKK ALATTEEEKH EFRRRCATSL FNIWTKYAPR
LPADYYNEKL LKVGDSLCQM KEYKLALLQC YGRYLQQFNT NFDENKVDVT QFKATFFPKG
FKDKTAGLTF HALSGKNMCN YQLVCDSDEN LKNKESVVQC LHILSSLRLI MQVALPQEHL
CWIIFNGTIY IYTICRKLMV IGQSSKALEY LLWASMCMES LVPLLSLRYL TWRATLYTAV
CQCCYDCHAG IHGEAFARRA LAKIDELRQL ELMSSSKSQE ESRRYFREAT MKMAVMIFKR
GVFESRRKNK AVFRPKIRIN LREVQTLSWP RTVTERLLDE MFDSTASQFL AVLEALSDSN
RRILQTGPIV TDEVEIHDVV SELFMAGKEL LIMSNIGADG MLDFPKTSLL ELMIGRKDVI
SVDAAVKFIK LAFTYEEWSL FESSAVHLIY FLQRQDDPES KKAEKDLTLL IAMEPLINVK
RNKGLIFPLE NYKEGQSTQI YLKKIAVHDT CLKTCGYSED IFHLAATLYV CVCTAPQDVQ
PDKEIVVDTI MFLWQKCKLG IQRLNISRND YAKFTQKIST NKWIYLLWQI NEVIHCYKME
DIDIVVVAEV TLRLSEILES LGSPGRKFKQ SLDVPLREGT NKFPGAPKGI TEILPILQKN
PVEQLLFAYK LLDRAIGGIN LNCMLTSLPN GSSVIDHCYA KRTHHIDGDT YKPLASNSFM
MDLHLELIQA QHRIAVVLLD KLQVLQTPTV SKDISTKGPE KLKQSGSTDC FTELNIMNKI
KKNTLSKAIY LMQKALLIFE KDATSTSSWE LLMEAYSLIQ RIEAEQNALY SYQKYLESSK
RKKSRVPPPP ILLSRTHCSV TLKPAPFTSE VKVSWYCILG CKAEGSYGKV RLNNNHLPNS
GEAIPADGKS VFEVKGLETN EKYVFAVAAY SNNGKLVGGA IGETTKPILV YPPLSTITAR
MFLTQVAYQV GNYELAKKVF SPVWDYFVAS PLQDEQSVIC LSNIITITQR RLHSDILAET
SSILLYLFLR NIFVTSDIKI KEENLFCDNI KGNEIFPSQQ IARLIECERV LVALELSNFL
NDSSYALQAV TQCYGLLAPI IYHNIVLVPV VQILIKCIVV LQGLPSIVCS KKHTASFESI
QHMIACCIFY ITKILRSWRE YDLAVMIINY GKKMLDITPG CKSLFDGSNE QEEMPEEDSS
KKSLKTKKPQ QILLPEKINE QLALLETHLL KLTKQYVTSE LSGGEDPIFL YPVVLNWSVK
GAVKEVMKFK QKPRFLEFFT QVMLKCMNEE KFHLMVEVTT PVHDFLKRRN ESLLGLIKVK
YKDSALNKKA NKSLKFKAAV MEIGRSAEMQ QRIRSKKKET LRDFIFKNPA ISEMVAHERN
RRTSVRKAAQ RYLMDYLNPL ILSYVKRKRF HRLSLEEMPW RAQMNLYLAG AHFNLVLQKL
WECTKMKFGT SHMMVSFRSC DPNMFSLYNS GTVLPTRKLT VENYKAMLDF LLTAKKRKAN
LPSDAEEFST FINSIMSDEN MSKTQTVYDS DSQSGSSAKE KDRGANLCVM DHFMKIFLYC
RRAMVLAHRG GYWTLLQNCC RALWNFTQEL QILLKQAVDL DKTFPISQDG FLCTSVLPFY
LGAELLIDML IQLQNTSSIK PIEDKGEFSV PSCYGNIKND NGGSSLTFEH PLDDVNVVDL
KWIHDFVLKS LEVLYQVEKW ETLVSLAIQF NTVSHERYTE QVTPLLVYAQ RQLLLRIQKF
KGPDITQQPC ARYEAEYGEK ITCRNFIGKQ LKINSSTIEA TSNCTDLLKM LISSEYSRAK
ALVCVPVDVT DTLRCFRETL EKSKYHNRSI RHSRKLLSLF LAQTQDVLQA SNQRSLKVQA
LHSLGSLLIF AEKKRAAFKC WCQALDDIFR KPDVLHTWKE FGPSLTNVTN SHSPPGFKDY
SEEFLSRVGI WGCLQGAVIS AKIAQFIKSL NVEKKTDCCI LSALLFQGLL RTTLPHPKAE
RCYAQYEITQ LLPGIELFSD RYRADICSVI ASLYYIIREL HFVRQNLIVL PLLALYQYFV
SGICQDITRN LEARILKIEV LIDLRFFSEA FYEISQIFYG KNMPCPIPAG YKATGKMKIF
QSFDSGKLLT SKENIQAIDE LRNKGLPAVL VTIGQPHLLN KFNFVKAYFF LSVAATINCV
PENKFKTVIT NKSKPNLPNL EEIYSKDDGS SFYNLTKLKD EITLSMLKSM LLMEAEDRLN
FLLSEVEQKT LSQCSAGELE IVVEARLQLA AVALQRHRAA YSAAIVFSTL TLLQDSKLFE
KKVVQDDTEN PVSPGTSVTE NKDDSEFLDP ISLNAREYFN IHLWLRCRLA LVTAFVAQIH
GIGIVKEDDM TDCLSLINEV CMEAKSAGDT ELQAEFLTQA VILGLQEKHL KADIMTNLQD
IIHLLEGNEF ISPQSRLTLA RSLVLLDDLT KAEKFKESPS SKTGKLNLLT RAHSILTEQM
LAFGETIEFR SSNTKYANPL QPLKNIYLPH VMLLAKIKMR IGHTVAKQVY YKNKRKDPSK
WLPALHLFDV ALKLCRTTAV EEHEVEAEIL FQKGKIERQI LMEEKSPSFQ LESLYEAIQL
SLKNDQNSGL IRDSYLEMAL LYFHLKKPKI KISGSPLTLK PPLRRSSSVK ETSANKFEMY
SSLAWIAIRA AAQVSEAVLA INLLIGKKNT RMHKVNQVAL PNIPEFAALD LLSSYTDYLL
DNYQVLFQTS CTFLYQNDDV CDSADGRKKT QTKVDITWIL LLRYYIHLQR INNLSKLLAS
ATPVSGISLP DDTLLTSLYN SELILRQKEV HFFLKKFLQL YSSSCIDEFP KELLCQLENP
PLSEKDLRES SAKLYRDSSV QSILSFKPVS GSSCVDITPI EMVTQASNKE LCFQWYIPPL
DRPPKETEPM VLLLYAYNLK PLKISDVRHS TYNSTCVGSL WIPLNRVIAI HEKLSNLAQI
AELSLPAAPE ITSNENIYEV EVEEESVDNE MEDMIIQCCS EIASLFLNDK EPTPLSEVPF
DISLPSIFNL ERLFDLANGC ILSGGSLFNW IVSIIP
