CFA61_HUMAN
ID CFA61_HUMAN Reviewed; 1237 AA.
AC Q8NHU2; A6NHA1; Q5JXV4; Q5TE18; Q8N5R9; Q96M59; Q9BQL2; Q9H127; Q9H128;
AC Q9NQH4; Q9UFV8; Q9Y4V7;
DT 28-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Cilia- and flagella-associated protein 61 {ECO:0000312|HGNC:HGNC:15872};
GN Name=CFAP61 {ECO:0000312|HGNC:HGNC:15872};
GN Synonyms=C20orf26 {ECO:0000312|HGNC:HGNC:15872};
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 6).
RC TISSUE=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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), AND VARIANTS
RP ARG-74 AND ILE-369.
RC TISSUE=Brain, 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 [5]
RP NUCLEOTIDE SEQUENCE OF 287-409 (ISOFORM 4).
RA Hillier L., Clark N., Dubuque T., Elliston K., Hawkins M., Holman M.,
RA Hultman M., Kucaba T., Le M., Lennon G., Marra M., Parsons J., Rifkin L.,
RA Rohlfing T., Soares M., Tan F., Trevaskis E., Waterston R., Williamson A.,
RA Wohldmann P., Wilson R.;
RT "The WashU-Merck EST project.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP VARIANT PRO-790.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: May regulate cilium motility through its role in the assembly
CC of the axonemal radial spokes. {ECO:0000250|UniProtKB:A8IF44,
CC ECO:0000250|UniProtKB:Q23F13}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A8IF44}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Comment=Experimental confirmation may be lacking for some isoforms.;
CC Name=1;
CC IsoId=Q8NHU2-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q8NHU2-3; Sequence=VSP_003799, VSP_003800;
CC Name=4;
CC IsoId=Q8NHU2-4; Sequence=VSP_003798;
CC Name=5;
CC IsoId=Q8NHU2-5; Sequence=VSP_003802, VSP_003803, VSP_003804;
CC Name=6;
CC IsoId=Q8NHU2-6; Sequence=VSP_003802, VSP_013682, VSP_013683;
CC -!- MISCELLANEOUS: [Isoform 5]: Created from a fragment entry and may await
CC further characterization. {ECO:0000305}.
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DR EMBL; AK057364; BAB71452.1; -; mRNA.
DR EMBL; AL117439; CAB55925.1; -; mRNA.
DR EMBL; AL035454; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL049648; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121721; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL161658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028708; AAH28708.2; -; mRNA.
DR EMBL; BC031674; AAH31674.1; -; mRNA.
DR CCDS; CCDS33447.1; -. [Q8NHU2-1]
DR CCDS; CCDS54452.1; -. [Q8NHU2-3]
DR RefSeq; NP_001161288.1; NM_001167816.1. [Q8NHU2-3]
DR RefSeq; NP_056400.3; NM_015585.3. [Q8NHU2-1]
DR RefSeq; XP_005260746.1; XM_005260689.2. [Q8NHU2-1]
DR RefSeq; XP_011527515.1; XM_011529213.1. [Q8NHU2-3]
DR AlphaFoldDB; Q8NHU2; -.
DR IntAct; Q8NHU2; 1.
DR MINT; Q8NHU2; -.
DR STRING; 9606.ENSP00000245957; -.
DR GlyGen; Q8NHU2; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q8NHU2; -.
DR PhosphoSitePlus; Q8NHU2; -.
DR BioMuta; CFAP61; -.
DR DMDM; 116241319; -.
DR MassIVE; Q8NHU2; -.
DR PaxDb; Q8NHU2; -.
DR PeptideAtlas; Q8NHU2; -.
DR PRIDE; Q8NHU2; -.
DR ProteomicsDB; 73753; -. [Q8NHU2-1]
DR ProteomicsDB; 73754; -. [Q8NHU2-3]
DR ProteomicsDB; 73755; -. [Q8NHU2-4]
DR ProteomicsDB; 73756; -. [Q8NHU2-5]
DR ProteomicsDB; 73757; -. [Q8NHU2-6]
DR Antibodypedia; 2276; 69 antibodies from 12 providers.
DR DNASU; 26074; -.
DR Ensembl; ENST00000245957.10; ENSP00000245957.5; ENSG00000089101.19. [Q8NHU2-1]
DR Ensembl; ENST00000377293.5; ENSP00000366508.1; ENSG00000089101.19. [Q8NHU2-5]
DR Ensembl; ENST00000377306.5; ENSP00000366521.1; ENSG00000089101.19. [Q8NHU2-3]
DR Ensembl; ENST00000377308.6; ENSP00000366523.2; ENSG00000089101.19. [Q8NHU2-6]
DR Ensembl; ENST00000389656.4; ENSP00000374307.3; ENSG00000089101.19. [Q8NHU2-5]
DR Ensembl; ENST00000451767.6; ENSP00000414537.2; ENSG00000089101.19. [Q8NHU2-3]
DR GeneID; 26074; -.
DR KEGG; hsa:26074; -.
DR MANE-Select; ENST00000245957.10; ENSP00000245957.5; NM_015585.4; NP_056400.3.
DR UCSC; uc002wru.4; human. [Q8NHU2-1]
DR CTD; 26074; -.
DR DisGeNET; 26074; -.
DR GeneCards; CFAP61; -.
DR HGNC; HGNC:15872; CFAP61.
DR HPA; ENSG00000089101; Tissue enhanced (choroid plexus, skeletal muscle, testis).
DR neXtProt; NX_Q8NHU2; -.
DR OpenTargets; ENSG00000089101; -.
DR PharmGKB; PA25741; -.
DR VEuPathDB; HostDB:ENSG00000089101; -.
DR eggNOG; ENOG502QSEC; Eukaryota.
DR GeneTree; ENSGT00390000004987; -.
DR HOGENOM; CLU_037088_0_0_1; -.
DR InParanoid; Q8NHU2; -.
DR OMA; HYLHITK; -.
DR OrthoDB; 38948at2759; -.
DR PhylomeDB; Q8NHU2; -.
DR TreeFam; TF323897; -.
DR PathwayCommons; Q8NHU2; -.
DR SignaLink; Q8NHU2; -.
DR BioGRID-ORCS; 26074; 9 hits in 1059 CRISPR screens.
DR ChiTaRS; CFAP61; human.
DR GenomeRNAi; 26074; -.
DR Pharos; Q8NHU2; Tdark.
DR PRO; PR:Q8NHU2; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8NHU2; protein.
DR Bgee; ENSG00000089101; Expressed in buccal mucosa cell and 108 other tissues.
DR ExpressionAtlas; Q8NHU2; baseline and differential.
DR Genevisible; Q8NHU2; HS.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0044782; P:cilium organization; ISS:UniProtKB.
DR Gene3D; 3.50.50.60; -; 2.
DR InterPro; IPR038884; CFAP61.
DR InterPro; IPR032151; CFAP61_N.
DR InterPro; IPR036188; FAD/NAD-bd_sf.
DR PANTHER; PTHR21178; PTHR21178; 1.
DR Pfam; PF16092; DUF4821; 1.
DR SUPFAM; SSF51905; SSF51905; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..1237
FT /note="Cilia- and flagella-associated protein 61"
FT /evidence="ECO:0000305"
FT /id="PRO_0000079417"
FT REGION 278..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 287..301
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..644
FT /note="Missing (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_003802"
FT VAR_SEQ 343..402
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_003798"
FT VAR_SEQ 463..470
FT /note="SINIRFAT -> NICLGRSS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_003799"
FT VAR_SEQ 471..1237
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_003800"
FT VAR_SEQ 835..844
FT /note="GNIIVYGNTI -> DGGRASVLFC (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_003803"
FT VAR_SEQ 845..1237
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_003804"
FT VAR_SEQ 933..964
FT /note="MFFSFCEKNVDYETFKALNDACLVYDSRLVID -> GAFFLGLTIICILPSL
FT PFQLPWRYKWHSLIMV (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013682"
FT VAR_SEQ 965..1237
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013683"
FT VARIANT 74
FT /note="P -> R (in dbSNP:rs17852602)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027981"
FT VARIANT 254
FT /note="H -> R (in dbSNP:rs6075614)"
FT /id="VAR_027982"
FT VARIANT 369
FT /note="V -> I (in dbSNP:rs6081901)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027983"
FT VARIANT 371
FT /note="P -> L (in dbSNP:rs6075628)"
FT /id="VAR_027984"
FT VARIANT 505
FT /note="D -> E (in dbSNP:rs7344530)"
FT /id="VAR_027985"
FT VARIANT 660
FT /note="P -> L (in dbSNP:rs6081930)"
FT /id="VAR_027986"
FT VARIANT 671
FT /note="V -> I (in dbSNP:rs6046740)"
FT /id="VAR_027987"
FT VARIANT 790
FT /note="T -> P"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069396"
FT CONFLICT 650
FT /note="N -> S (in Ref. 4; AAH31674)"
FT /evidence="ECO:0000305"
FT CONFLICT Q8NHU2-6:123
FT /note="L -> P (in Ref. 1; BAB71452)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1237 AA; 141349 MW; F10E9802BFAC8956 CRC64;
MSVLTSPRGK VEVVHCRRTE SQDVYCIKSL IRKFTCKLFG KLNIIYLLEK ANLAVTLCND
KEEIMAQATF LDYPNWNVAK QDDWVSVFRE LDSDIPCTPL NTLFMHLFVA VDEYSVGCCK
EILRTVYKAV PELHFIFLIV PSYMSLGSTL ITVFDQVGNI PCLTYEEDFA VHICHRHSHY
PQLHVRKARV EDHDDLMPIF MRYDTILKET YGEYFLAELI EAQDEENHAV VCEVEGTAVG
FMSVCSRVNM QLLHECFDLG PFHGLCFPHP DDVLESPQDL SVRRSQDAEL RSSSQGSQKI
VEELQEPVSP DTMENIQGNI AREAASEEAL TAVQSGNVSE PEDIEKLSDI STGYAQYHHV
SSRSLASLVL PEEPVHFRPI YRGASAAFCI QLFCIDEKYE ARSLDFMNFV FSLFSDKNFC
VISLPHLTPE FFLIQNFVKM VPFNTCTLEQ DLYVFHRAGL LKSINIRFAT LLDTPGVENL
VSTLMLNKSI LEDLDRYNKA RKDPDGTLLQ AFVAEVAEQI VGIAVIRNEM DIEYIRSHYN
IEDFIYFSHH QREEHGHMHH FALNPIFRHY TKFFLKEILR LGFKSCLYYR VYPKSREGKF
QNPYAHSLTS ALHYLVPVRP RRQIVYPLEK LGINAPSKAV SKDPMSYALN HTNRKLTLEP
KITVNAKIIV VGASSVGISF LETLVFCSHM KFNNLTLIST HGLPGKKLLD TEQRKFLASD
HCFNDKDYAL MSLCSWVNVV VGRMTGIDRA AKHVVLSTDE IVPYDHLILC TGQQYQVPCP
TEADISQHLT NREVPNSSQR RYTGKVPCNH FTLNEEEDCF KALIWIRNNS ITTEGNIIVY
GNTIDTYTTV ETLLNLGVSG SRIHLVQPPP ASTITCINNY SVESAVADAL GAAGVTMYRD
AILAQWNDGL HPDPIYSASF TTPTKPFRLQ CSMFFSFCEK NVDYETFKAL NDACLVYDSR
LVIDTNFHTN DIAIRAAGSL TKFSNRYYSN EWTHSNFSSK EIGFQLAAAM LHLFDPTLEP
VTEPPANLDR LIPMYKGAKI QGGILPGSYH YLHIAKPAIP TPLEVQMAQP NYGLELVTGS
AKNGTYFRIH INKYKMVETI TCLSREPFPA SNYIRLFGQH EQLLNNLCAR YDENLITDLY
SYFTEPWCLA LFHDRFIDLR KELRQILASK EEEDLPSIEQ LAHQIEDEEI NPTEKPRQYL
KRVFEESIYK TLVERSTLDY LHYNRYHLPM YAWPGIV
