CFA65_CHICK
ID CFA65_CHICK Reviewed; 1775 AA.
AC F1P4W9; I6WQT8;
DT 05-OCT-2016, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2013, sequence version 2.
DT 03-AUG-2022, entry version 46.
DE RecName: Full=Cilia- and flagella-associated protein 65 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 108 {ECO:0000303|PubMed:22761584};
GN Name=CFAP65 {ECO:0000250|UniProtKB:Q6ZU64};
GN Synonyms=CCDC108 {ECO:0000303|PubMed:22761584};
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, DISRUPTION PHENOTYPE, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=22761584; DOI=10.1371/journal.pgen.1002775;
RA Imsland F., Feng C., Boije H., Bed'hom B., Fillon V., Dorshorst B.,
RA Rubin C.J., Liu R., Gao Y., Gu X., Wang Y., Gourichon D., Zody M.C.,
RA Zecchin W., Vieaud A., Tixier-Boichard M., Hu X., Hallbook F., Li N.,
RA Andersson L.;
RT "The Rose-comb mutation in chickens constitutes a structural rearrangement
RT causing both altered comb morphology and defective sperm motility.";
RL PLoS Genet. 8:E1002775-E1002775(2012).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Red jungle fowl;
RX PubMed=15592404; DOI=10.1038/nature03154;
RA Hillier L.W., Miller W., Birney E., Warren W., Hardison R.C., Ponting C.P.,
RA Bork P., Burt D.W., Groenen M.A.M., Delany M.E., Dodgson J.B.,
RA Chinwalla A.T., Cliften P.F., Clifton S.W., Delehaunty K.D., Fronick C.,
RA Fulton R.S., Graves T.A., Kremitzki C., Layman D., Magrini V.,
RA McPherson J.D., Miner T.L., Minx P., Nash W.E., Nhan M.N., Nelson J.O.,
RA Oddy L.G., Pohl C.S., Randall-Maher J., Smith S.M., Wallis J.W.,
RA Yang S.-P., Romanov M.N., Rondelli C.M., Paton B., Smith J., Morrice D.,
RA Daniels L., Tempest H.G., Robertson L., Masabanda J.S., Griffin D.K.,
RA Vignal A., Fillon V., Jacobbson L., Kerje S., Andersson L.,
RA Crooijmans R.P., Aerts J., van der Poel J.J., Ellegren H., Caldwell R.B.,
RA Hubbard S.J., Grafham D.V., Kierzek A.M., McLaren S.R., Overton I.M.,
RA Arakawa H., Beattie K.J., Bezzubov Y., Boardman P.E., Bonfield J.K.,
RA Croning M.D.R., Davies R.M., Francis M.D., Humphray S.J., Scott C.E.,
RA Taylor R.G., Tickle C., Brown W.R.A., Rogers J., Buerstedde J.-M.,
RA Wilson S.A., Stubbs L., Ovcharenko I., Gordon L., Lucas S., Miller M.M.,
RA Inoko H., Shiina T., Kaufman J., Salomonsen J., Skjoedt K., Wong G.K.-S.,
RA Wang J., Liu B., Wang J., Yu J., Yang H., Nefedov M., Koriabine M.,
RA Dejong P.J., Goodstadt L., Webber C., Dickens N.J., Letunic I., Suyama M.,
RA Torrents D., von Mering C., Zdobnov E.M., Makova K., Nekrutenko A.,
RA Elnitski L., Eswara P., King D.C., Yang S.-P., Tyekucheva S.,
RA Radakrishnan A., Harris R.S., Chiaromonte F., Taylor J., He J.,
RA Rijnkels M., Griffiths-Jones S., Ureta-Vidal A., Hoffman M.M., Severin J.,
RA Searle S.M.J., Law A.S., Speed D., Waddington D., Cheng Z., Tuzun E.,
RA Eichler E., Bao Z., Flicek P., Shteynberg D.D., Brent M.R., Bye J.M.,
RA Huckle E.J., Chatterji S., Dewey C., Pachter L., Kouranov A.,
RA Mourelatos Z., Hatzigeorgiou A.G., Paterson A.H., Ivarie R., Brandstrom M.,
RA Axelsson E., Backstrom N., Berlin S., Webster M.T., Pourquie O.,
RA Reymond A., Ucla C., Antonarakis S.E., Long M., Emerson J.J., Betran E.,
RA Dupanloup I., Kaessmann H., Hinrichs A.S., Bejerano G., Furey T.S.,
RA Harte R.A., Raney B., Siepel A., Kent W.J., Haussler D., Eyras E.,
RA Castelo R., Abril J.F., Castellano S., Camara F., Parra G., Guigo R.,
RA Bourque G., Tesler G., Pevzner P.A., Smit A., Fulton L.A., Mardis E.R.,
RA Wilson R.K.;
RT "Sequence and comparative analysis of the chicken genome provide unique
RT perspectives on vertebrate evolution.";
RL Nature 432:695-716(2004).
CC -!- FUNCTION: Plays a role in flagellar formation and sperm motility.
CC {ECO:0000269|PubMed:22761584}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250|UniProtKB:Q3V0B4}; Single-pass membrane protein
CC {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q3V0B4}. Cytoplasmic
CC vesicle, secretory vesicle, acrosome membrane
CC {ECO:0000250|UniProtKB:Q6ZU64}; Single-pass type I membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=F1P4W9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=F1P4W9-2; Sequence=VSP_058527, VSP_058528, VSP_058529,
CC VSP_058530;
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:22761584}.
CC -!- DISRUPTION PHENOTYPE: Loss of the expression of CFAP65 in testis which
CC is associated with an inversion breakpoint into intron 3 of the gene
CC may be responsible for the infertility associated with the Rose-comb
CC trait. {ECO:0000269|PubMed:22761584}.
CC -!- SIMILARITY: Belongs to the CFAP65 family. {ECO:0000305}.
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DR EMBL; JN880446; AFN41354.1; -; mRNA.
DR EMBL; JN880447; AFN41355.1; -; mRNA.
DR EMBL; AADN03005254; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADN03005350; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; F1P4W9; -.
DR STRING; 9031.ENSGALP00000018500; -.
DR PaxDb; F1P4W9; -.
DR Ensembl; ENSGALT00000070915; ENSGALP00000054328; ENSGALG00000034212. [F1P4W9-1]
DR Ensembl; ENSGALT00000106221; ENSGALP00000071144; ENSGALG00000034212. [F1P4W9-2]
DR VEuPathDB; HostDB:geneid_424206; -.
DR eggNOG; ENOG502QSJW; Eukaryota.
DR GeneTree; ENSGT00430000031142; -.
DR HOGENOM; CLU_000944_1_0_1; -.
DR InParanoid; F1P4W9; -.
DR OMA; ASFYSMD; -.
DR OrthoDB; 1127899at2759; -.
DR TreeFam; TF329056; -.
DR PRO; PR:F1P4W9; -.
DR Proteomes; UP000000539; Chromosome 7.
DR Bgee; ENSGALG00000034212; Expressed in testis and 7 other tissues.
DR ExpressionAtlas; F1P4W9; baseline and differential.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 8.
DR InterPro; IPR031549; ASH.
DR InterPro; IPR013783; Ig-like_fold.
DR Pfam; PF15780; ASH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoplasmic vesicle; Flagellum;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..1775
FT /note="Cilia- and flagella-associated protein 65"
FT /id="PRO_0000437461"
FT TRANSMEM 84..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 1331..1460
FT /note="MSP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00132"
FT REGION 1627..1672
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1632..1649
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..96
FT /note="Missing (in isoform 2)"
FT /id="VSP_058527"
FT VAR_SEQ 1461
FT /note="R -> RAEKKPRPPAGRSSDSA (in isoform 2)"
FT /id="VSP_058528"
FT VAR_SEQ 1741..1747
FT /note="SLARLRS -> RIASPAP (in isoform 2)"
FT /id="VSP_058529"
FT VAR_SEQ 1748..1775
FT /note="Missing (in isoform 2)"
FT /id="VSP_058530"
SQ SEQUENCE 1775 AA; 197765 MW; 0894182FC668CB33 CRC64;
MLAEVQGDPP NPDPLRRRCC GCARKPSSRK AQKKGTFWGI EVAETLQWRG WELGKEVIKH
LVLKNVHEKT QKLSYRCPST RFFITVFPQP IALSPGMSLT LPVIFRPTEK RDYEDSICFQ
KAEGEFSVTL RAVLPHPCLS FPAAVQLPLC AVHSATETTF TVRNVGDLTT VFAWETPSPF
SMTPEHGVLS VGAECTVKVL FQPKAAAVCN VIATCWFGVE EKQKRTMQLR AQAKYPYLQV
NVPGEQHKGA QPGKLQDVLC FGSVPVGTSV EKCVEILNMS AVDAPCMIER AKDPLLQDHV
FSCDVSHAVV PAKGKLALCI RFQPQAVGEH STDYFTVTPT GCLQQTVLKM VGSCKGPLVS
LHQSSVDFDW INLGESSTQM LKISNVSDVP AYYQFDIDGR GSVFSLDRPC GVLEGTTTLV
LKVTFRPAHP ISYHRRVVCL VHHQEPLYVD FFGTCHSDTA KPAILQARHL SWYRTNTVRG
LTFYPPDILS VMLKDGKLLM DEKRALMLLP EIPLDKPPKE YTEASSMSEY FYDGISSDLA
LFPPHVSVSP REHDFGRCVP LCKAEPLPLC VTNHTKGKIT VAWTPSYGSA FQVTPESCDI
PPLKSSAFRV LFQPTQLNSL YAAELEGFAF YKVLRQYSNI EEDATICPPW CLTIRLRAHT
YEAKREHFIP QYLLDVPKTF PPVASDTDTY CSALLSNTGT SMITFSVNQA ACPSVLVKPH
SGHIMPGGHQ IFFLSTRPVN TVSQQHILPL QLNSYPGYTK EIVLRSCAES LLLLLEGDGK
LYFKPVCIGT SSTQRYTIKN CTRLPMAFTW KIHLSDSKLL SVRPAAGLLQ PYEAMAQAWT
FTPDNVTKYL LRAVVFVGWE SPAPVSPQSI HYNLRIIGEG ALGTIRAQKE HMDLGNVLVG
NLKDCSMVLL NDGICSLQYI LSVEQLITGL CDPEEVCSDP MALELEHSRG TIPARSKAFV
RVTVRPARQL HYTWSISYAI CTPAVPDLAS TKAEQHPLCC IEATGVHPTI RIAAACSAGS
ASGISRLLLW RLLSLDTLNE YLQRDPAPSE LTYRVPTRHS TCLIPPIYTP LQLDFNFGAA
PIGSEPALVM LLLVNNGVVP VEWAFLFPSD QKMDMEHWAE DANLSPRELH QMRIQDNQLF
SVSPKSGKLL PGQEEAVQLS HRHDFVGTDH LPVLLKASYG HEILLNFRGV TVEKEQRYVH
FASSKHLLTP IAIGTSHPPV QIYELYNGGS TTVMFEVQLD SITRVQKDNY QHPVFICLTP
RGEIAPGTTG HIEWIFSPLE ARTYLVDVPI HILGGDSALI TFQGEGYDPK ATGESATFRE
VLSPSVLLGS TKLTVPGQAA SLSHHRICFG NIPDRTRASR LVFLNNISED KAVVFTWRTG
SVKDNEVLQI APEQGVVQPR GSTPCFITLQ PSGRVSLYSA DLVCEVYIQE SLVQYERDLQ
EWEREKERQA VEFTITEQDL RETAHLCEPS AVVRKYKTLP PVKNHPAANQ PAGHLQRRLL
SSKEASHVWV KPEPPRPILL HLDVTARSHS TEDFFSNFTS EFPKYFLPRP SIHQVLFVDG
SVDRNRMEKD PEWLSLATAS KEELQIVTDL LIGVIRDLLE NTQFHDAVRR SLQEPIPYFS
QFQREETAKT QHRGQCSTIP SSLSASPDLF TEENGERKET SQESSPSNDV LGSWEGLSEV
LRHEQLREQK MMMKRQPAFG SLVEMVLENT LQNILVEASC GEVVLTAQPK VIALPPRPFR
SLARLRSQCQ GCLCRREVAA DCSLLTPKAI SSLSE
