CFA77_HUMAN
ID CFA77_HUMAN Reviewed; 320 AA.
AC Q6ZQR2; Q147X1;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Cilia- and flagella-associated protein 77 {ECO:0000305};
GN Name=CFAP77 {ECO:0000312|HGNC:HGNC:33776};
GN Synonyms=C9orf171 {ECO:0000312|HGNC:HGNC:33776};
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 1).
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 VARIANT [LARGE SCALE ANALYSIS] TRP-172.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q6ZQR2; P15884: TCF4; NbExp=3; IntAct=EBI-10255140, EBI-533224;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:A8IB22}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZQR2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZQR2-2; Sequence=VSP_032507;
CC -!- SIMILARITY: Belongs to the CFAP77 family. {ECO:0000305}.
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DR EMBL; AK128819; BAC87621.1; -; mRNA.
DR EMBL; AL353701; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354735; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW88003.1; -; Genomic_DNA.
DR EMBL; CH471090; EAW88004.1; -; Genomic_DNA.
DR EMBL; BC118593; AAI18594.1; -; mRNA.
DR EMBL; BC124555; AAI24556.1; -; mRNA.
DR CCDS; CCDS65167.1; -. [Q6ZQR2-2]
DR CCDS; CCDS6949.1; -. [Q6ZQR2-1]
DR RefSeq; NP_001269886.1; NM_001282957.1. [Q6ZQR2-2]
DR RefSeq; NP_997300.1; NM_207417.2. [Q6ZQR2-1]
DR AlphaFoldDB; Q6ZQR2; -.
DR SMR; Q6ZQR2; -.
DR BioGRID; 133276; 6.
DR IntAct; Q6ZQR2; 2.
DR STRING; 9606.ENSP00000343290; -.
DR iPTMnet; Q6ZQR2; -.
DR PhosphoSitePlus; Q6ZQR2; -.
DR BioMuta; CFAP77; -.
DR DMDM; 74710954; -.
DR MassIVE; Q6ZQR2; -.
DR PaxDb; Q6ZQR2; -.
DR PeptideAtlas; Q6ZQR2; -.
DR PRIDE; Q6ZQR2; -.
DR ProteomicsDB; 68087; -. [Q6ZQR2-1]
DR ProteomicsDB; 68088; -. [Q6ZQR2-2]
DR Antibodypedia; 18193; 26 antibodies from 9 providers.
DR DNASU; 389799; -.
DR Ensembl; ENST00000343036.6; ENSP00000343290.2; ENSG00000188523.9. [Q6ZQR2-1]
DR Ensembl; ENST00000393216.3; ENSP00000376909.2; ENSG00000188523.9. [Q6ZQR2-2]
DR GeneID; 389799; -.
DR KEGG; hsa:389799; -.
DR MANE-Select; ENST00000393216.3; ENSP00000376909.2; NM_001282957.2; NP_001269886.1. [Q6ZQR2-2]
DR UCSC; uc004cbn.5; human. [Q6ZQR2-1]
DR CTD; 389799; -.
DR DisGeNET; 389799; -.
DR GeneCards; CFAP77; -.
DR HGNC; HGNC:33776; CFAP77.
DR HPA; ENSG00000188523; Group enriched (choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q6ZQR2; -.
DR OpenTargets; ENSG00000188523; -.
DR PharmGKB; PA164717530; -.
DR VEuPathDB; HostDB:ENSG00000188523; -.
DR eggNOG; ENOG502S0WI; Eukaryota.
DR GeneTree; ENSGT00390000014476; -.
DR HOGENOM; CLU_060116_0_0_1; -.
DR InParanoid; Q6ZQR2; -.
DR OMA; QQPTCPQ; -.
DR OrthoDB; 1242387at2759; -.
DR PhylomeDB; Q6ZQR2; -.
DR TreeFam; TF329723; -.
DR PathwayCommons; Q6ZQR2; -.
DR SignaLink; Q6ZQR2; -.
DR BioGRID-ORCS; 389799; 24 hits in 1052 CRISPR screens.
DR ChiTaRS; CFAP77; human.
DR GenomeRNAi; 389799; -.
DR Pharos; Q6ZQR2; Tdark.
DR PRO; PR:Q6ZQR2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6ZQR2; protein.
DR Bgee; ENSG00000188523; Expressed in right uterine tube and 55 other tissues.
DR ExpressionAtlas; Q6ZQR2; baseline and differential.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR InterPro; IPR029147; CFAP77.
DR PANTHER; PTHR28617; PTHR28617; 1.
DR Pfam; PF14825; DUF4483; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Reference proteome.
FT CHAIN 1..320
FT /note="Cilia- and flagella-associated protein 77"
FT /id="PRO_0000325973"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 11..25
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 67..102
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032507"
FT VARIANT 137
FT /note="G -> R (in dbSNP:rs7047726)"
FT /id="VAR_039959"
FT VARIANT 172
FT /note="R -> W (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs149346027)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_039960"
FT VARIANT 184
FT /note="R -> H (in dbSNP:rs11243798)"
FT /id="VAR_039961"
FT VARIANT 244
FT /note="K -> Q (in dbSNP:rs34650498)"
FT /id="VAR_062164"
SQ SEQUENCE 320 AA; 36499 MW; 1625636B9E0E8385 CRC64;
MPEARSSGPD LTRWRKQQQP VRRTVSQVCP PPRRPLTVAD IRSGMENERL GVVRDSMFQN
PLIVKAAGPA SVGTSYSVYD SSAVQKVIPS LAGHHIKGGP QAELGKPRER SYSLPGINFN
YGLYIRGLDG GVPEAIGRWN VFKQQPTCPH ELTRNYIAMN RGAVKAGLVT ARENLLYRQL
NDIRISDQDD RRMKKEPPPL PPNMTFGIRA RPSTPFFDLL QHRYLQLWVQ EQKATQKAIK
LEKKQKVVLG KLYETRSSQL RKYKPPVKLD TLWHMPHFQK VGRHLDTFPT EADRQRALKA
HREECAVRQG TLRMGNYTHP
