CFA58_HUMAN
ID CFA58_HUMAN Reviewed; 872 AA.
AC Q5T655; D3DRA6; Q8NA27;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Cilia- and flagella-associated protein 58 {ECO:0000312|HGNC:HGNC:26676};
DE AltName: Full=Coiled-coil domain-containing protein 147 {ECO:0000305};
GN Name=CFAP58 {ECO:0000312|HGNC:HGNC:26676};
GN Synonyms=C10orf80 {ECO:0000312|HGNC:HGNC:26676},
GN CCDC147 {ECO:0000312|HGNC:HGNC:26676};
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-550.
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SPGF49, VARIANTS SPGF49
RP 566-GLN--PHE-872 DEL; 698-ARG--PHE-872 DEL AND 758-TYR--PHE-872 DEL, AND
RP CHARACTERIZATION OF VARIANTS SPGF49 698-ARG--PHE-872 DEL AND
RP 758-TYR--PHE-872 DEL.
RX PubMed=32791035; DOI=10.1016/j.ajhg.2020.07.010;
RA He X., Liu C., Yang X., Lv M., Ni X., Li Q., Cheng H., Liu W., Tian S.,
RA Wu H., Gao Y., Yang C., Tan Q., Cong J., Tang D., Zhang J., Song B.,
RA Zhong Y., Li H., Zhi W., Mao X., Fu F., Ge L., Shen Q., Zhang M.,
RA Saiyin H., Jin L., Xu Y., Zhou P., Wei Z., Zhang F., Cao Y.;
RT "Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and
RT mitochondrial sheath defects and asthenoteratozoospermia in humans and
RT mice.";
RL Am. J. Hum. Genet. 107:514-526(2020).
RN [6]
RP VARIANTS SPGF49 LEU-108; TRP-619; CYS-628 AND SER-674, AND SUBCELLULAR
RP LOCATION.
RX PubMed=33314088; DOI=10.1111/cge.13898;
RA Sha Y., Sha Y., Liu W., Zhu X., Weng M., Zhang X., Wang Y., Zhou H.;
RT "Biallelic mutations of CFAP58 are associated with multiple morphological
RT abnormalities of the sperm flagella.";
RL Clin. Genet. 99:443-448(2021).
CC -!- FUNCTION: Has an essential role in the assembly and organization of the
CC sperm flagellar axoneme (PubMed:32791035). Required for the elongation
CC of the primary cilium and sperm flagellar midpiece via modulation of
CC the Notch signaling pathway (By similarity).
CC {ECO:0000250|UniProtKB:B2RW38, ECO:0000269|PubMed:32791035}.
CC -!- SUBUNIT: Interacts with ODFP2. {ECO:0000250|UniProtKB:B2RW38}.
CC -!- INTERACTION:
CC Q5T655; Q9BYV9: BACH2; NbExp=3; IntAct=EBI-10245749, EBI-1642333;
CC Q5T655; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-10245749, EBI-3044087;
CC Q5T655; P23508: MCC; NbExp=3; IntAct=EBI-10245749, EBI-307531;
CC Q5T655; Q8IVL1: NAV2; NbExp=3; IntAct=EBI-10245749, EBI-741200;
CC Q5T655; Q0D2K3: RIPPLY1; NbExp=3; IntAct=EBI-10245749, EBI-10226430;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:A8HUA1}. Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:32791035, ECO:0000269|PubMed:33314088}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome
CC {ECO:0000250|UniProtKB:B2RW38}. Note=Localized to the entire flagellum
CC and predominantly concentrated in the midpiece. Co-localizes with ODFP2
CC at the centrosome (By similarity). {ECO:0000250|UniProtKB:B2RW38,
CC ECO:0000269|PubMed:32791035}.
CC -!- DISEASE: Spermatogenic failure 49 (SPGF49) [MIM:619144]: An autosomal
CC recessive infertility disorder characterized by asthenoteratozoospermia
CC and multiple morphologic abnormalities of the sperm flagella, primarily
CC coiled and short flagella, with markedly reduced or absent motility.
CC {ECO:0000269|PubMed:32791035, ECO:0000269|PubMed:33314088}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the CFAP58 family. {ECO:0000305}.
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DR EMBL; AL162742; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355378; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49595.1; -; Genomic_DNA.
DR EMBL; BC036225; AAH36225.1; -; mRNA.
DR EMBL; BC109126; AAI09127.1; -; mRNA.
DR EMBL; AK093227; BAC04102.1; -; mRNA.
DR CCDS; CCDS31282.1; -.
DR RefSeq; NP_001008723.1; NM_001008723.1.
DR AlphaFoldDB; Q5T655; -.
DR SMR; Q5T655; -.
DR BioGRID; 127743; 15.
DR IntAct; Q5T655; 7.
DR STRING; 9606.ENSP00000358718; -.
DR iPTMnet; Q5T655; -.
DR PhosphoSitePlus; Q5T655; -.
DR BioMuta; CFAP58; -.
DR DMDM; 74745166; -.
DR EPD; Q5T655; -.
DR jPOST; Q5T655; -.
DR MassIVE; Q5T655; -.
DR MaxQB; Q5T655; -.
DR PaxDb; Q5T655; -.
DR PeptideAtlas; Q5T655; -.
DR PRIDE; Q5T655; -.
DR ProteomicsDB; 64567; -.
DR Antibodypedia; 48984; 104 antibodies from 15 providers.
DR DNASU; 159686; -.
DR Ensembl; ENST00000369704.8; ENSP00000358718.3; ENSG00000120051.15.
DR GeneID; 159686; -.
DR KEGG; hsa:159686; -.
DR MANE-Select; ENST00000369704.8; ENSP00000358718.3; NM_001008723.2; NP_001008723.1.
DR UCSC; uc001kyh.3; human.
DR CTD; 159686; -.
DR GeneCards; CFAP58; -.
DR HGNC; HGNC:26676; CFAP58.
DR HPA; ENSG00000120051; Group enriched (fallopian tube, testis).
DR MalaCards; CFAP58; -.
DR MIM; 619129; gene.
DR MIM; 619144; phenotype.
DR neXtProt; NX_Q5T655; -.
DR OpenTargets; ENSG00000120051; -.
DR PharmGKB; PA162381518; -.
DR VEuPathDB; HostDB:ENSG00000120051; -.
DR eggNOG; ENOG502QPV7; Eukaryota.
DR GeneTree; ENSGT00530000063534; -.
DR HOGENOM; CLU_006364_0_0_1; -.
DR InParanoid; Q5T655; -.
DR OMA; CQDDMRL; -.
DR OrthoDB; 1077673at2759; -.
DR PhylomeDB; Q5T655; -.
DR TreeFam; TF328680; -.
DR PathwayCommons; Q5T655; -.
DR SignaLink; Q5T655; -.
DR BioGRID-ORCS; 159686; 9 hits in 1072 CRISPR screens.
DR ChiTaRS; CFAP58; human.
DR GenomeRNAi; 159686; -.
DR Pharos; Q5T655; Tdark.
DR PRO; PR:Q5T655; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5T655; protein.
DR Bgee; ENSG00000120051; Expressed in oocyte and 105 other tissues.
DR ExpressionAtlas; Q5T655; baseline and differential.
DR Genevisible; Q5T655; HS.
DR GO; GO:0005813; C:centrosome; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; IMP:GO_Central.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:GO_Central.
DR GO; GO:0007219; P:Notch signaling pathway; ISS:UniProtKB.
DR GO; GO:0120229; P:protein localization to motile cilium; IMP:GO_Central.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:GO_Central.
DR GO; GO:0120316; P:sperm flagellum assembly; ISS:UniProtKB.
DR GO; GO:0120317; P:sperm mitochondrial sheath assembly; IMP:GO_Central.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW Cytoplasm; Cytoskeleton; Disease variant; Flagellum; Reference proteome.
FT CHAIN 1..872
FT /note="Cilia- and flagella-associated protein 58"
FT /id="PRO_0000274317"
FT COILED 106..595
FT /evidence="ECO:0000255"
FT COILED 642..839
FT /evidence="ECO:0000255"
FT VARIANT 108
FT /note="S -> L (in SPGF49; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:33314088"
FT /id="VAR_085546"
FT VARIANT 496
FT /note="S -> T (in dbSNP:rs11192036)"
FT /id="VAR_030255"
FT VARIANT 566..872
FT /note="Missing (in SPGF49)"
FT /evidence="ECO:0000269|PubMed:32791035"
FT /id="VAR_085209"
FT VARIANT 619
FT /note="R -> W (in SPGF49; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:33314088"
FT /id="VAR_085547"
FT VARIANT 628
FT /note="Y -> C (in SPGF49; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:33314088"
FT /id="VAR_085548"
FT VARIANT 674
FT /note="A -> S (in SPGF49; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:33314088"
FT /id="VAR_085549"
FT VARIANT 698..872
FT /note="Missing (in SPGF49; results in loss of mutant
FT protein; results in axonemal abnormalities)"
FT /evidence="ECO:0000269|PubMed:32791035"
FT /id="VAR_085210"
FT VARIANT 758..872
FT /note="Missing (in SPGF49; results in loss of mutant
FT protein; results in axonemal abnormalities)"
FT /evidence="ECO:0000269|PubMed:32791035"
FT /id="VAR_085211"
FT VARIANT 804
FT /note="Q -> H (in dbSNP:rs7087328)"
FT /id="VAR_030256"
SQ SEQUENCE 872 AA; 103417 MW; E4393742E91D81DD CRC64;
MAEEKGGKQV LEESAFEEME RDFQGVLHEL SGDKSLEKFR IEYERLHAVM KKSYDNEKRL
MAKCRELNAE IVVNSAKVAT ALKLSQDDQT TIASLKKEIE KAWKMVDSAY DKEQKAKETI
LALKEEIVNL TKLVEQGSGL SMDQHSNIRD LLRFKEEVTK ERDQLLSEVV KLRESLAQTT
EQQQETERSK EEAEHAISQF QQEIQQRQNE ASREFRKKEK LEKELKQIQA DMDSRQTEIK
ALQQYVQKSK EELQKLEQQL KEQKILNERA AKELEQFQMR NAKLQQENEQ HSLVCEQLSQ
ENQQKALELK AKEEEVHQMR LDIGKLNKIR EQIHKKLHHT EDQKAEVEQH KETLKNQIVG
LEREVEASKK QAELDRKAMD ELLRERDILN KNMLKAVNAT QKQTDLVKLH EQAKRNLEGE
IQNYKDEAQK QRKIIFHLEK ERDRYINQAS DLTQKVLMNM EDIKVRETQI FDYRKKIAES
EIKLKQQQNL YEAVRSDRNL YSKNLVEAQD EITDMKRKLK IMIHQVDELK EDISAKESAL
VKLHLEQQRI EKEKETLKAE LQKLRQQALE TKHFIEKQEA EERKLLRIIA EADGERLRQK
KELDQVISER DILGSQLVRR NDELALLYEK IKIQQSVLNK GESQYNQRLE DMRILRLEIK
KLRREKGILA RSMANVEELR QEFFHMQREL LKERTRCRAL EEELENPLNV HRWRKLEASD
PNAYELIQKI HTLQKRLISK TEEVVEKELL LQEKEKLYME LKHVLARQPG PEAAEQLKLY
RRTLHDKKQQ LKVLSSELNM YEVQSKEYKY EVEKLTNELQ NLKKKYLAQK RKEQLQKNKD
TAPMDNTFLM VKPNGPGFTG GGFPLRSTKM TF
