CFA58_MOUSE
ID CFA58_MOUSE Reviewed; 873 AA.
AC B2RW38;
DT 04-MAR-2015, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 81.
DE RecName: Full=Cilia- and flagella-associated protein 58 {ECO:0000305};
GN Name=Cfap58 {ECO:0000312|MGI:MGI:2685815};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090 {ECO:0000312|EMBL:AAI47531.1};
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
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 [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INTERACTION WITH
RP ODFP2.
RX PubMed=31904090; DOI=10.1042/bsr20192666;
RA Li Z.Z., Zhao W.L., Wang G.S., Gu N.H., Sun F.;
RT "The novel testicular enrichment protein Cfap58 is required for Notch-
RT associated ciliogenesis.";
RL Biosci. Rep. 40:0-0(2020).
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 (PubMed:31904090).
CC {ECO:0000269|PubMed:31904090, ECO:0000269|PubMed:32791035}.
CC -!- SUBUNIT: Interacts with ODFP2. {ECO:0000269|PubMed:31904090}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:A8HUA1}. Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:31904090, ECO:0000269|PubMed:32791035}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome
CC {ECO:0000269|PubMed:31904090}. Note=Localized to the entire flagellum
CC and predominantly concentrated in the midpiece. Co-localizes with ODFP2
CC at the centrosome. {ECO:0000269|PubMed:31904090,
CC ECO:0000269|PubMed:32791035}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in the testis
CC (PubMed:32791035, PubMed:31904090). Also found at lower levels in
CC ciliated cells and tissues such as neural progenitor cells and oviducts
CC (PubMed:31904090). {ECO:0000269|PubMed:31904090,
CC ECO:0000269|PubMed:32791035}.
CC -!- DISRUPTION PHENOTYPE: Male mice are infertile with severely decreased
CC sperm motility and abnormal sperm flagellar morphology.
CC {ECO:0000269|PubMed:32791035}.
CC -!- SIMILARITY: Belongs to the CFAP58 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC126679; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC127264; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC147530; AAI47531.1; -; mRNA.
DR EMBL; BC147540; AAI47541.1; -; mRNA.
DR EMBL; BC150978; AAI50979.1; -; mRNA.
DR EMBL; BC150979; AAI50980.1; -; mRNA.
DR CCDS; CCDS50466.1; -.
DR RefSeq; NP_001156739.1; NM_001163267.1.
DR AlphaFoldDB; B2RW38; -.
DR SMR; B2RW38; -.
DR STRING; 10090.ENSMUSP00000070533; -.
DR iPTMnet; B2RW38; -.
DR PhosphoSitePlus; B2RW38; -.
DR MaxQB; B2RW38; -.
DR PaxDb; B2RW38; -.
DR PRIDE; B2RW38; -.
DR ProteomicsDB; 281597; -.
DR Antibodypedia; 48984; 104 antibodies from 15 providers.
DR Ensembl; ENSMUST00000066308; ENSMUSP00000070533; ENSMUSG00000046585.
DR GeneID; 381229; -.
DR KEGG; mmu:381229; -.
DR UCSC; uc008hvw.1; mouse.
DR CTD; 159686; -.
DR MGI; MGI:2685815; Cfap58.
DR VEuPathDB; HostDB:ENSMUSG00000046585; -.
DR eggNOG; ENOG502QPV7; Eukaryota.
DR GeneTree; ENSGT00530000063534; -.
DR HOGENOM; CLU_006364_0_0_1; -.
DR InParanoid; B2RW38; -.
DR OMA; CQDDMRL; -.
DR OrthoDB; 1077673at2759; -.
DR PhylomeDB; B2RW38; -.
DR TreeFam; TF328680; -.
DR BioGRID-ORCS; 381229; 1 hit in 71 CRISPR screens.
DR PRO; PR:B2RW38; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; B2RW38; protein.
DR Bgee; ENSMUSG00000046585; Expressed in spermatid and 16 other tissues.
DR ExpressionAtlas; B2RW38; baseline and differential.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; IDA:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:MGI.
DR GO; GO:0007219; P:Notch signaling pathway; IMP:UniProtKB.
DR GO; GO:0120229; P:protein localization to motile cilium; ISO:MGI.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:MGI.
DR GO; GO:0120316; P:sperm flagellum assembly; IMP:UniProtKB.
DR GO; GO:0120317; P:sperm mitochondrial sheath assembly; ISO:MGI.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW Cytoplasm; Cytoskeleton; Flagellum; Reference proteome.
FT CHAIN 1..873
FT /note="Cilia- and flagella-associated protein 58"
FT /id="PRO_0000432111"
FT REGION 202..221
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 106..609
FT /evidence="ECO:0000255"
FT COILED 642..832
FT /evidence="ECO:0000255"
FT COMPBIAS 207..221
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 873 AA; 103524 MW; 4826308AA0553B81 CRC64;
MTEDKAEKVM PEETAFEEIE KDFQEVLSEL SGDKSLEKFR TEYEKLHSIM KKSYENEKRL
MAKCRELNAE IVVNSAKVAT ALKLSQDDQT TIASLKKEIE KAWKMVDSAY DKEQKAKETI
LALKEEIVNL TKLVEQGSGL SMDQDSNIRD LLKFKEEVTK ERDQLLSEVV KLRENLAQTI
EKQQAAEHAK EEAEMAISQF QQEIQHRQNE ASRESRKKEK LEKELRQIQT DMDGRQAEIK
AMQQYMHKSK EELQRLEQQL KEQKILNERA AKEVEQFQMR NAKLQQENDQ HTLTCEQLSQ
ENQQKALELK AKEDEIHQMR LDLGKLNKIR EQIHKKLHQL DDQKAEVEQQ KDTLKNQILG
LEREVESSKK QAELDKKAME ELLRERDILN KNMLKAVSAT QKQVDLVKLH EQAKKNLEEE
IQNYKDEAQK QRKIIFQLEK ERDRYINEAS DLTQRVLANM EDIKVREIQI FDYRKKIAES
ETKLKQQQNL YEAVRSDRNL YSKNLVEAQD EITEMKRKLK IMTHQVDQLK EEISAKEAAL
VKLHLEQQRI EKEKETLKAE LQKLRQQALE TKHFIEKQEV EERKLLRIIA EADGERVRQK
KELDQVISER DILGSQLVRR NDELALLYEK IKIQQSVLNK GETQYNQRVE DMRILKLEIK
KLRREKGILA RSVANVEELR QELYHMQREF LKERTRCRAL EEELENPMNV HRWRKLEASD
PSTFELIQKI HTLQKRLISK TEEVVEKELL LQEKEKLYVE LKHILARQPG PEAAEQLQIY
RHTLREKTKQ LKVLSSELNM YESQSQEYKY EIERLGNELM SLKKKYLAQK RKELVLKNKD
RMSMNNIFSE TKKSVPRFTG GGFPLHQATK VKF
