CYS1_MOUSE
ID CYS1_MOUSE Reviewed; 145 AA.
AC Q8R4T1; B7ZP27; Q8R4T0;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 25-MAY-2022, entry version 113.
DE RecName: Full=Cystin-1;
DE AltName: Full=Cilia-associated protein;
GN Name=Cys1;
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;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, SUBCELLULAR LOCATION,
RP DISEASE, AND TISSUE SPECIFICITY.
RC STRAIN=129/SvJ, and C57BL/6J;
RX PubMed=11854326; DOI=10.1172/jci14099;
RA Hou X., Mrug M., Yoder B.K., Lefkowitz E.J., Kremmidiotis G.,
RA D'Eustachio P., Beier D.R., Guay-Woodford L.M.;
RT "Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse
RT model of polycystic kidney disease.";
RL J. Clin. Invest. 109:533-540(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 SUBCELLULAR LOCATION, CILIARY TARGETING MOTIF, AND MYRISTOYLATION AT GLY-2.
RX PubMed=19850956; DOI=10.1681/asn.2009020188;
RA Tao B., Bu S., Yang Z., Siroky B., Kappes J.C., Kispert A.,
RA Guay-Woodford L.M.;
RT "Cystin localizes to primary cilia via membrane microdomains and a
RT targeting motif.";
RL J. Am. Soc. Nephrol. 20:2570-2580(2009).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-116, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney, and Lung;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- SUBUNIT: Interacts (when myristoylated) with UNC119 and UNC119B;
CC interaction is required for localization to cilium. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane; Lipid-anchor.
CC Cytoplasm, cytoskeleton, cilium axoneme. Note=Localization to cilium is
CC mediated via interaction with UNC119 and UNC119B, which bind to the
CC myristoyl moiety of the N-terminus (By similarity). Expression is
CC enriched in the ciliary axoneme. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed primarily in the kidney and liver.
CC Expressed at lower levels in the lung, brain and heart.
CC {ECO:0000269|PubMed:11854326}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the fetal kidney.
CC -!- DISEASE: Note=Defects in Cys1 are a cause of polycystic kidney disease.
CC {ECO:0000269|PubMed:11854326}.
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; AF390547; AAM08225.1; -; Genomic_DNA.
DR EMBL; AF390548; AAM08707.1; -; mRNA.
DR EMBL; BC139298; AAI39299.1; -; mRNA.
DR EMBL; BC139302; AAI39303.1; -; mRNA.
DR EMBL; BC145598; AAI45599.1; -; mRNA.
DR EMBL; BC171971; AAI71971.1; -; mRNA.
DR CCDS; CCDS36422.1; -.
DR RefSeq; NP_001004455.2; NM_001004455.2.
DR RefSeq; NP_001155279.1; NM_001161807.1.
DR RefSeq; NP_619627.3; NM_138686.3.
DR RefSeq; XP_006515014.1; XM_006514951.3.
DR RefSeq; XP_006515015.1; XM_006514952.3.
DR AlphaFoldDB; Q8R4T1; -.
DR SMR; Q8R4T1; -.
DR BioGRID; 198858; 1.
DR STRING; 10090.ENSMUSP00000141121; -.
DR iPTMnet; Q8R4T1; -.
DR PhosphoSitePlus; Q8R4T1; -.
DR MaxQB; Q8R4T1; -.
DR PaxDb; Q8R4T1; -.
DR PRIDE; Q8R4T1; -.
DR ProteomicsDB; 279138; -.
DR DNASU; 12879; -.
DR GeneID; 12879; -.
DR KEGG; mmu:12879; -.
DR UCSC; uc007nep.1; mouse.
DR CTD; 192668; -.
DR MGI; MGI:2177632; Cys1.
DR eggNOG; ENOG502T1UF; Eukaryota.
DR InParanoid; Q8R4T1; -.
DR OrthoDB; 1477810at2759; -.
DR PhylomeDB; Q8R4T1; -.
DR BioGRID-ORCS; 12879; 2 hits in 72 CRISPR screens.
DR ChiTaRS; Cys1; mouse.
DR PRO; PR:Q8R4T1; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; Q8R4T1; protein.
DR GO; GO:0005930; C:axoneme; IDA:MGI.
DR GO; GO:0036064; C:ciliary basal body; IDA:MGI.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; IDA:MGI.
DR GO; GO:0016020; C:membrane; IDA:MGI.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0003682; F:chromatin binding; IDA:MGI.
DR GO; GO:0003714; F:transcription corepressor activity; IDA:MGI.
DR GO; GO:0048839; P:inner ear development; IMP:MGI.
DR GO; GO:0001822; P:kidney development; IMP:MGI.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; IDA:MGI.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Lipoprotein; Membrane; Myristate; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..145
FT /note="Cystin-1"
FT /id="PRO_0000261178"
FT REGION 1..129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 29..33
FT /note="Ciliary targeting motif"
FT COMPBIAS 23..41
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 116
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:19850956"
FT CONFLICT 39
FT /note="P -> R (in Ref. 1; AAM08707)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 145 AA; 15506 MW; 056B4925201707DF CRC64;
MGSGSSRSGR IPRRRRSPDR RQTGPGETAS EGGTADQAPT AAGQEESGRD PRPATPSGGR
EETLRLLDQL LAESEAWGPQ ELTPRGPARL APAVSPEKKV KGNPEDSCAS EAPGNSPKRP
EGQSAISYDY SEEELMASIE REYCR
