CYS1_HUMAN
ID CYS1_HUMAN Reviewed; 158 AA.
AC Q717R9;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Cystin-1;
DE AltName: Full=Cilia-associated protein;
GN Name=CYS1;
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 [MRNA].
RC TISSUE=Testis;
RX PubMed=12733055; DOI=10.1007/s00467-003-1141-1;
RA Fliegauf M., Frohlich C., Horvath J., Olbrich H., Hildebrandt F., Omran H.;
RT "Identification of the human CYS1 gene and candidate gene analysis in
RT Boichis disease.";
RL Pediatr. Nephrol. 18:498-505(2003).
RN [2]
RP DEVELOPMENTAL STAGE.
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 [3]
RP MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119 AND UNC119B, AND
RP SUBCELLULAR LOCATION.
RX PubMed=22085962; DOI=10.1101/gad.173443.111;
RA Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L.,
RA Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P.,
RA Slusarski D.C., Jackson P.K.;
RT "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary
RT cilium.";
RL Genes Dev. 25:2347-2360(2011).
CC -!- SUBUNIT: Interacts (when myristoylated) with UNC119 and UNC119B;
CC interaction is required for localization to cilium.
CC {ECO:0000269|PubMed:22085962}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000269|PubMed:22085962}; Lipid-anchor
CC {ECO:0000269|PubMed:22085962}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:22085962}. Note=Expression is enriched in the
CC ciliary axoneme. Localization to cilium is mediated via interaction
CC with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-
CC terminus.
CC -!- TISSUE SPECIFICITY: Expressed at high levels in the kidney and
CC pancreas. Moderate expression seen in the skeletal muscle, liver and
CC heart. A weak expression seen in the brain, lung, uterus, prostate,
CC testis, small intestine and colon.
CC -!- DEVELOPMENTAL STAGE: Fetal kidney. {ECO:0000269|PubMed:11854326}.
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DR EMBL; AF544983; AAQ11748.1; -; mRNA.
DR CCDS; CCDS33145.1; -.
DR RefSeq; NP_001032237.1; NM_001037160.2.
DR AlphaFoldDB; Q717R9; -.
DR BioGRID; 128176; 26.
DR STRING; 9606.ENSP00000371234; -.
DR iPTMnet; Q717R9; -.
DR PhosphoSitePlus; Q717R9; -.
DR BioMuta; CYS1; -.
DR jPOST; Q717R9; -.
DR MassIVE; Q717R9; -.
DR PaxDb; Q717R9; -.
DR PeptideAtlas; Q717R9; -.
DR PRIDE; Q717R9; -.
DR ProteomicsDB; 68591; -.
DR Antibodypedia; 68061; 8 antibodies from 7 providers.
DR DNASU; 192668; -.
DR Ensembl; ENST00000381813.5; ENSP00000371234.4; ENSG00000205795.5.
DR GeneID; 192668; -.
DR KEGG; hsa:192668; -.
DR MANE-Select; ENST00000381813.5; ENSP00000371234.4; NM_001037160.3; NP_001032237.1.
DR UCSC; uc002rag.3; human.
DR CTD; 192668; -.
DR DisGeNET; 192668; -.
DR GeneCards; CYS1; -.
DR HGNC; HGNC:18525; CYS1.
DR HPA; ENSG00000205795; Group enriched (kidney, pancreas).
DR MIM; 618713; gene.
DR neXtProt; NX_Q717R9; -.
DR OpenTargets; ENSG00000205795; -.
DR PharmGKB; PA38343; -.
DR VEuPathDB; HostDB:ENSG00000205795; -.
DR eggNOG; ENOG502T1UF; Eukaryota.
DR GeneTree; ENSGT00390000016845; -.
DR HOGENOM; CLU_149422_0_0_1; -.
DR InParanoid; Q717R9; -.
DR OMA; KRSTEDH; -.
DR OrthoDB; 1477810at2759; -.
DR PhylomeDB; Q717R9; -.
DR PathwayCommons; Q717R9; -.
DR Reactome; R-HSA-5624138; Trafficking of myristoylated proteins to the cilium.
DR SignaLink; Q717R9; -.
DR BioGRID-ORCS; 192668; 123 hits in 1057 CRISPR screens.
DR GenomeRNAi; 192668; -.
DR Pharos; Q717R9; Tdark.
DR PRO; PR:Q717R9; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q717R9; protein.
DR Bgee; ENSG00000205795; Expressed in kidney epithelium and 117 other tissues.
DR Genevisible; Q717R9; HS.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005929; C:cilium; TAS:Reactome.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Lipoprotein; Membrane; Myristate; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..158
FT /note="Cystin-1"
FT /id="PRO_0000261177"
FT REGION 1..146
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 29..33
FT /note="Ciliary targeting motif"
FT /evidence="ECO:0000250"
FT COMPBIAS 128..146
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:22085962"
SQ SEQUENCE 158 AA; 16393 MW; 9B542661E80496B2 CRC64;
MGSGSSRSSR TLRRRRSPES LPAGPGAAAL EGGTRRRVPV AAAEVPGAAA EEAPGRDPSP
VAPPDGRDET LRLLDELLAE SAAWGPPEPA PRRPARLRPT AVAGSAVCAE QSTEGHPGSG
NVSEAPGSGR KKPERPAAIS YDHSEEGLMA SIEREYCR
