CEP41_HUMAN
ID CEP41_HUMAN Reviewed; 373 AA.
AC Q9BYV8; A4D1M0; B4DQ35; F5H0V6; Q7Z496; Q86TM1; Q8NFU8; Q9H6A3; Q9NPV3;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Centrosomal protein of 41 kDa;
DE Short=Cep41;
DE AltName: Full=Testis-specific gene A14 protein;
GN Name=CEP41; Synonyms=TSGA14;
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] (ISOFORMS 1 AND 3), AND TISSUE SPECIFICITY.
RX PubMed=12034494; DOI=10.1016/s0378-1119(02)00428-6;
RA Yamada T., Kayashima T., Yamasaki K., Ohta T., Yoshiura K., Matsumoto N.,
RA Fujimoto S., Niikawa N., Kishino T.;
RT "The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic
RT imprinting.";
RL Gene 288:57-63(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Brunner B., Kalamajka R., Ropers H.-H., Fundele R., Kalscheuer V.M.;
RT "Identification of a testis-specific gene (TSGA14) proximal to the
RT MEST/COPG2 imprinting cluster on chromosome 7.";
RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
RC TISSUE=Neuroblastoma, Trachea, and Uterus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Eye;
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-373 (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 215-373.
RC TISSUE=Testis;
RA Xu M., Xu Y.Z., Zhou Z.M., Sha J.H.;
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [12]
RP POSSIBLE INVOLVEMENT IN AUTISM, AND VARIANTS ALA-206 AND GLY-240.
RX PubMed=21438139; DOI=10.1002/ajmg.b.31162;
RA Korvatska O., Estes A., Munson J., Dawson G., Bekris L.M., Kohen R.,
RA Yu C.E., Schellenberg G.D., Raskind W.H.;
RT "Mutations in the TSGA14 gene in families with autism spectrum disorders.";
RL Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:303-311(2011).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS15, INTERACTION WITH
RP TTLL6, AND VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360.
RX PubMed=22246503; DOI=10.1038/ng.1078;
RA Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E.,
RA Olvera J., Brancati F., Iannicelli M., Ikegami K., Schlossman A.M.,
RA Merriman B., Attie-Bitach T., Logan C.V., Glass I.A., Cluckey A.,
RA Louie C.M., Lee J.H., Raynes H.R., Rapin I., Castroviejo I.P., Setou M.,
RA Barbot C., Boltshauser E., Nelson S.F., Hildebrandt F., Johnson C.A.,
RA Doherty D.A., Valente E.M., Gleeson J.G.;
RT "CEP41 is mutated in Joubert syndrome and is required for tubulin
RT glutamylation at the cilium.";
RL Nat. Genet. 44:193-199(2012).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Required during ciliogenesis for tubulin glutamylation in
CC cilium. Probably acts by participating in the transport of TTLL6, a
CC tubulin polyglutamylase, between the basal body and the cilium.
CC {ECO:0000269|PubMed:22246503}.
CC -!- SUBUNIT: Found in a complex with TTLL6.
CC -!- INTERACTION:
CC Q9BYV8-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-25843412, EBI-10976677;
CC Q9BYV8-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25843412, EBI-5235340;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:14654843}. Cell projection,
CC cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes
CC mainly to the cilium basal body and in primary cilia.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=L-type;
CC IsoId=Q9BYV8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BYV8-2; Sequence=VSP_012248;
CC Name=3; Synonyms=S-type;
CC IsoId=Q9BYV8-4; Sequence=VSP_012246, VSP_012247;
CC Name=4;
CC IsoId=Q9BYV8-5; Sequence=VSP_042579, VSP_012248;
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed in testis and fetal tissues.
CC {ECO:0000269|PubMed:12034494}.
CC -!- TISSUE SPECIFICITY: [Isoform 3]: Expressed in testis and fetal tissues.
CC {ECO:0000269|PubMed:12034494}.
CC -!- DOMAIN: Although it contains a rhodanese domain, does not display
CC phosphatase activity, suggesting that the protein is enzymatically
CC inactive. {ECO:0000269|PubMed:22246503}.
CC -!- DISEASE: Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal
CC recessive disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis and polydactyly. {ECO:0000269|PubMed:22246503}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Note=Genetic variations in CEP41 may be associated with
CC susceptibility to autism (PubMed:21438139).
CC {ECO:0000269|PubMed:21438139}.
CC -!- SIMILARITY: Belongs to the CEP41 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAO31692.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AF429308; AAM43959.1; -; mRNA.
DR EMBL; AF429309; AAM43960.1; -; mRNA.
DR EMBL; AJ278890; CAC33567.1; -; mRNA.
DR EMBL; AK026098; BAB15359.1; -; mRNA.
DR EMBL; AK298618; BAG60797.1; -; mRNA.
DR EMBL; AK314676; BAG37230.1; -; mRNA.
DR EMBL; AC007938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471070; EAW83764.1; -; Genomic_DNA.
DR EMBL; CH236950; EAL24088.1; -; Genomic_DNA.
DR EMBL; BC056162; AAH56162.1; -; mRNA.
DR EMBL; AL359617; CAB94886.1; -; mRNA.
DR EMBL; AY186739; AAO31692.1; ALT_SEQ; mRNA.
DR CCDS; CCDS5821.1; -. [Q9BYV8-1]
DR CCDS; CCDS59078.1; -. [Q9BYV8-5]
DR CCDS; CCDS59079.1; -. [Q9BYV8-2]
DR CCDS; CCDS59080.1; -. [Q9BYV8-4]
DR PIR; T50634; T50634.
DR RefSeq; NP_001244087.1; NM_001257158.1. [Q9BYV8-2]
DR RefSeq; NP_001244088.1; NM_001257159.1. [Q9BYV8-5]
DR RefSeq; NP_001244089.1; NM_001257160.1. [Q9BYV8-4]
DR RefSeq; NP_061188.1; NM_018718.2. [Q9BYV8-1]
DR AlphaFoldDB; Q9BYV8; -.
DR SMR; Q9BYV8; -.
DR BioGRID; 125173; 22.
DR IntAct; Q9BYV8; 7.
DR STRING; 9606.ENSP00000223208; -.
DR iPTMnet; Q9BYV8; -.
DR PhosphoSitePlus; Q9BYV8; -.
DR BioMuta; CEP41; -.
DR DMDM; 56748870; -.
DR EPD; Q9BYV8; -.
DR jPOST; Q9BYV8; -.
DR MassIVE; Q9BYV8; -.
DR MaxQB; Q9BYV8; -.
DR PaxDb; Q9BYV8; -.
DR PeptideAtlas; Q9BYV8; -.
DR PRIDE; Q9BYV8; -.
DR ProteomicsDB; 79721; -. [Q9BYV8-1]
DR ProteomicsDB; 79722; -. [Q9BYV8-2]
DR ProteomicsDB; 79724; -. [Q9BYV8-4]
DR ProteomicsDB; 79725; -. [Q9BYV8-5]
DR Antibodypedia; 32076; 80 antibodies from 22 providers.
DR DNASU; 95681; -.
DR Ensembl; ENST00000223208.10; ENSP00000223208.4; ENSG00000106477.20. [Q9BYV8-1]
DR Ensembl; ENST00000489512.5; ENSP00000417815.1; ENSG00000106477.20. [Q9BYV8-4]
DR Ensembl; ENST00000675596.1; ENSP00000501735.1; ENSG00000106477.20. [Q9BYV8-2]
DR Ensembl; ENST00000675962.1; ENSP00000502478.1; ENSG00000106477.20. [Q9BYV8-5]
DR GeneID; 95681; -.
DR KEGG; hsa:95681; -.
DR MANE-Select; ENST00000223208.10; ENSP00000223208.4; NM_018718.3; NP_061188.1.
DR UCSC; uc003vpz.5; human. [Q9BYV8-1]
DR CTD; 95681; -.
DR DisGeNET; 95681; -.
DR GeneCards; CEP41; -.
DR GeneReviews; CEP41; -.
DR HGNC; HGNC:12370; CEP41.
DR HPA; ENSG00000106477; Tissue enhanced (testis).
DR MalaCards; CEP41; -.
DR MIM; 610523; gene.
DR MIM; 614464; phenotype.
DR neXtProt; NX_Q9BYV8; -.
DR OpenTargets; ENSG00000106477; -.
DR Orphanet; 475; Joubert syndrome.
DR Orphanet; 220493; Joubert syndrome with ocular defect.
DR PharmGKB; PA37039; -.
DR VEuPathDB; HostDB:ENSG00000106477; -.
DR eggNOG; ENOG502QR8A; Eukaryota.
DR GeneTree; ENSGT00390000002222; -.
DR HOGENOM; CLU_064316_0_0_1; -.
DR InParanoid; Q9BYV8; -.
DR OMA; DRCHIIS; -.
DR OrthoDB; 1216222at2759; -.
DR PhylomeDB; Q9BYV8; -.
DR TreeFam; TF324682; -.
DR PathwayCommons; Q9BYV8; -.
DR Reactome; R-HSA-2565942; Regulation of PLK1 Activity at G2/M Transition.
DR Reactome; R-HSA-380259; Loss of Nlp from mitotic centrosomes.
DR Reactome; R-HSA-380270; Recruitment of mitotic centrosome proteins and complexes.
DR Reactome; R-HSA-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
DR Reactome; R-HSA-380320; Recruitment of NuMA to mitotic centrosomes.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR Reactome; R-HSA-8854518; AURKA Activation by TPX2.
DR SignaLink; Q9BYV8; -.
DR BioGRID-ORCS; 95681; 16 hits in 1082 CRISPR screens.
DR ChiTaRS; CEP41; human.
DR GenomeRNAi; 95681; -.
DR Pharos; Q9BYV8; Tbio.
DR PRO; PR:Q9BYV8; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9BYV8; protein.
DR Bgee; ENSG00000106477; Expressed in sperm and 155 other tissues.
DR ExpressionAtlas; Q9BYV8; baseline and differential.
DR Genevisible; Q9BYV8; HS.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0018095; P:protein polyglutamylation; ISS:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; 3.40.250.10; -; 1.
DR InterPro; IPR001763; Rhodanese-like_dom.
DR InterPro; IPR036873; Rhodanese-like_dom_sf.
DR Pfam; PF00581; Rhodanese; 1.
DR SMART; SM00450; RHOD; 1.
DR SUPFAM; SSF52821; SSF52821; 1.
DR PROSITE; PS50206; RHODANESE_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autism; Autism spectrum disorder; Cell projection;
KW Ciliopathy; Cilium; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Joubert syndrome; Methylation; Phosphoprotein; Protein transport;
KW Reference proteome; Transport.
FT CHAIN 1..373
FT /note="Centrosomal protein of 41 kDa"
FT /id="PRO_0000089489"
FT DOMAIN 169..266
FT /note="Rhodanese"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00173"
FT REGION 89..137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 275..373
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 100..137
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 301..322
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 324..340
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 350..365
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 96
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF3"
FT MOD_RES 99
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF3"
FT MOD_RES 109
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF3"
FT MOD_RES 121
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF3"
FT MOD_RES 343
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF3"
FT VAR_SEQ 33..49
FT /note="GNSMTKYTEKLEEIKKN -> D (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042579"
FT VAR_SEQ 34..54
FT /note="NSMTKYTEKLEEIKKNYRYKK -> ACVYLTSSPALPDCAMNGLCF (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:12034494"
FT /id="VSP_012246"
FT VAR_SEQ 55..373
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12034494"
FT /id="VSP_012247"
FT VAR_SEQ 254..325
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_012248"
FT VARIANT 36
FT /note="M -> T (probable disease-associated variant found in
FT a patient with Joubert syndrome; digenic inheritance; the
FT patient also carries a truncating mutation in CC2D2A;
FT dbSNP:rs368178632)"
FT /evidence="ECO:0000269|PubMed:22246503"
FT /id="VAR_067053"
FT VARIANT 89
FT /note="Q -> E (found in a patient with Meckel syndrome;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:22246503"
FT /id="VAR_067054"
FT VARIANT 179
FT /note="R -> H (probable disease-associated variant found in
FT a patient with Joubert syndrome; digenic inheritance; the
FT patient also carries a truncating mutation in KIF7;
FT dbSNP:rs140259402)"
FT /evidence="ECO:0000269|PubMed:22246503"
FT /id="VAR_067055"
FT VARIANT 206
FT /note="P -> A (found in a patient with autism; unknown
FT pathological significance; dbSNP:rs143303575)"
FT /evidence="ECO:0000269|PubMed:21438139"
FT /id="VAR_067056"
FT VARIANT 240
FT /note="C -> G (found in a patient with autism; unknown
FT pathological significance; dbSNP:rs113941736)"
FT /evidence="ECO:0000269|PubMed:21438139"
FT /id="VAR_067057"
FT VARIANT 360
FT /note="R -> C (probable disease-associated variant found in
FT a patient with Joubert syndrome; digenic inheritance; the
FT patient also carries mutation A-1447 in CC2D2A;
FT dbSNP:rs371812716)"
FT /evidence="ECO:0000269|PubMed:22246503"
FT /id="VAR_067058"
FT CONFLICT 170
FT /note="D -> G (in Ref. 3; BAB15359)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="P -> S (in Ref. 8; CAB94886)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 41368 MW; 406F7FA9E8A4EAF8 CRC64;
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR
LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP
SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD
RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC
ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR
SLSSGHLQGK PWK
