ATX10_HUMAN
ID ATX10_HUMAN Reviewed; 475 AA.
AC Q9UBB4; A6NLC4; B4DG05; O14998; O15009; Q6I9X4;
DT 18-OCT-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 188.
DE RecName: Full=Ataxin-10;
DE AltName: Full=Brain protein E46 homolog;
DE AltName: Full=Spinocerebellar ataxia type 10 protein;
GN Name=ATXN10; Synonyms=SCA10;
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 MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Adrenal gland, and Hypothalamus;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
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 TISSUE SPECIFICITY.
RX PubMed=15201271; DOI=10.1074/jbc.m405865200;
RA Maerz P., Probst A., Lang S., Schwager M., Rose-John S., Otten U.,
RA Ozbek S.;
RT "Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder
RT protein, is essential for survival of cerebellar neurons.";
RL J. Biol. Chem. 279:35542-35550(2004).
RN [9]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH GNB2.
RX PubMed=16498633; DOI=10.1002/jnr.20807;
RA Waragai M., Nagamitsu S., Xu W., Li Y.J., Lin X., Ashizawa T.;
RT "Ataxin 10 induces neuritogenesis via interaction with G-protein beta2
RT subunit.";
RL J. Neurosci. Res. 83:1170-1178(2006).
RN [10]
RP INVOLVEMENT IN SCA10.
RX PubMed=11017075; DOI=10.1038/79911;
RA Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P.,
RA Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L., Achari M.,
RA Pulst S.M., Alonso E., Noebels J.L., Nelson D.L., Zoghbi H.Y., Ashizawa T.;
RT "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar
RT ataxia type 10.";
RL Nat. Genet. 26:191-194(2000).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
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 [13]
RP INTERACTION WITH IQCB1, AND INVOLVEMENT IN NEPHRONOPHTHISIS.
RX PubMed=21565611; DOI=10.1016/j.cell.2011.04.019;
RA Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A.,
RA Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K.,
RA Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D.,
RA O'Toole J.F., Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A.,
RA Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B.,
RA Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.;
RT "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes
RT and pathways.";
RL Cell 145:513-528(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-430, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Necessary for the survival of cerebellar neurons. Induces
CC neuritogenesis by activating the Ras-MAP kinase pathway. May play a
CC role in the maintenance of a critical intracellular glycosylation level
CC and homeostasis. {ECO:0000250}.
CC -!- SUBUNIT: Homooligomer (By similarity). Interacts with OGT (By
CC similarity). Interacts with GNB2. Interacts with IQCB1. {ECO:0000250,
CC ECO:0000269|PubMed:16498633, ECO:0000269|PubMed:21565611}.
CC -!- INTERACTION:
CC Q9UBB4; P63010-2: AP2B1; NbExp=3; IntAct=EBI-702390, EBI-11529439;
CC Q9UBB4; Q9BZZ5-2: API5; NbExp=3; IntAct=EBI-702390, EBI-10989614;
CC Q9UBB4; Q16611: BAK1; NbExp=3; IntAct=EBI-702390, EBI-519866;
CC Q9UBB4; P29017: CD1C; NbExp=3; IntAct=EBI-702390, EBI-2836704;
CC Q9UBB4; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-702390, EBI-396137;
CC Q9UBB4; Q7Z7K6: CENPV; NbExp=3; IntAct=EBI-702390, EBI-1210604;
CC Q9UBB4; Q9UNS2: COPS3; NbExp=3; IntAct=EBI-702390, EBI-350590;
CC Q9UBB4; Q2TBE0: CWF19L2; NbExp=3; IntAct=EBI-702390, EBI-5453285;
CC Q9UBB4; Q14689-3: DIP2A; NbExp=3; IntAct=EBI-702390, EBI-25858204;
CC Q9UBB4; Q71DI3: H3C15; NbExp=3; IntAct=EBI-702390, EBI-750650;
CC Q9UBB4; P61978: HNRNPK; NbExp=3; IntAct=EBI-702390, EBI-304185;
CC Q9UBB4; Q12891: HYAL2; NbExp=3; IntAct=EBI-702390, EBI-2806068;
CC Q9UBB4; Q14693: LPIN1; NbExp=3; IntAct=EBI-702390, EBI-5278370;
CC Q9UBB4; Q96KN4: LRATD1; NbExp=3; IntAct=EBI-702390, EBI-11477916;
CC Q9UBB4; O94851: MICAL2; NbExp=3; IntAct=EBI-702390, EBI-2804835;
CC Q9UBB4; Q15049: MLC1; NbExp=3; IntAct=EBI-702390, EBI-8475277;
CC Q9UBB4; P55198: MLLT6; NbExp=3; IntAct=EBI-702390, EBI-740216;
CC Q9UBB4; P01106: MYC; NbExp=4; IntAct=EBI-702390, EBI-447544;
CC Q9UBB4; Q13772-3: NCOA4; NbExp=3; IntAct=EBI-702390, EBI-12054609;
CC Q9UBB4; Q5T6S3: PHF19; NbExp=3; IntAct=EBI-702390, EBI-2339674;
CC Q9UBB4; O75925: PIAS1; NbExp=3; IntAct=EBI-702390, EBI-629434;
CC Q9UBB4; O14974: PPP1R12A; NbExp=3; IntAct=EBI-702390, EBI-351726;
CC Q9UBB4; Q8N6K7-2: SAMD3; NbExp=3; IntAct=EBI-702390, EBI-11528848;
CC Q9UBB4; O95391: SLU7; NbExp=3; IntAct=EBI-702390, EBI-750559;
CC Q9UBB4; Q8NHS9: SPATA22; NbExp=3; IntAct=EBI-702390, EBI-7067260;
CC Q9UBB4; Q8IUW3: SPATA2L; NbExp=3; IntAct=EBI-702390, EBI-2510414;
CC Q9UBB4; Q9BR01-2: SULT4A1; NbExp=3; IntAct=EBI-702390, EBI-25831443;
CC Q9UBB4; Q04724: TLE1; NbExp=3; IntAct=EBI-702390, EBI-711424;
CC Q9UBB4; Q8WVJ9: TWIST2; NbExp=3; IntAct=EBI-702390, EBI-1797313;
CC Q9UBB4; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-702390, EBI-947187;
CC Q9UBB4; Q9H347: UBQLN3; NbExp=3; IntAct=EBI-702390, EBI-25832660;
CC Q9UBB4; Q8IYU4: UBQLNL; NbExp=3; IntAct=EBI-702390, EBI-12295223;
CC Q9UBB4; Q9BVJ6: UTP14A; NbExp=3; IntAct=EBI-702390, EBI-473284;
CC Q9UBB4; P08670: VIM; NbExp=3; IntAct=EBI-702390, EBI-353844;
CC Q9UBB4; Q9GZS3: WDR61; NbExp=3; IntAct=EBI-702390, EBI-358545;
CC Q9UBB4; Q9Y2L8: ZKSCAN5; NbExp=3; IntAct=EBI-702390, EBI-2876965;
CC Q9UBB4; Q9UNY5: ZNF232; NbExp=3; IntAct=EBI-702390, EBI-749023;
CC Q9UBB4; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-702390, EBI-10251462;
CC Q9UBB4; Q96E88; NbExp=3; IntAct=EBI-702390, EBI-10976904;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region
CC {ECO:0000269|PubMed:16498633}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UBB4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UBB4-2; Sequence=VSP_042526;
CC -!- TISSUE SPECIFICITY: Expressed in the central nervous system.
CC {ECO:0000269|PubMed:15201271}.
CC -!- DISEASE: Spinocerebellar ataxia 10 (SCA10) [MIM:603516]:
CC Spinocerebellar ataxia is a clinically and genetically heterogeneous
CC group of cerebellar disorders. Patients show progressive incoordination
CC of gait and often poor coordination of hands, speech and eye movements,
CC due to degeneration of the cerebellum with variable involvement of the
CC brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar
CC ataxia (ADCA). {ECO:0000269|PubMed:11017075}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Note=Defects in ATXN1 may be a cause of nephronophthisis a
CC chronic tubulo-interstitial nephropathy that leads to anemia, polyuria,
CC polydipsia, isosthenuria and death in uremia.
CC {ECO:0000269|PubMed:21565611}.
CC -!- SIMILARITY: Belongs to the ataxin-10 family. {ECO:0000305}.
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DR EMBL; AL050282; CAB43383.1; -; mRNA.
DR EMBL; AF119662; AAF17219.1; -; mRNA.
DR EMBL; CR457381; CAG33662.1; -; mRNA.
DR EMBL; CR456568; CAG30454.1; -; mRNA.
DR EMBL; AK294348; BAG57616.1; -; mRNA.
DR EMBL; Z84478; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z93784; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z95331; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007508; AAH07508.1; -; mRNA.
DR CCDS; CCDS14070.1; -. [Q9UBB4-1]
DR CCDS; CCDS54540.1; -. [Q9UBB4-2]
DR PIR; T08753; T08753.
DR RefSeq; NP_001161093.1; NM_001167621.1. [Q9UBB4-2]
DR RefSeq; NP_037368.1; NM_013236.3. [Q9UBB4-1]
DR AlphaFoldDB; Q9UBB4; -.
DR BioGRID; 117343; 159.
DR IntAct; Q9UBB4; 90.
DR MINT; Q9UBB4; -.
DR STRING; 9606.ENSP00000252934; -.
DR CarbonylDB; Q9UBB4; -.
DR GlyGen; Q9UBB4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9UBB4; -.
DR MetOSite; Q9UBB4; -.
DR PhosphoSitePlus; Q9UBB4; -.
DR SwissPalm; Q9UBB4; -.
DR BioMuta; ATXN10; -.
DR DMDM; 17372671; -.
DR EPD; Q9UBB4; -.
DR jPOST; Q9UBB4; -.
DR MassIVE; Q9UBB4; -.
DR MaxQB; Q9UBB4; -.
DR PaxDb; Q9UBB4; -.
DR PeptideAtlas; Q9UBB4; -.
DR PRIDE; Q9UBB4; -.
DR ProteomicsDB; 83921; -. [Q9UBB4-1]
DR ProteomicsDB; 83922; -. [Q9UBB4-2]
DR Antibodypedia; 27938; 204 antibodies from 27 providers.
DR DNASU; 25814; -.
DR Ensembl; ENST00000252934.10; ENSP00000252934.4; ENSG00000130638.17. [Q9UBB4-1]
DR Ensembl; ENST00000381061.8; ENSP00000370449.4; ENSG00000130638.17. [Q9UBB4-2]
DR GeneID; 25814; -.
DR KEGG; hsa:25814; -.
DR MANE-Select; ENST00000252934.10; ENSP00000252934.4; NM_013236.4; NP_037368.1.
DR UCSC; uc003bgm.3; human. [Q9UBB4-1]
DR CTD; 25814; -.
DR DisGeNET; 25814; -.
DR GeneCards; ATXN10; -.
DR GeneReviews; ATXN10; -.
DR HGNC; HGNC:10549; ATXN10.
DR HPA; ENSG00000130638; Low tissue specificity.
DR MalaCards; ATXN10; -.
DR MIM; 603516; phenotype.
DR MIM; 611150; gene.
DR neXtProt; NX_Q9UBB4; -.
DR OpenTargets; ENSG00000130638; -.
DR Orphanet; 98761; Spinocerebellar ataxia type 10.
DR PharmGKB; PA34959; -.
DR VEuPathDB; HostDB:ENSG00000130638; -.
DR eggNOG; KOG2676; Eukaryota.
DR GeneTree; ENSGT00390000010377; -.
DR HOGENOM; CLU_046084_1_0_1; -.
DR InParanoid; Q9UBB4; -.
DR OMA; DICAWES; -.
DR OrthoDB; 1416864at2759; -.
DR PhylomeDB; Q9UBB4; -.
DR TreeFam; TF323870; -.
DR PathwayCommons; Q9UBB4; -.
DR SignaLink; Q9UBB4; -.
DR SIGNOR; Q9UBB4; -.
DR BioGRID-ORCS; 25814; 367 hits in 1094 CRISPR screens.
DR ChiTaRS; ATXN10; human.
DR GeneWiki; ATXN10; -.
DR GenomeRNAi; 25814; -.
DR Pharos; Q9UBB4; Tbio.
DR PRO; PR:Q9UBB4; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9UBB4; protein.
DR Bgee; ENSG00000130638; Expressed in cortical plate and 212 other tissues.
DR ExpressionAtlas; Q9UBB4; baseline and differential.
DR Genevisible; Q9UBB4; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0030425; C:dendrite; IDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
DR GO; GO:0007399; P:nervous system development; IMP:UniProtKB.
DR GO; GO:0031175; P:neuron projection development; IDA:UniProtKB.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR019156; Ataxin-10_domain.
DR Pfam; PF09759; Atx10homo_assoc; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Ciliopathy; Cytoplasm; Methylation;
KW Neurodegeneration; Phosphoprotein; Reference proteome;
KW Spinocerebellar ataxia.
FT CHAIN 1..475
FT /note="Ataxin-10"
FT /id="PRO_0000064748"
FT MOD_RES 10
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:P28658"
FT MOD_RES 12
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 430
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 40..103
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042526"
SQ SEQUENCE 475 AA; 53489 MW; FD02130EC86D1A3A CRC64;
MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRE TAPRTIFQRV LDILKKSSHA
VELACRDPSQ VENLASSLQL ITECFRCLRN ACIECSVNQN SIRNLDTIGV AVDLILLFRE
LRVEQESLLT AFRCGLQFLG NIASRNEDSQ SIVWVHAFPE LFLSCLNHPD KKIVAYSSMI
LFTSLNHERM KELEENLNIA IDVIDAYQKH PESEWPFLII TDLFLKSPEL VQAMFPKLNN
QERVTLLDLM IAKITSDEPL TKDDIPVFLR HAELIASTFV DQCKTVLKLA SEEPPDDEEA
LATIRLLDVL CEMTVNTELL GYLQVFPGLL ERVIDLLRVI HVAGKETTNI FSNCGCVRAE
GDISNVANGF KSHLIRLIGN LCYKNKDNQD KVNELDGIPL ILDNCNISDS NPFLTQWVIY
AIRNLTEDNS QNQDLIAKME EQGLADASLL KKVGFEVEKK GEKLILKSTR DTPKP
