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 24-JAN-2024, entry version 196. 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; Q9GZS3: SKIC8; NbExp=3; IntAct=EBI-702390, EBI-358545; 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; 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}. 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; 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; 183. DR IntAct; Q9UBB4; 94. 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; 9606-ENSP00000252934; -. DR PeptideAtlas; Q9UBB4; -. DR ProteomicsDB; 83921; -. [Q9UBB4-1] DR ProteomicsDB; 83922; -. [Q9UBB4-2] DR Pumba; Q9UBB4; -. DR Antibodypedia; 27938; 247 antibodies from 27 providers. DR DNASU; 25814; -. DR Ensembl; ENST00000252934.10; ENSP00000252934.4; ENSG00000130638.18. [Q9UBB4-1] DR Ensembl; ENST00000381061.8; ENSP00000370449.4; ENSG00000130638.18. [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 AGR; HGNC:10549; -. 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; CAWESPP; -. DR OrthoDB; 5479391at2759; -. DR PhylomeDB; Q9UBB4; -. DR TreeFam; TF323870; -. DR PathwayCommons; Q9UBB4; -. DR SignaLink; Q9UBB4; -. DR SIGNOR; Q9UBB4; -. DR BioGRID-ORCS; 25814; 382 hits in 1173 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 214 other cell types or tissues. DR ExpressionAtlas; Q9UBB4; baseline and differential. 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; Leucine-rich Repeat Variant; 2. DR InterPro; IPR011989; ARM-like. DR InterPro; IPR016024; ARM-type_fold. DR InterPro; IPR019156; Ataxin-10_domain. DR PANTHER; PTHR13255; ATAXIN-10; 1. DR PANTHER; PTHR13255:SF0; ATAXIN-10; 1. DR Pfam; PF09759; Atx10homo_assoc; 1. DR SUPFAM; SSF48371; ARM repeat; 1. DR Genevisible; Q9UBB4; HS. 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 //