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Q9UBB4

- ATX10_HUMAN

UniProt

Q9UBB4 - ATX10_HUMAN

Protein

Ataxin-10

Gene

ATXN10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. nervous system development Source: UniProtKB
    3. neuron projection development Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ataxin-10
    Alternative name(s):
    Brain protein E46 homolog
    Spinocerebellar ataxia type 10 protein
    Gene namesi
    Name:ATXN10
    Synonyms:SCA10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:10549. ATXN10.

    Subcellular locationi

    Cytoplasmperinuclear region 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Ensembl
    3. dendrite Source: UniProtKB
    4. extracellular space Source: UniProt
    5. membrane Source: UniProtKB
    6. neuronal cell body Source: UniProtKB
    7. perinuclear region of cytoplasm Source: UniProtKB
    8. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 10 (SCA10) [MIM:603516]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia.

    Keywords - Diseasei

    Ciliopathy, Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

    MIMi603516. phenotype.
    Orphaneti220497. Joubert syndrome with renal defect.
    98761. Spinocerebellar ataxia type 10.
    PharmGKBiPA34959.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 475475Ataxin-10PRO_0000064748Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei12 – 121Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UBB4.
    PaxDbiQ9UBB4.
    PeptideAtlasiQ9UBB4.
    PRIDEiQ9UBB4.

    PTM databases

    PhosphoSiteiQ9UBB4.

    Expressioni

    Tissue specificityi

    Expressed in the central nervous system.1 Publication

    Gene expression databases

    ArrayExpressiQ9UBB4.
    BgeeiQ9UBB4.
    CleanExiHS_ATXN10.
    GenevestigatoriQ9UBB4.

    Organism-specific databases

    HPAiHPA049531.

    Interactioni

    Subunit structurei

    Homooligomer By similarity. Interacts with OGT By similarity. Interacts with GNB2. Interacts with IQCB1.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi117343. 22 interactions.
    IntActiQ9UBB4. 4 interactions.
    MINTiMINT-5006669.
    STRINGi9606.ENSP00000252934.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBB4.
    SMRiQ9UBB4. Positions 134-181.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ataxin-10 family.Curated

    Phylogenomic databases

    eggNOGiNOG330117.
    HOGENOMiHOG000034224.
    HOVERGENiHBG050622.
    OMAiNNQERVT.
    OrthoDBiEOG7WHH9W.
    PhylomeDBiQ9UBB4.
    TreeFamiTF323870.

    Family and domain databases

    Gene3Di1.25.10.10. 2 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR019156. Ataxin-10_domain.
    [Graphical view]
    PfamiPF09759. Atx10homo_assoc. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UBB4-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRE TAPRTIFQRV    50
    LDILKKSSHA VELACRDPSQ VENLASSLQL ITECFRCLRN ACIECSVNQN 100
    SIRNLDTIGV AVDLILLFRE LRVEQESLLT AFRCGLQFLG NIASRNEDSQ 150
    SIVWVHAFPE LFLSCLNHPD KKIVAYSSMI LFTSLNHERM KELEENLNIA 200
    IDVIDAYQKH PESEWPFLII TDLFLKSPEL VQAMFPKLNN QERVTLLDLM 250
    IAKITSDEPL TKDDIPVFLR HAELIASTFV DQCKTVLKLA SEEPPDDEEA 300
    LATIRLLDVL CEMTVNTELL GYLQVFPGLL ERVIDLLRVI HVAGKETTNI 350
    FSNCGCVRAE GDISNVANGF KSHLIRLIGN LCYKNKDNQD KVNELDGIPL 400
    ILDNCNISDS NPFLTQWVIY AIRNLTEDNS QNQDLIAKME EQGLADASLL 450
    KKVGFEVEKK GEKLILKSTR DTPKP 475
    Length:475
    Mass (Da):53,489
    Last modified:May 1, 2000 - v1
    Checksum:iFD02130EC86D1A3A
    GO
    Isoform 2 (identifier: Q9UBB4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         40-103: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:411
    Mass (Da):46,286
    Checksum:i4CC979B21A9AC137
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei40 – 10364Missing in isoform 2. 1 PublicationVSP_042526Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL050282 mRNA. Translation: CAB43383.1.
    AF119662 mRNA. Translation: AAF17219.1.
    CR457381 mRNA. Translation: CAG33662.1.
    CR456568 mRNA. Translation: CAG30454.1.
    AK294348 mRNA. Translation: BAG57616.1.
    Z84478, Z93784, Z95331 Genomic DNA. Translation: CAI20373.1.
    Z93784, Z84478, Z95331 Genomic DNA. Translation: CAI20419.1.
    Z95331, Z84478, Z93784 Genomic DNA. Translation: CAI41716.1.
    BC007508 mRNA. Translation: AAH07508.1.
    CCDSiCCDS14070.1. [Q9UBB4-1]
    CCDS54540.1. [Q9UBB4-2]
    PIRiT08753.
    RefSeqiNP_001161093.1. NM_001167621.1. [Q9UBB4-2]
    NP_037368.1. NM_013236.3. [Q9UBB4-1]
    UniGeneiHs.475125.

    Genome annotation databases

    EnsembliENST00000252934; ENSP00000252934; ENSG00000130638. [Q9UBB4-1]
    ENST00000381061; ENSP00000370449; ENSG00000130638. [Q9UBB4-2]
    GeneIDi25814.
    KEGGihsa:25814.
    UCSCiuc003bgm.2. human. [Q9UBB4-1]
    uc011aqt.2. human. [Q9UBB4-2]

    Polymorphism databases

    DMDMi17372671.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL050282 mRNA. Translation: CAB43383.1 .
    AF119662 mRNA. Translation: AAF17219.1 .
    CR457381 mRNA. Translation: CAG33662.1 .
    CR456568 mRNA. Translation: CAG30454.1 .
    AK294348 mRNA. Translation: BAG57616.1 .
    Z84478 , Z93784 , Z95331 Genomic DNA. Translation: CAI20373.1 .
    Z93784 , Z84478 , Z95331 Genomic DNA. Translation: CAI20419.1 .
    Z95331 , Z84478 , Z93784 Genomic DNA. Translation: CAI41716.1 .
    BC007508 mRNA. Translation: AAH07508.1 .
    CCDSi CCDS14070.1. [Q9UBB4-1 ]
    CCDS54540.1. [Q9UBB4-2 ]
    PIRi T08753.
    RefSeqi NP_001161093.1. NM_001167621.1. [Q9UBB4-2 ]
    NP_037368.1. NM_013236.3. [Q9UBB4-1 ]
    UniGenei Hs.475125.

    3D structure databases

    ProteinModelPortali Q9UBB4.
    SMRi Q9UBB4. Positions 134-181.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117343. 22 interactions.
    IntActi Q9UBB4. 4 interactions.
    MINTi MINT-5006669.
    STRINGi 9606.ENSP00000252934.

    PTM databases

    PhosphoSitei Q9UBB4.

    Polymorphism databases

    DMDMi 17372671.

    Proteomic databases

    MaxQBi Q9UBB4.
    PaxDbi Q9UBB4.
    PeptideAtlasi Q9UBB4.
    PRIDEi Q9UBB4.

    Protocols and materials databases

    DNASUi 25814.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252934 ; ENSP00000252934 ; ENSG00000130638 . [Q9UBB4-1 ]
    ENST00000381061 ; ENSP00000370449 ; ENSG00000130638 . [Q9UBB4-2 ]
    GeneIDi 25814.
    KEGGi hsa:25814.
    UCSCi uc003bgm.2. human. [Q9UBB4-1 ]
    uc011aqt.2. human. [Q9UBB4-2 ]

    Organism-specific databases

    CTDi 25814.
    GeneCardsi GC22P046067.
    GeneReviewsi ATXN10.
    HGNCi HGNC:10549. ATXN10.
    HPAi HPA049531.
    MIMi 603516. phenotype.
    611150. gene.
    neXtProti NX_Q9UBB4.
    Orphaneti 220497. Joubert syndrome with renal defect.
    98761. Spinocerebellar ataxia type 10.
    PharmGKBi PA34959.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG330117.
    HOGENOMi HOG000034224.
    HOVERGENi HBG050622.
    OMAi NNQERVT.
    OrthoDBi EOG7WHH9W.
    PhylomeDBi Q9UBB4.
    TreeFami TF323870.

    Miscellaneous databases

    GeneWikii ATXN10.
    GenomeRNAii 25814.
    NextBioi 47043.
    PROi Q9UBB4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBB4.
    Bgeei Q9UBB4.
    CleanExi HS_ATXN10.
    Genevestigatori Q9UBB4.

    Family and domain databases

    Gene3Di 1.25.10.10. 2 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR019156. Ataxin-10_domain.
    [Graphical view ]
    Pfami PF09759. Atx10homo_assoc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Uterus.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Adrenal gland and Hypothalamus.
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Amygdala.
    6. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Ovary.
    8. "Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons."
      Maerz P., Probst A., Lang S., Schwager M., Rose-John S., Otten U., Ozbek S.
      J. Biol. Chem. 279:35542-35550(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. "Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit."
      Waragai M., Nagamitsu S., Xu W., Li Y.J., Lin X., Ashizawa T.
      J. Neurosci. Res. 83:1170-1178(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH GNB2.
    10. Cited for: INVOLVEMENT IN SCA10.
    11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: INTERACTION WITH IQCB1, INVOLVEMENT IN NEPHRONOPHTHISIS.

    Entry informationi

    Entry nameiATX10_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBB4
    Secondary accession number(s): A6NLC4
    , B4DG05, O14998, O15009, Q6I9X4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3