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Q9UBB4

- ATX10_HUMAN

UniProt

Q9UBB4 - ATX10_HUMAN

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Protein

Ataxin-10

Gene

ATXN10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - Biological processi

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

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
Complete GO annotation...

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.
Orphaneti98761. 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

BgeeiQ9UBB4.
CleanExiHS_ATXN10.
ExpressionAtlasiQ9UBB4. baseline and differential.
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. 5 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.
GeneTreeiENSGT00390000010377.
HOGENOMiHOG000034224.
HOVERGENiHBG050622.
InParanoidiQ9UBB4.
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

        10         20         30         40         50
MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRE TAPRTIFQRV
60 70 80 90 100
LDILKKSSHA VELACRDPSQ VENLASSLQL ITECFRCLRN ACIECSVNQN
110 120 130 140 150
SIRNLDTIGV AVDLILLFRE LRVEQESLLT AFRCGLQFLG NIASRNEDSQ
160 170 180 190 200
SIVWVHAFPE LFLSCLNHPD KKIVAYSSMI LFTSLNHERM KELEENLNIA
210 220 230 240 250
IDVIDAYQKH PESEWPFLII TDLFLKSPEL VQAMFPKLNN QERVTLLDLM
260 270 280 290 300
IAKITSDEPL TKDDIPVFLR HAELIASTFV DQCKTVLKLA SEEPPDDEEA
310 320 330 340 350
LATIRLLDVL CEMTVNTELL GYLQVFPGLL ERVIDLLRVI HVAGKETTNI
360 370 380 390 400
FSNCGCVRAE GDISNVANGF KSHLIRLIGN LCYKNKDNQD KVNELDGIPL
410 420 430 440 450
ILDNCNISDS NPFLTQWVIY AIRNLTEDNS QNQDLIAKME EQGLADASLL
460 470
KKVGFEVEKK GEKLILKSTR DTPKP
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 5 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 98761. Spinocerebellar ataxia type 10.
PharmGKBi PA34959.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG330117.
GeneTreei ENSGT00390000010377.
HOGENOMi HOG000034224.
HOVERGENi HBG050622.
InParanoidi Q9UBB4.
OMAi NNQERVT.
OrthoDBi EOG7WHH9W.
PhylomeDBi Q9UBB4.
TreeFami TF323870.

Miscellaneous databases

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

Gene expression databases

Bgeei Q9UBB4.
CleanExi HS_ATXN10.
ExpressionAtlasi Q9UBB4. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 124 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