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Q9UBB4 (ATX10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ataxin-10
Alternative name(s):
Brain protein E46 homolog
Spinocerebellar ataxia type 10 protein
Gene names
Name:ATXN10
Synonyms:SCA10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length475 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Homooligomer By similarity. Interacts with OGT By similarity. Interacts with GNB2. Interacts with IQCB1. Ref.9 Ref.13

Subcellular location

Cytoplasmperinuclear region Ref.9.

Tissue specificity

Expressed in the central nervous system. Ref.8

Involvement in disease

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

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.

Sequence similarities

Belongs to the ataxin-10 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UBB4-1)

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.
Isoform 2 (identifier: Q9UBB4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     40-103: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 475475Ataxin-10
PRO_0000064748

Amino acid modifications

Modified residue121Phosphoserine Ref.11

Natural variations

Alternative sequence40 – 10364Missing in isoform 2.
VSP_042526

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: FD02130EC86D1A3A

FASTA47553,489
        10         20         30         40         50         60 
MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRE TAPRTIFQRV LDILKKSSHA 

        70         80         90        100        110        120 
VELACRDPSQ VENLASSLQL ITECFRCLRN ACIECSVNQN SIRNLDTIGV AVDLILLFRE 

       130        140        150        160        170        180 
LRVEQESLLT AFRCGLQFLG NIASRNEDSQ SIVWVHAFPE LFLSCLNHPD KKIVAYSSMI 

       190        200        210        220        230        240 
LFTSLNHERM KELEENLNIA IDVIDAYQKH PESEWPFLII TDLFLKSPEL VQAMFPKLNN 

       250        260        270        280        290        300 
QERVTLLDLM IAKITSDEPL TKDDIPVFLR HAELIASTFV DQCKTVLKLA SEEPPDDEEA 

       310        320        330        340        350        360 
LATIRLLDVL CEMTVNTELL GYLQVFPGLL ERVIDLLRVI HVAGKETTNI FSNCGCVRAE 

       370        380        390        400        410        420 
GDISNVANGF KSHLIRLIGN LCYKNKDNQD KVNELDGIPL ILDNCNISDS NPFLTQWVIY 

       430        440        450        460        470 
AIRNLTEDNS QNQDLIAKME EQGLADASLL KKVGFEVEKK GEKLILKSTR DTPKP 

« Hide

Isoform 2 [UniParc].

Checksum: 4CC979B21A9AC137
Show »

FASTA41146,286

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[2]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
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]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10."
Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P., Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L., Achari M., Pulst S.M., Alonso E., Noebels J.L., Nelson D.L., Zoghbi H.Y., Ashizawa T.
Nat. Genet. 26:191-194(2000) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. expand/collapse author list , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH IQCB1, INVOLVEMENT IN NEPHRONOPHTHISIS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS14070.1. [Q9UBB4-1]
CCDS54540.1. [Q9UBB4-2]
PIRT08753.
RefSeqNP_001161093.1. NM_001167621.1. [Q9UBB4-2]
NP_037368.1. NM_013236.3. [Q9UBB4-1]
UniGeneHs.475125.

3D structure databases

ProteinModelPortalQ9UBB4.
SMRQ9UBB4. Positions 134-181.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117343. 22 interactions.
IntActQ9UBB4. 4 interactions.
MINTMINT-5006669.
STRING9606.ENSP00000252934.

PTM databases

PhosphoSiteQ9UBB4.

Polymorphism databases

DMDM17372671.

Proteomic databases

MaxQBQ9UBB4.
PaxDbQ9UBB4.
PeptideAtlasQ9UBB4.
PRIDEQ9UBB4.

Protocols and materials databases

DNASU25814.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252934; ENSP00000252934; ENSG00000130638. [Q9UBB4-1]
ENST00000381061; ENSP00000370449; ENSG00000130638. [Q9UBB4-2]
GeneID25814.
KEGGhsa:25814.
UCSCuc003bgm.2. human. [Q9UBB4-1]
uc011aqt.2. human. [Q9UBB4-2]

Organism-specific databases

CTD25814.
GeneCardsGC22P046067.
GeneReviewsATXN10.
HGNCHGNC:10549. ATXN10.
HPAHPA049531.
MIM603516. phenotype.
611150. gene.
neXtProtNX_Q9UBB4.
Orphanet220497. Joubert syndrome with renal defect.
98761. Spinocerebellar ataxia type 10.
PharmGKBPA34959.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG330117.
HOGENOMHOG000034224.
HOVERGENHBG050622.
OMANNQERVT.
OrthoDBEOG7WHH9W.
PhylomeDBQ9UBB4.
TreeFamTF323870.

Gene expression databases

ArrayExpressQ9UBB4.
BgeeQ9UBB4.
CleanExHS_ATXN10.
GenevestigatorQ9UBB4.

Family and domain databases

Gene3D1.25.10.10. 2 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR019156. Ataxin-10_domain.
[Graphical view]
PfamPF09759. Atx10homo_assoc. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

GeneWikiATXN10.
GenomeRNAi25814.
NextBio47043.
PROQ9UBB4.
SOURCESearch...

Entry information

Entry nameATX10_HUMAN
AccessionPrimary (citable) accession number: Q9UBB4
Secondary accession number(s): A6NLC4 expand/collapse secondary AC list , B4DG05, O14998, O15009, Q6I9X4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM