Q9UBB4 (ATX10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ataxin-10

Alternative name(s):
Brain protein E46 homolog
Spinocerebellar ataxia type 10 protein

Gene names

Name:	ATXN10
Synonyms:	SCA10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	475 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › perinuclear 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.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Neurodegeneration Spinocerebellar ataxia
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW neuron projection development Inferred from direct assay Ref.9. Source: UniProtKB
Cellular_component	cytosol Inferred from electronic annotation. Source: Compara dendrite Inferred from direct assay Ref.8. Source: UniProtKB neuronal cell body Inferred from direct assay Ref.8. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay Ref.8Ref.9. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 475	475	Ataxin-10		PRO_0000064748
Amino acid modifications
	Modified residue	12	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	40 – 103	64	Missing in isoform 2.		VSP_042526

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: FD02130EC86D1A3A	FASTA	475	53,489
	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
	Isoform 2 [UniParc]. Checksum: 4CC979B21A9AC137	FASTA	411	46,286
	10 20 30 40 50 60 MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRN LDTIGVAVDL ILLFRELRVE 70 80 90 100 110 120 QESLLTAFRC GLQFLGNIAS RNEDSQSIVW VHAFPELFLS CLNHPDKKIV AYSSMILFTS 130 140 150 160 170 180 LNHERMKELE ENLNIAIDVI DAYQKHPESE WPFLIITDLF LKSPELVQAM FPKLNNQERV 190 200 210 220 230 240 TLLDLMIAKI TSDEPLTKDD IPVFLRHAEL IASTFVDQCK TVLKLASEEP PDDEEALATI 250 260 270 280 290 300 RLLDVLCEMT VNTELLGYLQ VFPGLLERVI DLLRVIHVAG KETTNIFSNC GCVRAEGDIS 310 320 330 340 350 360 NVANGFKSHL IRLIGNLCYK NKDNQDKVNE LDGIPLILDN CNISDSNPFL TQWVIYAIRN 370 380 390 400 410 LTEDNSQNQD LIAKMEEQGL ADASLLKKVG FEVEKKGEKL ILKSTRDTPK P

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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]	"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, MASS SPECTROMETRY. 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. , 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.

Web resources

GeneReviews

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.
IPI	IPI00940152. IPI01019005.
PIR	T08753.
RefSeq	NP_001161093.1. NM_001167621.1. NP_037368.1. NM_013236.3.
UniGene	Hs.475125.
3D structure databases
ProteinModelPortal	Q9UBB4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UBB4. 4 interactions.
STRING	9606.ENSP00000252934.
PTM databases
PhosphoSite	Q9UBB4.
Polymorphism databases
DMDM	17372671.
Proteomic databases
PaxDb	Q9UBB4.
PeptideAtlas	Q9UBB4.
PRIDE	Q9UBB4.
Protocols and materials databases
DNASU	25814.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252934; ENSP00000252934; ENSG00000130638. ENST00000381061; ENSP00000370449; ENSG00000130638.
GeneID	25814.
KEGG	hsa:25814.
UCSC	uc003bgm.2. human.
Organism-specific databases
CTD	25814.
GeneCards	GC22P046067.
HGNC	HGNC:10549. ATXN10.
HPA	HPA049531.
MIM	603516. phenotype. 611150. gene.
neXtProt	NX_Q9UBB4.
Orphanet	220497. Joubert syndrome with renal defect. 98761. Spinocerebellar ataxia type 10.
PharmGKB	PA34959.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG330117.
HOGENOM	HOG000034224.
HOVERGEN	HBG050622.
OMA	PIQDLEA.
OrthoDB	EOG40ZQXH.
PhylomeDB	Q9UBB4.
Gene expression databases
ArrayExpress	Q9UBB4.
Bgee	Q9UBB4.
CleanEx	HS_ATXN10.
Genevestigator	Q9UBB4.
GermOnline	ENSG00000130638. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 2 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR019156. Ataxin-10_domain. [Graphical view]
Pfam	PF09759. Atx10homo_assoc. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	25814.
NextBio	47043.
SOURCE	Search...

Entry information

Entry name

ATX10_HUMAN

Accession

Primary (citable) accession number: Q9UBB4
Secondary accession number(s): A6NLC4 , B4DG05, O14998, O15009, Q6I9X4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 109 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.