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Protein

Ataxin-10

Gene

ATXN10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

  • cilium assembly Source: Ensembl
  • nervous system development Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • protein homotrimerization Source: Ensembl

Enzyme and pathway databases

SIGNORiQ9UBB4

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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000130638.15
HGNCiHGNC:10549 ATXN10
MIMi611150 gene
neXtProtiNX_Q9UBB4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 10 (SCA10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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).
See also OMIM:603516
Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy that leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia.1 Publication

Keywords - Diseasei

Ciliopathy, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi25814
GeneReviewsiATXN10
MalaCardsiATXN10
MIMi603516 phenotype
OpenTargetsiENSG00000130638
Orphaneti98761 Spinocerebellar ataxia type 10
PharmGKBiPA34959

Polymorphism and mutation databases

BioMutaiATXN10
DMDMi17372671

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647481 – 475Ataxin-10Add BLAST475

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10Omega-N-methylarginineBy similarity1
Modified residuei12PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9UBB4
MaxQBiQ9UBB4
PaxDbiQ9UBB4
PeptideAtlasiQ9UBB4
PRIDEiQ9UBB4
ProteomicsDBi83921
83922 [Q9UBB4-2]

PTM databases

CarbonylDBiQ9UBB4
iPTMnetiQ9UBB4
PhosphoSitePlusiQ9UBB4
SwissPalmiQ9UBB4

Expressioni

Tissue specificityi

Expressed in the central nervous system.1 Publication

Gene expression databases

BgeeiENSG00000130638 Expressed in 236 organ(s), highest expression level in cerebral cortex
CleanExiHS_ATXN10
ExpressionAtlasiQ9UBB4 baseline and differential
GenevisibleiQ9UBB4 HS

Organism-specific databases

HPAiHPA049531

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117343, 44 interactors
IntActiQ9UBB4, 36 interactors
MINTiQ9UBB4
STRINGi9606.ENSP00000252934

Structurei

3D structure databases

ProteinModelPortaliQ9UBB4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ataxin-10 family.Curated

Phylogenomic databases

eggNOGiKOG2676 Eukaryota
ENOG410YBUH LUCA
GeneTreeiENSGT00390000010377
HOGENOMiHOG000034224
HOVERGENiHBG050622
InParanoidiQ9UBB4
KOiK19323
OMAiDICAWES
OrthoDBiEOG091G05RO
PhylomeDBiQ9UBB4
TreeFamiTF323870

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR019156 Ataxin-10_domain
PfamiView protein in Pfam
PF09759 Atx10homo_assoc, 1 hit
SUPFAMiSSF48371 SSF48371, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AHE3B1AHE3_HUMAN
Ataxin-10
ATXN10
126Annotation score:
A0A1W2PQD2A0A1W2PQD2_HUMAN
Ataxin-10
ATXN10
395Annotation score:
B1AHE4B1AHE4_HUMAN
Ataxin-10
ATXN10
197Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04252640 – 103Missing in isoform 2. 1 PublicationAdd BLAST64

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 Genomic DNA No translation available.
Z93784 Genomic DNA No translation available.
Z95331 Genomic DNA No translation available.
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.3 human [Q9UBB4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiATX10_HUMAN
AccessioniPrimary (citable) accession number: Q9UBB4
Secondary accession number(s): A6NLC4
, B4DG05, O14998, O15009, Q6I9X4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: May 1, 2000
Last modified: September 12, 2018
This is version 162 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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