UniProtKB - Q9UBB4 (ATX10_HUMAN)
Protein
Ataxin-10
Gene
ATXN10
Organism
Homo sapiens (Human)
Status
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
- enzyme binding Source: Ensembl
- identical protein binding Source: Ensembl
GO - Biological processi
- cilium assembly Source: Ensembl
- nervous system development Source: UniProtKB
- neuron projection development Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9UBB4 |
SIGNORi | Q9UBB4 |
Names & Taxonomyi
Protein namesi | Recommended name: Ataxin-10Alternative name(s): Brain protein E46 homolog Spinocerebellar ataxia type 10 protein |
Gene namesi | Name:ATXN10 Synonyms:SCA10 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10549, ATXN10 |
MIMi | 611150, gene |
neXtProti | NX_Q9UBB4 |
VEuPathDBi | HostDB:ENSG00000130638.15 |
Subcellular locationi
Other locations
- perinuclear region 1 Publication
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular space Source: UniProtKB
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- dendrite Source: UniProtKB
- membrane Source: UniProtKB
- neuronal cell body Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 10 (SCA10)1 Publication
The disease is caused by variants 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).
Related information in OMIMDefects 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 ataxiaOrganism-specific databases
DisGeNETi | 25814 |
GeneReviewsi | ATXN10 |
MalaCardsi | ATXN10 |
MIMi | 603516, phenotype |
OpenTargetsi | ENSG00000130638 |
Orphaneti | 98761, Spinocerebellar ataxia type 10 |
PharmGKBi | PA34959 |
Miscellaneous databases
Pharosi | Q9UBB4, Tbio |
Genetic variation databases
BioMutai | ATXN10 |
DMDMi | 17372671 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064748 | 1 – 475 | Ataxin-10Add BLAST | 475 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 10 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 12 | PhosphoserineCombined sources | 1 | |
Modified residuei | 430 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q9UBB4 |
jPOSTi | Q9UBB4 |
MassIVEi | Q9UBB4 |
MaxQBi | Q9UBB4 |
PaxDbi | Q9UBB4 |
PeptideAtlasi | Q9UBB4 |
PRIDEi | Q9UBB4 |
ProteomicsDBi | 83921 [Q9UBB4-1] 83922 [Q9UBB4-2] |
PTM databases
CarbonylDBi | Q9UBB4 |
iPTMneti | Q9UBB4 |
MetOSitei | Q9UBB4 |
PhosphoSitePlusi | Q9UBB4 |
SwissPalmi | Q9UBB4 |
Expressioni
Tissue specificityi
Expressed in the central nervous system.1 Publication
Gene expression databases
Bgeei | ENSG00000130638, Expressed in ventricular zone and 244 other tissues |
ExpressionAtlasi | Q9UBB4, baseline and differential |
Genevisiblei | Q9UBB4, HS |
Organism-specific databases
HPAi | ENSG00000130638, Low tissue specificity |
Interactioni
Subunit structurei
Homooligomer (By similarity).
Interacts with OGT (By similarity).
Interacts with GNB2.
Interacts with IQCB1.
By similarity2 PublicationsBinary interactionsi
Hide detailsQ9UBB4
GO - Molecular functioni
- enzyme binding Source: Ensembl
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 117343, 71 interactors |
IntActi | Q9UBB4, 84 interactors |
MINTi | Q9UBB4 |
STRINGi | 9606.ENSP00000252934 |
Miscellaneous databases
RNActi | Q9UBB4, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the ataxin-10 family.Curated
Phylogenomic databases
eggNOGi | KOG2676, Eukaryota |
GeneTreei | ENSGT00390000010377 |
HOGENOMi | CLU_046084_1_0_1 |
InParanoidi | Q9UBB4 |
OMAi | KIVAYCS |
OrthoDBi | 1416864at2759 |
PhylomeDBi | Q9UBB4 |
TreeFami | TF323870 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR019156, Ataxin-10_domain |
Pfami | View protein in Pfam PF09759, Atx10homo_assoc, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UBB4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PQD2 | A0A1W2PQD2_HUMAN | Ataxin-10 | ATXN10 | 395 | Annotation score: | ||
B1AHE3 | B1AHE3_HUMAN | Ataxin-10 | ATXN10 | 126 | Annotation score: | ||
B1AHE4 | B1AHE4_HUMAN | Ataxin-10 | ATXN10 | 197 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042526 | 40 – 103 | Missing in isoform 2. 1 PublicationAdd BLAST | 64 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000252934; ENSP00000252934; ENSG00000130638 [Q9UBB4-1] ENST00000381061; ENSP00000370449; ENSG00000130638 [Q9UBB4-2] |
GeneIDi | 25814 |
KEGGi | hsa:25814 |
UCSCi | uc003bgm.3, human [Q9UBB4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 Genomic DNA No translation available. Z93784 Genomic DNA No translation available. Z95331 Genomic DNA No translation available. 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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117343, 71 interactors |
IntActi | Q9UBB4, 84 interactors |
MINTi | Q9UBB4 |
STRINGi | 9606.ENSP00000252934 |
PTM databases
CarbonylDBi | Q9UBB4 |
iPTMneti | Q9UBB4 |
MetOSitei | Q9UBB4 |
PhosphoSitePlusi | Q9UBB4 |
SwissPalmi | Q9UBB4 |
Genetic variation databases
BioMutai | ATXN10 |
DMDMi | 17372671 |
Proteomic databases
EPDi | Q9UBB4 |
jPOSTi | Q9UBB4 |
MassIVEi | Q9UBB4 |
MaxQBi | Q9UBB4 |
PaxDbi | Q9UBB4 |
PeptideAtlasi | Q9UBB4 |
PRIDEi | Q9UBB4 |
ProteomicsDBi | 83921 [Q9UBB4-1] 83922 [Q9UBB4-2] |
Protocols and materials databases
Antibodypediai | 27938, 186 antibodies |
DNASUi | 25814 |
Genome annotation databases
Ensembli | ENST00000252934; ENSP00000252934; ENSG00000130638 [Q9UBB4-1] ENST00000381061; ENSP00000370449; ENSG00000130638 [Q9UBB4-2] |
GeneIDi | 25814 |
KEGGi | hsa:25814 |
UCSCi | uc003bgm.3, human [Q9UBB4-1] |
Organism-specific databases
CTDi | 25814 |
DisGeNETi | 25814 |
GeneCardsi | ATXN10 |
GeneReviewsi | ATXN10 |
HGNCi | HGNC:10549, ATXN10 |
HPAi | ENSG00000130638, Low tissue specificity |
MalaCardsi | ATXN10 |
MIMi | 603516, phenotype 611150, gene |
neXtProti | NX_Q9UBB4 |
OpenTargetsi | ENSG00000130638 |
Orphaneti | 98761, Spinocerebellar ataxia type 10 |
PharmGKBi | PA34959 |
VEuPathDBi | HostDB:ENSG00000130638.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2676, Eukaryota |
GeneTreei | ENSGT00390000010377 |
HOGENOMi | CLU_046084_1_0_1 |
InParanoidi | Q9UBB4 |
OMAi | KIVAYCS |
OrthoDBi | 1416864at2759 |
PhylomeDBi | Q9UBB4 |
TreeFami | TF323870 |
Enzyme and pathway databases
PathwayCommonsi | Q9UBB4 |
SIGNORi | Q9UBB4 |
Miscellaneous databases
BioGRID-ORCSi | 25814, 340 hits in 889 CRISPR screens |
ChiTaRSi | ATXN10, human |
GeneWikii | ATXN10 |
GenomeRNAii | 25814 |
Pharosi | Q9UBB4, Tbio |
PROi | PR:Q9UBB4 |
RNActi | Q9UBB4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130638, Expressed in ventricular zone and 244 other tissues |
ExpressionAtlasi | Q9UBB4, baseline and differential |
Genevisiblei | Q9UBB4, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR019156, Ataxin-10_domain |
Pfami | View protein in Pfam PF09759, Atx10homo_assoc, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATX10_HUMAN | |
Accessioni | Q9UBB4Primary (citable) accession number: Q9UBB4 Secondary accession number(s): A6NLC4 Q6I9X4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 18, 2001 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 182 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families