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Gene id 6310
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol ATXN1   Gene   UCSC   Ensembl
Aliases ATX1, D6S504E, SCA1
Gene name ataxin 1
Alternate names ataxin-1, alternative ataxin1, spinocerebellar ataxia type 1 protein,
Gene location 6p22.3 (16761489: 16299111)     Exons: 22     NC_000006.12
Gene summary(Entrez) The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA ty
OMIM 601556

Protein Summary
Protein general information P54253  

Name: Ataxin 1 (Spinocerebellar ataxia type 1 protein)

Length: 815  Mass: 86923

Tissue specificity: Widely expressed throughout the body. {ECO

Sequence MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRHGPAGTSVELGLQQGI
GLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYASFIPSQLIPP
TANPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQ
HLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHF
VPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRHVVVHPSPSDYSSRDP
SGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLPA
TAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTT
ALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQ
SAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSK
LSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKM
GLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
Structural information
Protein Domains
 (562..69-)
(/note="AXH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00496"-)
Interpro:  IPR003652  IPR036096  IPR040172  IPR020997  
Prosite:   PS51148

PDB:  		 1OA8 2M41 4APT 4AQP 4J2J 4J2L
PDBsum:   1OA8 2M41 4APT 4AQP 4J2J 4J2L

DIP:  
35353
MINT:  
STRING:   ENSP00000244769
Other Databases GeneCards:  ATXN1  Malacards:  ATXN1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0048856 anatomical structure deve
lopment
 IBA biological process
GO:0007399 nervous system developmen
t
 IBA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IBA biological process
GO:0005634 nucleus
 IBA cellular component
GO:0000122 negative regulation of tr
anscription by RNA polyme
rase II
 IBA biological process
GO:0035176 social behavior
 ISS biological process
GO:0007613 memory
 ISS biological process
GO:0007612 learning
 ISS biological process
GO:0007420 brain development
 ISS biological process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 IEA biological process
GO:0003723 RNA binding
 IEA molecular function
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0003723 RNA binding
 IEA molecular function
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0016363 nuclear matrix
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005730 nucleolus
 IDA cellular component
GO:0005829 cytosol
 IDA cellular component
GO:0042405 nuclear inclusion body
 IDA cellular component
GO:0008266 poly(U) RNA binding
 IDA molecular function
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0034046 poly(G) binding
 IDA molecular function
GO:0016363 nuclear matrix
 IDA cellular component
GO:0043621 protein self-association
 IDA molecular function
GO:0051168 nuclear export
 IDA biological process
GO:0005654 nucleoplasm
 IDA cellular component
GO:0008022 protein C-terminus bindin
g
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0008022 protein C-terminus bindin
g
 IPI molecular function
GO:0008022 protein C-terminus bindin
g
 IPI molecular function
GO:0006396 RNA processing
 NAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05017Spinocerebellar ataxia
hsa04330Notch signaling pathway

Diseases

Expand All | Collapse All
Associated diseases References
Spinocerebellar ataxia KEGG:H00063
Spinocerebellar ataxia KEGG:H00063
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 21412036
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21412036 Cryptorchi
dism
23 (4 controls,
19 cases)
 Male infertility GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract