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Protein

Ataxin-7

Gene

ATXN7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.1 Publication

GO - Molecular functioni

GO - Biological processi

  • histone deubiquitination Source: UniProtKB
  • microtubule cytoskeleton organization Source: UniProtKB
  • negative regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
  • negative regulation of phosphorylation Source: Ensembl
  • nucleus organization Source: ProtInc
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB-KW
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163635-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.
R-HSA-5689880. Ub-specific processing proteases.
SIGNORiO15265.

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-7
Alternative name(s):
Spinocerebellar ataxia type 7 protein
Gene namesi
Name:ATXN7
Synonyms:SCA7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:10560. ATXN7.

Subcellular locationi

Isoform a :

GO - Cellular componenti

  • cytoplasm Source: HPA
  • microtubule cytoskeleton Source: UniProtKB
  • nuclear matrix Source: UniProtKB-SubCell
  • nucleolus Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • STAGA complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 7 (SCA7)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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.
See also OMIM:164500

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi257K → R: Almost completely abolishes sumoylation. 1 Publication1
Mutagenesisi858K → R: No effect on sumoylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi6314.
MalaCardsiATXN7.
MIMi164500. phenotype.
OpenTargetsiENSG00000163635.
Orphaneti94147. Spinocerebellar ataxia type 7.
PharmGKBiPA34973.

Polymorphism and mutation databases

BioMutaiATXN7.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647591 – 892Ataxin-7Add BLAST892

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki257Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

Post-translational modificationi

Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration.
Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiO15265.
PaxDbiO15265.
PeptideAtlasiO15265.
PRIDEiO15265.
TopDownProteomicsiO15265-2. [O15265-2]

PTM databases

iPTMnetiO15265.
PhosphoSitePlusiO15265.
SwissPalmiO15265.

Miscellaneous databases

PMAP-CutDBO15265.

Expressioni

Tissue specificityi

Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.

Gene expression databases

BgeeiENSG00000163635.
CleanExiHS_ATXN7.
ExpressionAtlasiO15265. baseline and differential.
GenevisibleiO15265. HS.

Organism-specific databases

HPAiHPA034989.

Interactioni

Subunit structurei

Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with SORBS1, PSMC1 and CRX. Interacts with TRRAP, GCN5L2 and TAF10. Interacts with alpha tubulin.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AGRNO004682EBI-708350,EBI-947482
CEP72Q9P2092EBI-708350,EBI-739498
His2B:CG33910P022832EBI-708350,EBI-188137From a different organism.
LTBP4Q8N2S12EBI-708350,EBI-947718
MATN2O003392EBI-708350,EBI-949020
MEGF6O750952EBI-708350,EBI-947597
MEGF8Q7Z7M02EBI-708350,EBI-947617
NOC2LQ9Y3T92EBI-708350,EBI-751547
NUP62P371982EBI-708350,EBI-347978
SIAH1Q8IUQ42EBI-708350,EBI-747107
SORBS1Q9BX6615EBI-708350,EBI-433642
TAF10Q129626EBI-708350,EBI-708376
TRRAPQ9Y4A56EBI-708350,EBI-399128

Protein-protein interaction databases

BioGridi112221. 85 interactors.
IntActiO15265. 59 interactors.
MINTiMINT-2862470.
STRINGi9606.ENSP00000381590.

Structurei

Secondary structure

1892
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni343 – 345Combined sources3
Turni352 – 354Combined sources3
Helixi369 – 374Combined sources6
Beta strandi378 – 380Combined sources3
Helixi382 – 393Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KKRNMR-A330-401[»]
ProteinModelPortaliO15265.
SMRiO15265.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15265.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini334 – 401SCA7PROSITE-ProRule annotationAdd BLAST68

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi16 – 20Poly-Ala5
Compositional biasi23 – 28Poly-Ala6
Compositional biasi30 – 49Gln-richAdd BLAST20
Compositional biasi30 – 39Poly-Gln10
Compositional biasi40 – 65Pro-richAdd BLAST26
Compositional biasi40 – 45Poly-Pro6
Compositional biasi51 – 55Poly-Pro5
Compositional biasi171 – 219Ser-richAdd BLAST49
Compositional biasi171 – 174Poly-Ser4
Compositional biasi213 – 219Poly-Ser7
Compositional biasi402 – 486Pro-richAdd BLAST85
Compositional biasi640 – 851Ser-richAdd BLAST212
Compositional biasi647 – 654Poly-Ser8
Compositional biasi717 – 730Poly-SerAdd BLAST14
Compositional biasi840 – 845Poly-Ser6

Sequence similaritiesi

Belongs to the ataxin-7 family.Curated
Contains 1 SCA7 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4140. Eukaryota.
ENOG4111ZIZ. LUCA.
GeneTreeiENSGT00530000063215.
HOGENOMiHOG000252910.
HOVERGENiHBG004320.
InParanoidiO15265.
KOiK11318.
OMAiNSTNCHN.
OrthoDBiEOG091G0253.
PhylomeDBiO15265.
TreeFamiTF331337.

Family and domain databases

InterProiIPR030706. ATXN7.
IPR013243. SCA7_dom.
[Graphical view]
PANTHERiPTHR15117:SF2. PTHR15117:SF2. 1 hit.
PfamiPF08313. SCA7. 1 hit.
[Graphical view]
PROSITEiPS51505. SCA7. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform a (identifier: O15265-1) [UniParc]FASTAAdd to basket
Also known as: Ataxin-7a

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
MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH
60 70 80 90 100
PPPPPRRTRP EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE
110 120 130 140 150
ASKLPGKDGT ELDESFKEFG KNREVMGLCR EDMPIFGFCP AHDDFYLVVC
160 170 180 190 200
NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV PPTSVFSFFP SLSKSKGGSA
210 220 230 240 250
SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP IQQSRVPHGR
260 270 280 290 300
IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL
310 320 330 340 350
PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI
360 370 380 390 400
DLDTKKPCTR SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR
410 420 430 440 450
HPDSQQPPQP LRDPHPAPPR TSQEPHQNPH GVIPSESKPF VASKPKPHTP
460 470 480 490 500
SLPRPPGCPA QQGGSAPIDP PPVHESPHPP LPATEPASRL SSEEGEGDDK
510 520 530 540 550
EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW NRLRCALNLM
560 570 580 590 600
VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS
610 620 630 640 650
TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS
660 670 680 690 700
SSPSTPSGLS SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS
710 720 730 740 750
GGSGKKRKNS SPLLVHSSSS SSSSSSSSHS MESFRKNCVA HSGPPYPSTV
760 770 780 790 800
TSSHSIGLNC VTNKANAVNV RHDQSGRGPP TGSPAESIKR MSVMVNSSDS
810 820 830 840 850
TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS PSSSSINNSS
860 870 880 890
SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP
Length:892
Mass (Da):95,451
Last modified:January 1, 1998 - v1
Checksum:i9AEA787D77103C5F
GO
Isoform b (identifier: O15265-2) [UniParc]FASTAAdd to basket
Also known as: Ataxin-7b, SCA7b

The sequence of this isoform differs from the canonical sequence as follows:
     888-892: PKARP → DISSPCLRTGISATSPQSPDLKSKGTSLTAENSTGRNNADTFEDKLHLHSALWTPRCL

Show »
Length:945
Mass (Da):101,112
Checksum:iB230F94D3D468D77
GO
Isoform 3 (identifier: O15265-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: MSERAADDVR...VKPQAFQSHY → MEGSKTPLQSSPSAQELKAPL

Note: No experimental confirmation available.
Show »
Length:747
Mass (Da):79,535
Checksum:iAE6215958E714C8E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti105P → H in AAC19162 (PubMed:9425224).Curated1
Sequence conflicti129C → S in AAC19162 (PubMed:9425224).Curated1
Sequence conflicti888 – 892PKARP → VGNGL in AAC39765 (PubMed:9425224).Curated5
Sequence conflicti888 – 892PKARP → VGNGL in AAC19163 (PubMed:9425224).Curated5

Polymorphismi

The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011823264K → R.2 PublicationsCorresponds to variant rs1053338dbSNPEnsembl.1
Natural variantiVAR_053779573I → V.Corresponds to variant rs3733124dbSNPEnsembl.1
Natural variantiVAR_011824663P → S.Corresponds to variant rs1053340dbSNPEnsembl.1
Natural variantiVAR_020143862V → M.2 PublicationsCorresponds to variant rs3774729dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0444561 – 166MSERA…FQSHY → MEGSKTPLQSSPSAQELKAP L in isoform 3. 1 PublicationAdd BLAST166
Alternative sequenceiVSP_007695888 – 892PKARP → DISSPCLRTGISATSPQSPD LKSKGTSLTAENSTGRNNAD TFEDKLHLHSALWTPRCL in isoform b. Curated5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000517 mRNA. Translation: CAA04154.1.
AF032102 Genomic DNA. Translation: AAC19162.1.
AF032103 mRNA. Translation: AAC19163.1.
AF032105 mRNA. Translation: AAC39765.1.
AK304062 mRNA. Translation: BAG64969.1.
AC012557 Genomic DNA. No translation available.
AC104162 Genomic DNA. No translation available.
AA398030 mRNA. No translation available.
CCDSiCCDS43102.1. [O15265-1]
CCDS46861.2. [O15265-3]
CCDS54603.1. [O15265-2]
PIRiT09193.
RefSeqiNP_000324.1. NM_000333.3. [O15265-1]
NP_001121621.2. NM_001128149.2. [O15265-3]
NP_001170858.1. NM_001177387.1. [O15265-2]
UniGeneiHs.476595.

Genome annotation databases

EnsembliENST00000295900; ENSP00000295900; ENSG00000163635. [O15265-1]
ENST00000484332; ENSP00000428277; ENSG00000163635. [O15265-3]
ENST00000487717; ENSP00000420234; ENSG00000163635. [O15265-1]
ENST00000538065; ENSP00000439585; ENSG00000163635. [O15265-2]
GeneIDi6314.
KEGGihsa:6314.
UCSCiuc003dlw.5. human. [O15265-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000517 mRNA. Translation: CAA04154.1.
AF032102 Genomic DNA. Translation: AAC19162.1.
AF032103 mRNA. Translation: AAC19163.1.
AF032105 mRNA. Translation: AAC39765.1.
AK304062 mRNA. Translation: BAG64969.1.
AC012557 Genomic DNA. No translation available.
AC104162 Genomic DNA. No translation available.
AA398030 mRNA. No translation available.
CCDSiCCDS43102.1. [O15265-1]
CCDS46861.2. [O15265-3]
CCDS54603.1. [O15265-2]
PIRiT09193.
RefSeqiNP_000324.1. NM_000333.3. [O15265-1]
NP_001121621.2. NM_001128149.2. [O15265-3]
NP_001170858.1. NM_001177387.1. [O15265-2]
UniGeneiHs.476595.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KKRNMR-A330-401[»]
ProteinModelPortaliO15265.
SMRiO15265.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112221. 85 interactors.
IntActiO15265. 59 interactors.
MINTiMINT-2862470.
STRINGi9606.ENSP00000381590.

PTM databases

iPTMnetiO15265.
PhosphoSitePlusiO15265.
SwissPalmiO15265.

Polymorphism and mutation databases

BioMutaiATXN7.

Proteomic databases

MaxQBiO15265.
PaxDbiO15265.
PeptideAtlasiO15265.
PRIDEiO15265.
TopDownProteomicsiO15265-2. [O15265-2]

Protocols and materials databases

DNASUi6314.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295900; ENSP00000295900; ENSG00000163635. [O15265-1]
ENST00000484332; ENSP00000428277; ENSG00000163635. [O15265-3]
ENST00000487717; ENSP00000420234; ENSG00000163635. [O15265-1]
ENST00000538065; ENSP00000439585; ENSG00000163635. [O15265-2]
GeneIDi6314.
KEGGihsa:6314.
UCSCiuc003dlw.5. human. [O15265-1]

Organism-specific databases

CTDi6314.
DisGeNETi6314.
GeneCardsiATXN7.
GeneReviewsiATXN7.
HGNCiHGNC:10560. ATXN7.
HPAiHPA034989.
MalaCardsiATXN7.
MIMi164500. phenotype.
607640. gene.
neXtProtiNX_O15265.
OpenTargetsiENSG00000163635.
Orphaneti94147. Spinocerebellar ataxia type 7.
PharmGKBiPA34973.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4140. Eukaryota.
ENOG4111ZIZ. LUCA.
GeneTreeiENSGT00530000063215.
HOGENOMiHOG000252910.
HOVERGENiHBG004320.
InParanoidiO15265.
KOiK11318.
OMAiNSTNCHN.
OrthoDBiEOG091G0253.
PhylomeDBiO15265.
TreeFamiTF331337.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163635-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.
R-HSA-5689880. Ub-specific processing proteases.
SIGNORiO15265.

Miscellaneous databases

ChiTaRSiATXN7. human.
EvolutionaryTraceiO15265.
GenomeRNAii6314.
PMAP-CutDBO15265.
PROiO15265.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163635.
CleanExiHS_ATXN7.
ExpressionAtlasiO15265. baseline and differential.
GenevisibleiO15265. HS.

Family and domain databases

InterProiIPR030706. ATXN7.
IPR013243. SCA7_dom.
[Graphical view]
PANTHERiPTHR15117:SF2. PTHR15117:SF2. 1 hit.
PfamiPF08313. SCA7. 1 hit.
[Graphical view]
PROSITEiPS51505. SCA7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATX7_HUMAN
AccessioniPrimary (citable) accession number: O15265
Secondary accession number(s): B4E207
, E9PHP9, O75328, O75329, Q9Y6P8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 2, 2016
This is version 163 of the entry and version 1 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.