Atrophin-1 - Mus musculus (Mouse)

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O35126 (ATN1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 80. History...

Clusters with 100%, 90%, 50% identity |

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Atrophin-1

Alternative name(s):
Dentatorubral-pallidoluysian atrophy protein homolog

Gene names

Name:	Atn1
Synonyms:	Drpla

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1175 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional corepressor. Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of the poly-Q repeats By similarity. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation. Ref.5 Ref.8
Subunit structure	Interacts with BAIAP2, WWP1, WWP2, WWP3 and RERE. Interacts (via its N-terminus) with MTG8; the interaction enhances transcriptional repression of MTG8 By similarity. Interacts with NR2E1; the interaction represses the transcriptional activity of NR2E1. Interacts with FAT1 (via a C-terminus domain). Ref.5 Ref.8
Subcellular location	Nucleus. Cytoplasm › perinuclear region. Cell junction By similarity. Nucleus By similarity. Note: Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells. Colocalizes with MTG8 in discrete nuclear dots By similarity.
Tissue specificity	Widely expressed. Most abundant in the brain. Ref.1
Developmental stage	Expressed as early as 5 days and thereafter shows little variation throughout 17 days. Ref.1
Induction	In vascular smooth muscle, induced by angiotensin II, FGF; PGF and IL1B. Ref.8
Post-translational modification	Phosphorylated in vitro by MAPK8/JNK1 on Ser-724 By similarity.
Polymorphism	The poly-Gln region of Atn1 is polymorphic (3 to 8 repeats).
Miscellaneous	The mouse model of DRPLA with 129 CAG repeats (Q129) exhibited severe neurological defects similar to those of juvenile-onset DRPLA patients including age-dependent and region-specific presynaptic dysfunction in the globus pallidus and cerebellum. Progressive shrinkage of distal dendrites of Purkinje cells and decreased currents through alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid and gamma-aminobutyrate type A receptors in CA1 neurons was observed. There is progressive brain atrophy.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cell junction Cytoplasm Nucleus
Coding sequence diversity	Polymorphism Triplet repeat expansion
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell migration Inferred from direct assay Ref.8. Source: UniProtKB maintenance of cell polarity Inferred from direct assay Ref.8. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay Ref.5. Source: MGI neuron apoptotic process Inferred from electronic annotation. Source: Compara toxin metabolic process Inferred from direct assay PubMed 12464607. Source: MGI transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from direct assay PubMed 12464607. Source: MGI nuclear matrix Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay PubMed 12464607. Source: MGI perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	toxin receptor binding Inferred from direct assay PubMed 12464607. Source: MGI transcription corepressor activity Inferred from genetic interaction Ref.5. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1175

1175

Atrophin-1

PRO_0000356253

Regions

Region

503 – 553

Involved in binding BAIAP2 By similarity

Region

864 – 879

Required for interaction with FAT1 By similarity

Motif

16 – 32

Nuclear localization signal By similarity

Motif

1018 – 1026

Nuclear export signal By similarity

Compositional bias

166 – 172

Poly-Pro

Compositional bias

304 – 307

Poly-Pro

Compositional bias

378 – 383

Poly-Ser

Compositional bias

387 – 396

Poly-Ser

Compositional bias

441 – 446

Poly-Pro

Compositional bias

477 – 480

Poly-His

Compositional bias

481 – 487

Poly-Gln

Compositional bias

495 – 498

Poly-Pro

Compositional bias

555 – 564

Poly-Ser

Compositional bias

694 – 697

Poly-Pro

Compositional bias

792 – 805

Ala/Arg-rich

Compositional bias

806 – 817

Arg/Glu-rich (mixed charge)

Compositional bias

915 – 924

Arg/Glu-rich (mixed charge)

Compositional bias

1035 – 1062

His-rich

Sites

Site

109 – 110

Cleavage Potential

Amino acid modifications

Modified residue

Phosphoserine By similarity

Modified residue

Phosphoserine By similarity

Modified residue

Phosphoserine By similarity

Modified residue

101

Phosphoserine Ref.6

Modified residue

103

Phosphoserine By similarity

Modified residue

107

Phosphoserine By similarity

Modified residue

626

N6-acetyllysine By similarity

Modified residue

638

Phosphothreonine By similarity

Modified residue

646

Phosphoserine By similarity

Modified residue

724

Phosphoserine; by MAPK8 By similarity

Modified residue

731

Phosphoserine By similarity

Modified residue

733

Phosphoserine By similarity

Experimental info

Sequence conflict

452

A → G in BAA13450. Ref.1

Sequence conflict

495

P → A in BAA13450. Ref.1

Sequence conflict

532

P → A in BAA13450. Ref.1

Sequence conflict

691

S → L in BAA13450. Ref.1

Sequence conflict

734

P → A in BAA13450. Ref.1

Sequence conflict

766

D → T in BAA13450. Ref.1

Sequence conflict

926

D → N in BAA13450. Ref.1

Sequences

Sequence

Length

Mass (Da)

Tools

O35126 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 8BEFFAB75DDC0F36
Show »

FASTA

1,175

123,724

        10         20         30         40         50         60 
MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS RQTAKKARIE 

        70         80         90        100        110        120 
EPSAPKASKQ GRSEEISESE SEETSAPKKT KTEQELPRPQ SPSDLDSLDG RSINDDGSSD 

       130        140        150        160        170        180 
PRDIDQDNRS TSPSIYSPGS VENDSDSSSG LSQGPARPYH PPPLFPPSPP PPDSTPRQPE 

       190        200        210        220        230        240 
SGFEPHPSVP PTGYHAPMEP PTSRLFQGPP PGAPPTHPQL YPGNASGGVL SGPPMGPKGG 

       250        260        270        280        290        300 
AAASSVGAPS GGKQHPPPTT PIPISSSGAS GAPPAKPPSA PVGGGSLPSA PPPASFPHVT 

       310        320        330        340        350        360 
PNLPPPPALR PLNNASASPP GMGAQPIPGH LPSPHAMGQG MSGLPPGPEK GPTLAPSPHP 

       370        380        390        400        410        420 
LPPASSSAPG PPMRYPYSSS SSSAAASSSS SSSSASQYPA SQALPSYPHS FPPPTSMSVS 

       430        440        450        460        470        480 
NQPPKYTQPS LPSQAVWSQG PPPPPPYGRL LANNNTHPGP FPPTGGQSTA HPAAPTHHHH 

       490        500        510        520        530        540 
QQQPQQQHHH GNSGPPPPGA YPHPLESSNS HHAHPYNMSP SLGSLRPYPP GPAHLPPPHG 

       550        560        570        580        590        600 
QVSYNQAGPN GPPVSSSNSS GSSSQASYSC SHPSSSQGPQ GASYPFPPVP PVTTSSATLS 

       610        620        630        640        650        660 
TVIATVASSP AGYKTASPPG PPQYSKRAPS PGSYKTATPP GYKPGSPPSF RTGTPPGYRG 

       670        680        690        700        710        720 
TSPPAGPGTF KPGSPTVGPG PLPPAGPSSL SSLPPPPAAP TTGPPLTATQ IKQEPAEEYE 

       730        740        750        760        770        780 
PPESPVPPAR SPSPPPKVVD VPSHASQSAR FNKHLDRGFN SCARSDLYFV PLEGSKLAKK 

       790        800        810        820        830        840 
RADLVEKVRR EAEQRAREEK EREREREREK EREREKEREL ERSVKLAQEG RAPVECPSLG 

       850        860        870        880        890        900 
PVPHRPPFEP GSAVATVPPY LGPDTPALRT LSEYARPHVM SPGNRNHPFY VPLGAVDPGL 

       910        920        930        940        950        960 
LGYNVPALYS SDPAARERER EARERDLRDR LKPGFEVKPS ELEPLHGVPG PGLDPFPRHG 

       970        980        990       1000       1010       1020 
GLALQPGPPG LHPFPFHPSL GPLERERLAL AAGPALRPDM SYAERLAAER QHAERVAALG 

      1030       1040       1050       1060       1070       1080 
NDPLARLQML NVTPHHHQHS HIHSHLHLHQ QDAIHAASAS VHPLIDPLAS GSHLTRIPYP 

      1090       1100       1110       1120       1130       1140 
AGTLPNPLLP HPLHENEVLR HQLFAAPYRD LPASLSAPMS AAHQLQAMHA QSAELQRLAL 

      1150       1160       1170 
EQQQWLHAHH PLHSVPLPAQ EDYYSHLKKE SDKPL

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene." Oyake M., Onodera O., Shiroishi T., Takano H., Takahashi Y., Komonami R., Moriwaki K., Ikeuchi T., Igarashi S., Tanaka H., Tsuji S. Genomics 40:205-207(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, POLYMORPHISM OF POLY-GLN REGION.
[2]	"Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6." Ansari-Lari M.A., Oeltjen J.C., Schwartz S., Zhang Z., Muzny D.M., Lu J., Gorrell J.H., Chinault A.C., Belmont J.W., Miller W., Gibbs R.A. Genome Res. 8:29-40(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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]. Strain: C57BL/6. Tissue: Brain.
[5]	"Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1." Zhang C.L., Zou Y., Yu R.T., Gage F.H., Evans R.M. Genes Dev. 20:1308-1320(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NR2E1, FUNCTION.
[6]	"Large-scale phosphorylation analysis of mouse liver." Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101, MASS SPECTROMETRY. Tissue: Liver.
[7]	"Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice." Sato T., Miura M., Yamada M., Yoshida T., Wood J.D., Yazawa I., Masuda M., Suzuki T., Shin R.M., Yau H.J., Liu F.C., Shimohata T., Onodera O., Ross C.A., Katsuki M., Takahashi H., Kano M., Aosaki T., Tsuji S. Hum. Mol. Genet. 18:723-736(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERISTICS OF THE MOUSE MODEL OF DRPLA.
[8]	"Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells." Hou R., Sibinga N.E. J. Biol. Chem. 284:6955-6965(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FAT1, INDUCTION, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D87744 mRNA. Translation: BAA13450.1. AC002397 Genomic DNA. Translation: AAC36003.1. CH466523 Genomic DNA. Translation: EDK99754.1. CH466523 Genomic DNA. Translation: EDK99755.1. BC050920 mRNA. Translation: AAH50920.2. BC053051 mRNA. Translation: AAH53051.1.
IPI	IPI00858102.
RefSeq	NP_031907.2. NM_007881.4.
UniGene	Mm.333380.
3D structure databases
ProteinModelPortal	O35126.
ModBase	Search...
PTM databases
PhosphoSite	O35126.
Proteomic databases
PaxDb	O35126.
PRIDE	O35126.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000088357; ENSMUSP00000085695; ENSMUSG00000004263. ENSMUST00000129411; ENSMUSP00000115407; ENSMUSG00000004263.
GeneID	13498.
KEGG	mmu:13498.
UCSC	uc009drq.1. mouse.
Organism-specific databases
CTD	1822.
MGI	MGI:104725. Atn1.
Phylogenomic databases
eggNOG	NOG331121.
GeneTree	ENSGT00580000081398.
HOGENOM	HOG000231091.
HOVERGEN	HBG075369.
InParanoid	O35126.
KO	K05626.
OMA	ATFPHVT.
OrthoDB	EOG4RFKT4.
Gene expression databases
ArrayExpress	O35126.
Bgee	O35126.
Genevestigator	O35126.
Family and domain databases
InterPro	IPR017993. Atrophin-1. IPR002951. Atrophin-like. [Graphical view]
Pfam	PF03154. Atrophin-1. 2 hits. [Graphical view]
PRINTS	PR01222. ATROPHIN.
ProtoNet	Search...
Other
ChiTaRS	ATN1. mouse.
NextBio	284033.
SOURCE	Search...

Entry information

Entry name

ATN1_MOUSE

Accession

Primary (citable) accession number: O35126
Secondary accession number(s): P70200, Q80YQ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 16, 2008
Last sequence update:	January 1, 1998
Last modified:	April 3, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents