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Protein

Ataxin-1-like

Gene

ATXN1L

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

Functioni

Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-1-like
Alternative name(s):
Brother of ataxin-1
Short name:
Brother of ATXN1
Gene namesi
Name:ATXN1L
Synonyms:BOAT, BOAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:33279. ATXN1L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377321.

Polymorphism and mutation databases

DMDMi206557834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 689689Ataxin-1-likePRO_0000343709Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei284 – 2841PhosphoserineCombined sources
Modified residuei361 – 3611PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP0C7T5.
MaxQBiP0C7T5.
PaxDbiP0C7T5.
PRIDEiP0C7T5.

PTM databases

iPTMnetiP0C7T5.
PhosphoSiteiP0C7T5.

Expressioni

Tissue specificityi

Expressed in cerebellum and cerebral cortex.1 Publication

Gene expression databases

BgeeiP0C7T5.
CleanExiHS_ATXN1L.
GenevisibleiP0C7T5. HS.

Interactioni

Subunit structurei

Homodimer. Interacts with CIC (By similarity). Interacts (via AXH domain) with NCOR2. Interacts with ATXN1. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1 for RBPJ-binding.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RBPJQ063307EBI-8624731,EBI-632552

Protein-protein interaction databases

BioGridi131172. 68 interactions.
IntActiP0C7T5. 4 interactions.
MINTiMINT-8176805.
STRINGi9606.ENSP00000415822.

Structurei

3D structure databases

ProteinModelPortaliP0C7T5.
SMRiP0C7T5. Positions 468-582.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini457 – 588132AXHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni20 – 197178Interaction with NCOR2 and ATXN1Add
BLAST
Regioni20 – 197178Self-associationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi88 – 256169Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the ATXN1 family.Curated
Contains 1 AXH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4053. Eukaryota.
ENOG410XSNX. LUCA.
GeneTreeiENSGT00390000005939.
HOGENOMiHOG000034225.
HOVERGENiHBG100955.
InParanoidiP0C7T5.
OMAiTSCSTNH.
OrthoDBiEOG7PGDQ2.
PhylomeDBiP0C7T5.
TreeFamiTF350643.

Family and domain databases

Gene3Di2.170.16.10. 1 hit.
InterProiIPR003652. Ataxin_AXH_dom.
IPR028992. Hedgehog/Intein_dom.
[Graphical view]
PfamiPF08517. AXH. 1 hit.
[Graphical view]
SMARTiSM00536. AXH. 1 hit.
[Graphical view]
SUPFAMiSSF102031. SSF102031. 1 hit.
PROSITEiPS51148. AXH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P0C7T5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKPVHERSQE CLPPKKRDLP VTSEDMGRTT SCSTNHTPSS DASEWSRGVV
60 70 80 90 100
VAGQSQAGAR VSLGGDGAEA ITGLTVDQYG MLYKVAVPPA TFSPTGLPSV
110 120 130 140 150
VNMSPLPPTF NVASSLIQHP GIHYPPLHYA QLPSTSLQFI GSPYSLPYAV
160 170 180 190 200
PPNFLPSPLL SPSANLATSH LPHFVPYASL LAEGATPPPQ APSPAHSFNK
210 220 230 240 250
APSATSPSGQ LPHHSSTQPL DLAPGRMPIY YQMSRLPAGY TLHETPPAGA
260 270 280 290 300
SPVLTPQESQ SALEAAAANG GQRPRERNLV RRESEALDSP NSKGEGQGLV
310 320 330 340 350
PVVECVVDGQ LFSGSQTPRV EVAAPAHRGT PDTDLEVQRV VGALASQDYR
360 370 380 390 400
VVAAQRKEEP SPLNLSHHTP DHQGEGRGSA RNPAELAEKS QARGFYPQSH
410 420 430 440 450
QEPVKHRPLP KAMVVANGNL VPTGTDSGLL PVGSEILVAS SLDVQARATF
460 470 480 490 500
PDKEPTPPPI TSSHLPSHFM KGAIIQLATG ELKRVEDLQT QDFVRSAEVS
510 520 530 540 550
GGLKIDSSTV VDIQESQWPG FVMLHFVVGE QQSKVSIEVP PEHPFFVYGQ
560 570 580 590 600
GWSSCSPGRT TQLFSLPCHR LQVGDVCISI SLQSLNSNSV SQASCAPPSQ
610 620 630 640 650
LGPPRERPER TVLGSRELCD SEGKSQPAGE GSRVVEPSQP ESGAQACWPA
660 670 680
PSFQRYSMQG EEARAALLRP SFIPQEVKLS IEGRSNAGK
Length:689
Mass (Da):73,306
Last modified:July 22, 2008 - v1
Checksum:i9C5D3938EF91F2C7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti313 – 3131S → P.
Corresponds to variant rs7194407 [ dbSNP | Ensembl ].
VAR_044496

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010653 Genomic DNA. No translation available.
BX537575 mRNA. No translation available.
CCDSiCCDS45523.1.
RefSeqiNP_001131147.1. NM_001137675.3.
UniGeneiHs.743239.

Genome annotation databases

EnsembliENST00000427980; ENSP00000415822; ENSG00000224470.
GeneIDi342371.
KEGGihsa:342371.
UCSCiuc002fbd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010653 Genomic DNA. No translation available.
BX537575 mRNA. No translation available.
CCDSiCCDS45523.1.
RefSeqiNP_001131147.1. NM_001137675.3.
UniGeneiHs.743239.

3D structure databases

ProteinModelPortaliP0C7T5.
SMRiP0C7T5. Positions 468-582.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131172. 68 interactions.
IntActiP0C7T5. 4 interactions.
MINTiMINT-8176805.
STRINGi9606.ENSP00000415822.

PTM databases

iPTMnetiP0C7T5.
PhosphoSiteiP0C7T5.

Polymorphism and mutation databases

DMDMi206557834.

Proteomic databases

EPDiP0C7T5.
MaxQBiP0C7T5.
PaxDbiP0C7T5.
PRIDEiP0C7T5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000427980; ENSP00000415822; ENSG00000224470.
GeneIDi342371.
KEGGihsa:342371.
UCSCiuc002fbd.3. human.

Organism-specific databases

CTDi342371.
GeneCardsiATXN1L.
H-InvDBHIX0013220.
HGNCiHGNC:33279. ATXN1L.
MIMi614301. gene.
neXtProtiNX_P0C7T5.
PharmGKBiPA162377321.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4053. Eukaryota.
ENOG410XSNX. LUCA.
GeneTreeiENSGT00390000005939.
HOGENOMiHOG000034225.
HOVERGENiHBG100955.
InParanoidiP0C7T5.
OMAiTSCSTNH.
OrthoDBiEOG7PGDQ2.
PhylomeDBiP0C7T5.
TreeFamiTF350643.

Miscellaneous databases

ChiTaRSiATXN1L. human.
GenomeRNAii342371.
NextBioi98271.
PROiP0C7T5.
SOURCEiSearch...

Gene expression databases

BgeeiP0C7T5.
CleanExiHS_ATXN1L.
GenevisibleiP0C7T5. HS.

Family and domain databases

Gene3Di2.170.16.10. 1 hit.
InterProiIPR003652. Ataxin_AXH_dom.
IPR028992. Hedgehog/Intein_dom.
[Graphical view]
PfamiPF08517. AXH. 1 hit.
[Graphical view]
SMARTiSM00536. AXH. 1 hit.
[Graphical view]
SUPFAMiSSF102031. SSF102031. 1 hit.
PROSITEiPS51148. AXH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1."
    Mizutani A., Wang L., Rajan H., Vig P.J.S., Alaynick W.A., Thaler J.P., Tsai C.-C.
    EMBO J. 24:3339-3351(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NCOR2 AND ATXN1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-284, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway."
    Tong X., Gui H., Jin F., Heck B.W., Lin P., Ma J., Fondell J.D., Tsai C.C.
    EMBO Rep. 12:428-435(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RBPJ.
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-361, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiATX1L_HUMAN
AccessioniPrimary (citable) accession number: P0C7T5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: May 11, 2016
This is version 70 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. 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.