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Protein

Ataxin-1-like

Gene

ATXN1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000224470.7
HGNCiHGNC:33279 ATXN1L
MIMi614301 gene
neXtProtiNX_P0C7T5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi342371
OpenTargetsiENSG00000224470
PharmGKBiPA162377321

Polymorphism and mutation databases

DMDMi206557834

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003437091 – 689Ataxin-1-likeAdd BLAST689

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei284PhosphoserineCombined sources1
Modified residuei330PhosphothreonineCombined sources1
Modified residuei361PhosphoserineCombined sources1
Modified residuei615PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP0C7T5
MaxQBiP0C7T5
PaxDbiP0C7T5
PeptideAtlasiP0C7T5
PRIDEiP0C7T5
ProteomicsDBi52365

PTM databases

iPTMnetiP0C7T5
PhosphoSitePlusiP0C7T5

Expressioni

Tissue specificityi

Expressed in cerebellum and cerebral cortex.1 Publication

Gene expression databases

BgeeiENSG00000224470 Expressed in 207 organ(s), highest expression level in epithelium of mammary gland
CleanExiHS_ATXN1L
GenevisibleiP0C7T5 HS

Organism-specific databases

HPAiHPA062596
HPA062789

Interactioni

Subunit structurei

Homodimer. Interacts with CIC (By similarity). Interacts (via AXH domain) with NCOR2. Interacts with ATXN1 (PubMed:16121196). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1 for RBPJ-binding (PubMed:21475249). Found in a complex with CIC and ATXN1 (By similarity).By similarity2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi131172, 68 interactors
IntActiP0C7T5, 33 interactors
MINTiP0C7T5
STRINGi9606.ENSP00000415822

Structurei

3D structure databases

ProteinModelPortaliP0C7T5
SMRiP0C7T5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini457 – 588AXHPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni20 – 197Interaction with NCOR2 and ATXN11 PublicationAdd BLAST178
Regioni20 – 197Self-associationAdd BLAST178

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi88 – 256Pro-richAdd BLAST169

Sequence similaritiesi

Belongs to the ATXN1 family.Curated

Phylogenomic databases

eggNOGiKOG4053 Eukaryota
ENOG410XSNX LUCA
GeneTreeiENSGT00390000005939
HOGENOMiHOG000034225
HOVERGENiHBG100955
InParanoidiP0C7T5
OMAiNGGQRPR
OrthoDBiEOG091G02KL
PhylomeDBiP0C7T5
TreeFamiTF350643

Family and domain databases

InterProiView protein in InterPro
IPR003652 Ataxin_AXH_dom
IPR036096 Ataxin_AXH_dom_sf
PfamiView protein in Pfam
PF08517 AXH, 1 hit
SMARTiView protein in SMART
SM00536 AXH, 1 hit
SUPFAMiSSF102031 SSF102031, 1 hit
PROSITEiView protein in PROSITE
PS51148 AXH, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_044496313S → P. Corresponds to variant dbSNP:rs7194407Ensembl.1

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131172, 68 interactors
IntActiP0C7T5, 33 interactors
MINTiP0C7T5
STRINGi9606.ENSP00000415822

PTM databases

iPTMnetiP0C7T5
PhosphoSitePlusiP0C7T5

Polymorphism and mutation databases

DMDMi206557834

Proteomic databases

EPDiP0C7T5
MaxQBiP0C7T5
PaxDbiP0C7T5
PeptideAtlasiP0C7T5
PRIDEiP0C7T5
ProteomicsDBi52365

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi342371
DisGeNETi342371
EuPathDBiHostDB:ENSG00000224470.7
GeneCardsiATXN1L
H-InvDBiHIX0013220
HGNCiHGNC:33279 ATXN1L
HPAiHPA062596
HPA062789
MIMi614301 gene
neXtProtiNX_P0C7T5
OpenTargetsiENSG00000224470
PharmGKBiPA162377321
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4053 Eukaryota
ENOG410XSNX LUCA
GeneTreeiENSGT00390000005939
HOGENOMiHOG000034225
HOVERGENiHBG100955
InParanoidiP0C7T5
OMAiNGGQRPR
OrthoDBiEOG091G02KL
PhylomeDBiP0C7T5
TreeFamiTF350643

Miscellaneous databases

ChiTaRSiATXN1L human
GenomeRNAii342371
PROiPR:P0C7T5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000224470 Expressed in 207 organ(s), highest expression level in epithelium of mammary gland
CleanExiHS_ATXN1L
GenevisibleiP0C7T5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003652 Ataxin_AXH_dom
IPR036096 Ataxin_AXH_dom_sf
PfamiView protein in Pfam
PF08517 AXH, 1 hit
SMARTiView protein in SMART
SM00536 AXH, 1 hit
SUPFAMiSSF102031 SSF102031, 1 hit
PROSITEiView protein in PROSITE
PS51148 AXH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATX1L_HUMAN
AccessioniPrimary (citable) accession number: P0C7T5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: November 7, 2018
This is version 88 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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