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Protein

Ataxin-1-like

Gene

Atxn1l

Organism
Mus musculus (Mouse)
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 (By similarity). Can suppress the cytotoxicity of ATXN1 in spinocerebellar ataxia type 1 (SCA1) (PubMed:16121196). In concert with CIC and ATXN1, involved in brain development (PubMed:28288114).By similarity2 Publications

Miscellaneous

Its overexpression suppresses the ataxia caused by polyglutamine-expanded Atxn1. Competes with mutant Atxn1 and wild-type Atxn1 for association with CIC. Decreased association of mutant Atxn1 into its CIC-containing complexes decreases the levels of mutant Atxn1-containing CIC complexes, suppressing pathology, while promoting aggregation and thus increasing nuclear inclusions.

GO - Molecular functioni

GO - Biological processi

  • brain development Source: UniProtKB
  • extracellular matrix organization Source: MGI
  • learning Source: UniProtKB
  • lung alveolus development Source: MGI
  • memory Source: UniProtKB
  • negative regulation of transcription by RNA polymerase II Source: MGI
  • positive regulation of hematopoietic stem cell proliferation Source: MGI
  • social behavior Source: UniProtKB

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
Gene namesi
Name:Atxn1l
Synonyms:Boat
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:3694797 Atxn1l

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

Disruption phenotypei

Mice with conditional knockouts of either ATXN1-ATXN1L or CIC in the developing forebrain exhibit intellectual disability, hyperactivity, social-behavioral deficits and reduced thickness of upper cortical layers.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003437101 – 687Ataxin-1-likeAdd BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei282PhosphoserineCombined sources1
Modified residuei328PhosphothreonineBy similarity1
Modified residuei359PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP0C7T6
PaxDbiP0C7T6
PeptideAtlasiP0C7T6
PRIDEiP0C7T6

PTM databases

iPTMnetiP0C7T6
PhosphoSitePlusiP0C7T6

Expressioni

Tissue specificityi

Expressed in the cortex and hypothalamus (at protein level). Expressed in neuronal cells. Highly expressed in Purkinje cells of cerebellum.2 Publications

Gene expression databases

BgeeiENSMUSG00000069895 Expressed in 240 organ(s), highest expression level in embryo
ExpressionAtlasiP0C7T6 baseline and differential
GenevisibleiP0C7T6 MM

Interactioni

Subunit structurei

Homodimer. Interacts (via AXH domain) with NCOR2 (By similarity). Interacts with ATXN1 and CIC. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1 for RBPJ-binding (By similarity). Found in a complex with CIC and ATXN1 (PubMed:28288114).By similarity1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000090850

Structurei

3D structure databases

ProteinModelPortaliP0C7T6
SMRiP0C7T6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini455 – 586AXHPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni20 – 197Interaction with NCOR2 and ATXN1By similarityAdd BLAST178
Regioni20 – 197Self-associationBy similarityAdd BLAST178

Sequence similaritiesi

Belongs to the ATXN1 family.Curated

Phylogenomic databases

eggNOGiKOG4053 Eukaryota
ENOG410XSNX LUCA
GeneTreeiENSGT00390000005939
HOGENOMiHOG000034225
HOVERGENiHBG100955
InParanoidiP0C7T6
OMAiNGGQRPR
OrthoDBiEOG091G02KL
PhylomeDBiP0C7T6
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P0C7T6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKPVHERSQE CLPPKKRDLP VTSEDMGRTT SCSTNHTPSS DASEWSRGVV
60 70 80 90 100
VAGQSQTGAR VSLGGDGTEA ITGLTVDQYG MLYKVAVPPA TFSPTGLPSV
110 120 130 140 150
VNMSPLPPTF NVASSLIQHP GIHYPPVHYA QLPSTSLQFI GSPYSLPYAV
160 170 180 190 200
PPNFLPSPLL SPSANLATTH LPHFVPYASL LAEEATPPPQ AASPAQSFNK
210 220 230 240 250
SSSATSPPGQ LPHHSNTQPL DLAPGRMPIY YQMSRLPAGY TLHETSTAGA
260 270 280 290 300
SPILTPQEGQ SALEAAAANG QRQRERNVRR ESEALDSASS KGESQGLVPV
310 320 330 340 350
VECMADGQLF SGSQTPRVEV AAPAHRGTPD TDLEVQRVVG ALASQDYRVV
360 370 380 390 400
AAQRKDEPSP LNLSHHNLDH QGEGRGSARN PTELVEKSQA RVFYPQSHQE
410 420 430 440 450
PVKHRPLPKA MVVANGNLVP TGTDPSLLPV GSEILVASSL DLQARATFPD
460 470 480 490 500
KEPTPPPVTS SHLPSHFMKG AIIQLATGEL KRVEDLQTQD FVRSAEVSGG
510 520 530 540 550
LKIDSSTVVD IQESQWPGFV MLHFVVGEQQ SKVSIEVPPE HPFFVYGQGW
560 570 580 590 600
SSCSPGRTAQ LFSLPCHRLQ VGDVCISISL QSLNSNSVSQ ASCAPPGQLG
610 620 630 640 650
TPRERPERTV LGPRDLCDSE GKNQPSGEGS RVGEPSQPEP GAQACWPAPS
660 670 680
FQRFSMQGEE ARAAMLRPSF IPQEVKLSIE GRSNAGK
Length:687
Mass (Da):73,374
Last modified:July 22, 2008 - v1
Checksum:i952C394FFB6B8300
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1D5RLP5A0A1D5RLP5_MOUSE
Ataxin-1-like
Atxn1l
37Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC132138 Genomic DNA No translation available.
CCDSiCCDS40474.1
RefSeqiNP_001074399.1, NM_001080930.1
XP_011246741.1, XM_011248439.2
XP_011246742.1, XM_011248440.2
XP_011246743.1, XM_011248441.2
XP_017168386.1, XM_017312897.1
UniGeneiMm.276770

Genome annotation databases

EnsembliENSMUST00000093162; ENSMUSP00000090850; ENSMUSG00000069895
ENSMUST00000212605; ENSMUSP00000148324; ENSMUSG00000069895
GeneIDi52335
KEGGimmu:52335
UCSCiuc009njh.1 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC132138 Genomic DNA No translation available.
CCDSiCCDS40474.1
RefSeqiNP_001074399.1, NM_001080930.1
XP_011246741.1, XM_011248439.2
XP_011246742.1, XM_011248440.2
XP_011246743.1, XM_011248441.2
XP_017168386.1, XM_017312897.1
UniGeneiMm.276770

3D structure databases

ProteinModelPortaliP0C7T6
SMRiP0C7T6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000090850

PTM databases

iPTMnetiP0C7T6
PhosphoSitePlusiP0C7T6

Proteomic databases

MaxQBiP0C7T6
PaxDbiP0C7T6
PeptideAtlasiP0C7T6
PRIDEiP0C7T6

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000093162; ENSMUSP00000090850; ENSMUSG00000069895
ENSMUST00000212605; ENSMUSP00000148324; ENSMUSG00000069895
GeneIDi52335
KEGGimmu:52335
UCSCiuc009njh.1 mouse

Organism-specific databases

CTDi342371
MGIiMGI:3694797 Atxn1l

Phylogenomic databases

eggNOGiKOG4053 Eukaryota
ENOG410XSNX LUCA
GeneTreeiENSGT00390000005939
HOGENOMiHOG000034225
HOVERGENiHBG100955
InParanoidiP0C7T6
OMAiNGGQRPR
OrthoDBiEOG091G02KL
PhylomeDBiP0C7T6
TreeFamiTF350643

Miscellaneous databases

ChiTaRSiAtxn1l mouse
PROiPR:P0C7T6
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000069895 Expressed in 240 organ(s), highest expression level in embryo
ExpressionAtlasiP0C7T6 baseline and differential
GenevisibleiP0C7T6 MM

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_MOUSE
AccessioniPrimary (citable) accession number: P0C7T6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: November 7, 2018
This is version 71 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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