UniProtKB - P0C7T5 (ATX1L_HUMAN)
Protein
Ataxin-1-like
Gene
ATXN1L
Organism
Homo sapiens (Human)
Status
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
- DNA binding Source: UniProtKB-KW
- RNA binding Source: InterPro
GO - Biological processi
- anatomical structure development Source: GO_Central
- brain development Source: Ensembl
- extracellular matrix organization Source: Ensembl
- learning Source: UniProtKB
- lung alveolus development Source: Ensembl
- memory Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- positive regulation of hematopoietic stem cell proliferation Source: Ensembl
- regulation of transcription, DNA-templated Source: GO_Central
- social behavior Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P0C7T5 |
Names & Taxonomyi
Protein namesi | Recommended name: Ataxin-1-likeAlternative name(s): Brother of ataxin-1 Short name: Brother of ATXN1 |
Gene namesi | Name:ATXN1L Synonyms:BOAT, BOAT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000224470.7 |
HGNCi | HGNC:33279, ATXN1L |
MIMi | 614301, gene |
neXtProti | NX_P0C7T5 |
Subcellular locationi
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- dendrite Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell projection, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 342371 |
OpenTargetsi | ENSG00000224470 |
PharmGKBi | PA162377321 |
Miscellaneous databases
Pharosi | P0C7T5, Tdark |
Polymorphism and mutation databases
BioMutai | ATXN1L |
DMDMi | 206557834 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000343709 | 1 – 689 | Ataxin-1-likeAdd BLAST | 689 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 284 | PhosphoserineCombined sources | 1 | |
Modified residuei | 330 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 361 | PhosphoserineCombined sources | 1 | |
Modified residuei | 615 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P0C7T5 |
jPOSTi | P0C7T5 |
MassIVEi | P0C7T5 |
MaxQBi | P0C7T5 |
PaxDbi | P0C7T5 |
PeptideAtlasi | P0C7T5 |
PRIDEi | P0C7T5 |
ProteomicsDBi | 52365 |
PTM databases
iPTMneti | P0C7T5 |
PhosphoSitePlusi | P0C7T5 |
Expressioni
Tissue specificityi
Expressed in cerebellum and cerebral cortex.1 Publication
Gene expression databases
Bgeei | ENSG00000224470, Expressed in epithelium of mammary gland and 222 other tissues |
Genevisiblei | P0C7T5, HS |
Organism-specific databases
HPAi | ENSG00000224470, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsP0C7T5
Protein-protein interaction databases
BioGRIDi | 131172, 95 interactors |
IntActi | P0C7T5, 32 interactors |
MINTi | P0C7T5 |
STRINGi | 9606.ENSP00000415822 |
Miscellaneous databases
RNActi | P0C7T5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 457 – 588 | AXHPROSITE-ProRule annotationAdd BLAST | 132 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 20 – 197 | Interaction with NCOR2 and ATXN11 PublicationAdd BLAST | 178 | |
Regioni | 20 – 197 | Self-associationAdd BLAST | 178 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 88 – 256 | Pro-richAdd BLAST | 169 |
Sequence similaritiesi
Belongs to the ATXN1 family.Curated
Phylogenomic databases
eggNOGi | KOG4053, Eukaryota |
GeneTreei | ENSGT00390000005939 |
HOGENOMi | CLU_434497_0_0_1 |
InParanoidi | P0C7T5 |
OMAi | PREQCDS |
OrthoDBi | 249631at2759 |
PhylomeDBi | P0C7T5 |
TreeFami | TF350643 |
Family and domain databases
InterProi | View protein in InterPro IPR043404, ATAXIN1-like IPR003652, Ataxin_AXH_dom IPR036096, Ataxin_AXH_dom_sf |
PANTHERi | PTHR13392, PTHR13392, 1 hit |
Pfami | View protein in Pfam PF08517, AXH, 1 hit |
SMARTi | View protein in SMART SM00536, AXH, 1 hit |
SUPFAMi | SSF102031, SSF102031, 1 hit |
PROSITEi | View protein in PROSITE PS51148, AXH, 1 hit |
i Sequence
Sequence statusi: Complete.
P0C7T5-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044496 | 313 | S → 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. |
CCDSi | CCDS45523.1 |
RefSeqi | NP_001131147.1, NM_001137675.3 |
Genome annotation databases
Ensembli | ENST00000427980; ENSP00000415822; ENSG00000224470 |
GeneIDi | 342371 |
KEGGi | hsa:342371 |
UCSCi | uc002fbd.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar 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. |
CCDSi | CCDS45523.1 |
RefSeqi | NP_001131147.1, NM_001137675.3 |
3D structure databases
SMRi | P0C7T5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 131172, 95 interactors |
IntActi | P0C7T5, 32 interactors |
MINTi | P0C7T5 |
STRINGi | 9606.ENSP00000415822 |
PTM databases
iPTMneti | P0C7T5 |
PhosphoSitePlusi | P0C7T5 |
Polymorphism and mutation databases
BioMutai | ATXN1L |
DMDMi | 206557834 |
Proteomic databases
EPDi | P0C7T5 |
jPOSTi | P0C7T5 |
MassIVEi | P0C7T5 |
MaxQBi | P0C7T5 |
PaxDbi | P0C7T5 |
PeptideAtlasi | P0C7T5 |
PRIDEi | P0C7T5 |
ProteomicsDBi | 52365 |
Protocols and materials databases
Antibodypediai | 67440, 82 antibodies |
Genome annotation databases
Ensembli | ENST00000427980; ENSP00000415822; ENSG00000224470 |
GeneIDi | 342371 |
KEGGi | hsa:342371 |
UCSCi | uc002fbd.3, human |
Organism-specific databases
CTDi | 342371 |
DisGeNETi | 342371 |
EuPathDBi | HostDB:ENSG00000224470.7 |
GeneCardsi | ATXN1L |
HGNCi | HGNC:33279, ATXN1L |
HPAi | ENSG00000224470, Low tissue specificity |
MIMi | 614301, gene |
neXtProti | NX_P0C7T5 |
OpenTargetsi | ENSG00000224470 |
PharmGKBi | PA162377321 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4053, Eukaryota |
GeneTreei | ENSGT00390000005939 |
HOGENOMi | CLU_434497_0_0_1 |
InParanoidi | P0C7T5 |
OMAi | PREQCDS |
OrthoDBi | 249631at2759 |
PhylomeDBi | P0C7T5 |
TreeFami | TF350643 |
Enzyme and pathway databases
PathwayCommonsi | P0C7T5 |
Miscellaneous databases
BioGRID-ORCSi | 342371, 10 hits in 848 CRISPR screens |
ChiTaRSi | ATXN1L, human |
GenomeRNAii | 342371 |
Pharosi | P0C7T5, Tdark |
PROi | PR:P0C7T5 |
RNActi | P0C7T5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000224470, Expressed in epithelium of mammary gland and 222 other tissues |
Genevisiblei | P0C7T5, HS |
Family and domain databases
InterProi | View protein in InterPro IPR043404, ATAXIN1-like IPR003652, Ataxin_AXH_dom IPR036096, Ataxin_AXH_dom_sf |
PANTHERi | PTHR13392, PTHR13392, 1 hit |
Pfami | View protein in Pfam PF08517, AXH, 1 hit |
SMARTi | View protein in SMART SM00536, AXH, 1 hit |
SUPFAMi | SSF102031, SSF102031, 1 hit |
PROSITEi | View protein in PROSITE PS51148, AXH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATX1L_HUMAN | |
Accessioni | P0C7T5Primary (citable) accession number: P0C7T5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 22, 2008 |
Last sequence update: | July 22, 2008 | |
Last modified: | December 2, 2020 | |
This is version 104 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations