ATXN1L

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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

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
social behavior Source: UniProtKB

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding, Repressor
Biological process	Transcription, 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 16

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000224470.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:33279 ATXN1L
MIMⁱ	614301 gene
neXtProtⁱ	NX_P0C7T5

Keywords - Cellular componentⁱ

Cell projection, Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	342371
Open Targets More...OpenTargetsⁱ	ENSG00000224470
PharmGKBⁱ	PA162377321

Polymorphism and mutation databases

DMDMⁱ	206557834

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	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

Phosphoprotein

Proteomic databases

EPDⁱ	P0C7T5
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P0C7T5
PaxDbⁱ	P0C7T5
PeptideAtlas More...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 207 organ(s), highest expression level in epithelium of mammary gland
CleanExⁱ	HS_ATXN1L
Genevisibleⁱ	P0C7T5 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA062596 HPA062789

HPAⁱ

HPA062596
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

With	Entry	#Exp.	IntAct
FOXH1	O75593	4	EBI-8624731,EBI-1759806
RBFOX1	Q9NWB1-5	4	EBI-8624731,EBI-12123390
RBPJ	Q06330	7	EBI-8624731,EBI-632552

Protein-protein interaction databases

BioGridⁱ	131172, 68 interactors
IntActⁱ	P0C7T5, 33 interactors
Molecular INTeraction database More...MINTⁱ	P0C7T5
STRINGⁱ	9606.ENSP00000415822

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P0C7T5
SMRⁱ	P0C7T5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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 ENOG410XSNX LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000005939
HOGENOMⁱ	HOG000034225
HOVERGENⁱ	HBG100955
InParanoidⁱ	P0C7T5
OMAⁱ	NGGQRPR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G02KL
PhylomeDBⁱ	P0C7T5
TreeFamⁱ	TF350643

Family and domain databases

InterProⁱ	View protein in InterPro IPR003652 Ataxin_AXH_dom IPR036096 Ataxin_AXH_dom_sf
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

P0C7T5-1 [UniParc]FASTA Add 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 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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45523.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001131147.1, NM_001137675.3
UniGeneⁱ	Hs.743239

Genome annotation databases

Ensemblⁱ	ENST00000427980; ENSP00000415822; ENSG00000224470
GeneIDⁱ	342371
KEGGⁱ	hsa:342371
UCSC genome browser More...UCSCⁱ	uc002fbd.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P0C7T5	Ataxin-1-like		MOUSE		687	UniRef90_P0C7T6
Ataxin-1-like		CALJA		689
ATXN1L isoform 2		PANTR		689
Ataxin-1-like		MACMU		689
ATXN1L isoform 2		PONAB		689
+98

Protein	Similar proteins		Species	Score	Length	Source
P0C7T5	Ataxin-1-like		MOUSE		687	UniRef50_P0C7T6
Uncharacterized protein		CERAT		689
ATXN1L isoform 2		PONAB		689
Uncharacterized protein		COLAP		689
Ataxin-1-like		CALJA		689
+208

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
UniGeneⁱ	Hs.743239

3D structure databases

ProteinModelPortalⁱ	P0C7T5
SMRⁱ	P0C7T5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	131172, 68 interactors
IntActⁱ	P0C7T5, 33 interactors
MINTⁱ	P0C7T5
STRINGⁱ	9606.ENSP00000415822

PTM databases

iPTMnetⁱ	P0C7T5
PhosphoSitePlusⁱ	P0C7T5

Polymorphism and mutation databases

DMDMⁱ	206557834

DMDMⁱ

206557834

Proteomic databases

EPDⁱ	P0C7T5
MaxQBⁱ	P0C7T5
PaxDbⁱ	P0C7T5
PeptideAtlasⁱ	P0C7T5
PRIDEⁱ	P0C7T5
ProteomicsDBⁱ	52365

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

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
H-InvDBⁱ	HIX0013220
HGNCⁱ	HGNC:33279 ATXN1L
HPAⁱ	HPA062596 HPA062789
MIMⁱ	614301 gene
neXtProtⁱ	NX_P0C7T5
OpenTargetsⁱ	ENSG00000224470
PharmGKBⁱ	PA162377321
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4053 Eukaryota ENOG410XSNX LUCA
GeneTreeⁱ	ENSGT00390000005939
HOGENOMⁱ	HOG000034225
HOVERGENⁱ	HBG100955
InParanoidⁱ	P0C7T5
OMAⁱ	NGGQRPR
OrthoDBⁱ	EOG091G02KL
PhylomeDBⁱ	P0C7T5
TreeFamⁱ	TF350643

Miscellaneous databases

ChiTaRSⁱ	ATXN1L human
GenomeRNAiⁱ	342371
Protein Ontology More...PROⁱ	PR:P0C7T5
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000224470 Expressed in 207 organ(s), highest expression level in epithelium of mammary gland
CleanExⁱ	HS_ATXN1L
Genevisibleⁱ	P0C7T5 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR003652 Ataxin_AXH_dom IPR036096 Ataxin_AXH_dom_sf
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...

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:	November 7, 2018
	This is version 88 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

Complete proteome, Reference proteome

Documents

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
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

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UniRef

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Supporting data

UniProtKB - P0C7T5 (ATX1L_HUMAN)

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Ataxin-1-like

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ