P0C7T5 (ATX1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ataxin-1-like

Alternative name(s):
Brother of ataxin-1
Short name=Brother of ATXN1

Gene names

Name:	ATXN1L
Synonyms:	BOAT, BOAT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	689 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.3
Subunit structure	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. Ref.2 Ref.3
Subcellular location	Nucleus. Cell projection › dendrite. Note: Forms nuclear foci. Colocalizes with NCOR2 and HDAC3. Distributed beyond the nucleus into the cell body and dendrites in Purkinje cells and in inferior olive cells. Ref.2
Tissue specificity	Expressed in cerebellum and cerebral cortex. Ref.2
Sequence similarities	Belongs to the ATXN1 family. Contains 1 AXH domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cell projection Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	dendrite Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 689	689	Ataxin-1-like		PRO_0000343709
Regions
	Domain	457 – 588	132	AXH
	Region	20 – 197	178	Interaction with NCOR2 and ATXN1
	Region	20 – 197	178	Self-association
	Compositional bias	88 – 256	169	Pro-rich
Natural variations
	Natural variant	313	1	S → P. Corresponds to variant rs7194407 [ dbSNP | Ensembl ].		VAR_044496

Sequences

	Sequence		Length	Mass (Da)
	P0C7T5 [UniParc]. Last modified July 22, 2008. Version 1. Checksum: 9C5D3938EF91F2C7	FASTA	689	73,306
	10 20 30 40 50 60 MKPVHERSQE CLPPKKRDLP VTSEDMGRTT SCSTNHTPSS DASEWSRGVV VAGQSQAGAR 70 80 90 100 110 120 VSLGGDGAEA ITGLTVDQYG MLYKVAVPPA TFSPTGLPSV VNMSPLPPTF NVASSLIQHP 130 140 150 160 170 180 GIHYPPLHYA QLPSTSLQFI GSPYSLPYAV PPNFLPSPLL SPSANLATSH LPHFVPYASL 190 200 210 220 230 240 LAEGATPPPQ APSPAHSFNK APSATSPSGQ LPHHSSTQPL DLAPGRMPIY YQMSRLPAGY 250 260 270 280 290 300 TLHETPPAGA SPVLTPQESQ SALEAAAANG GQRPRERNLV RRESEALDSP NSKGEGQGLV 310 320 330 340 350 360 PVVECVVDGQ LFSGSQTPRV EVAAPAHRGT PDTDLEVQRV VGALASQDYR VVAAQRKEEP 370 380 390 400 410 420 SPLNLSHHTP DHQGEGRGSA RNPAELAEKS QARGFYPQSH QEPVKHRPLP KAMVVANGNL 430 440 450 460 470 480 VPTGTDSGLL PVGSEILVAS SLDVQARATF PDKEPTPPPI TSSHLPSHFM KGAIIQLATG 490 500 510 520 530 540 ELKRVEDLQT QDFVRSAEVS GGLKIDSSTV VDIQESQWPG FVMLHFVVGE QQSKVSIEVP 550 560 570 580 590 600 PEHPFFVYGQ GWSSCSPGRT TQLFSLPCHR LQVGDVCISI SLQSLNSNSV SQASCAPPSQ 610 620 630 640 650 660 LGPPRERPER TVLGSRELCD SEGKSQPAGE GSRVVEPSQP ESGAQACWPA PSFQRYSMQG 670 680 EEARAALLRP SFIPQEVKLS IEGRSNAGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 15616553] [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: 16121196] [Abstract] Cited for: INTERACTION WITH NCOR2 AND ATXN1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]	"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: 21475249] [Abstract] Cited for: FUNCTION, INTERACTION WITH RBPJ.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC010653 Genomic DNA. No translation available. BX537575 mRNA. No translation available.
IPI	IPI00900336.
RefSeq	NP_001131147.1. NM_001137675.2.
UniGene	Hs.597095.
3D structure databases
ProteinModelPortal	P0C7T5.
SMR	P0C7T5. Positions 468-582.
ModBase	Search...
Protein-protein interaction databases
STRING	P0C7T5.
PTM databases
PhosphoSite	P0C7T5.
Polymorphism databases
DMDM	206557834.
Proteomic databases
PRIDE	P0C7T5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000427980; ENSP00000415822; ENSG00000224470.
GeneID	342371.
KEGG	hsa:342371.
Organism-specific databases
CTD	342371.
GeneCards	GC16P071879.
HGNC	HGNC:33279. ATXN1L.
MIM	614301. gene.
neXtProt	NX_P0C7T5.
PharmGKB	PA162377321.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000005939.
HOGENOM	HBG505759.
HOVERGEN	HBG100955.
OMA	DVCISIS.
OrthoDB	EOG43TZTZ.
Gene expression databases
ArrayExpress	P0C7T5.
Bgee	P0C7T5.
CleanEx	HS_ATXN1L.
Genevestigator	P0C7T5.
Family and domain databases
InterPro	IPR013723. Ataxin-1_HBP1. [Graphical view]
Pfam	PF08517. AXH. 1 hit. [Graphical view]
SUPFAM	SSF102031. Ataxin-1_HBP1. 1 hit.
PROSITE	PS51148. AXH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

ATX1L_HUMAN

Accession

Primary (citable) accession number: P0C7T5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 22, 2008
Last sequence update:	July 22, 2008
Last modified:	January 25, 2012
This is version 31 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.