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Entry version 158 (08 May 2019)
Sequence version 2 (13 Sep 2004)
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Protein

Ataxin-2-like protein

Gene

ATXN2L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Involved in the regulation of stress granule and P-body formation.1 Publication

<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

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8WWM7

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8WWM7

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ataxin-2-like protein
Alternative name(s):
Ataxin-2 domain protein
Ataxin-2-related protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATXN2L
Synonyms:A2D, A2LG, A2LP, A2RP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:31326 ATXN2L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607931 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WWM7

<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

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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi361R → Q: No effect on localization to stress granules under stress conditions. 1 Publication1
Mutagenesisi370R → Q: No effect on localization to stress granules under stress conditions. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
11273

Open Targets

More...
OpenTargetsi
ENSG00000168488

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394585

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATXN2L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
52000729

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000647541 – 1075Ataxin-2-like proteinAdd BLAST1075

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei103PhosphoserineCombined sources1
Modified residuei111PhosphoserineCombined sources1
Modified residuei118PhosphotyrosineCombined sources1
Modified residuei207N6-acetyllysineBy similarity1
Modified residuei238PhosphoserineCombined sources1
Modified residuei264PhosphotyrosineCombined sources1
Modified residuei306PhosphoserineCombined sources1
Modified residuei309PhosphotyrosineCombined sources1
Modified residuei335PhosphoserineCombined sources1
Modified residuei339PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki348Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei349PhosphotyrosineCombined sources1
Modified residuei361Asymmetric dimethylarginine1 Publication1
Modified residuei391PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Modified residuei449PhosphoserineCombined sources1
Modified residuei493PhosphoserineCombined sources1
Modified residuei496PhosphoserineCombined sources1
Modified residuei557PhosphoserineBy similarity1
Modified residuei558PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1
Modified residuei563PhosphoserineCombined sources1
Modified residuei594PhosphoserineCombined sources1
Modified residuei632PhosphothreonineCombined sources1
Modified residuei634PhosphoserineCombined sources1
Modified residuei674PhosphoserineCombined sources1
Modified residuei680PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.1 Publication
Asymmetrically dimethylated. Probably methylated by PRMT1.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8WWM7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8WWM7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8WWM7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8WWM7

PeptideAtlas

More...
PeptideAtlasi
Q8WWM7

PRoteomics IDEntifications database

More...
PRIDEi
Q8WWM7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
74906
74907 [Q8WWM7-2]
74908 [Q8WWM7-3]
74909 [Q8WWM7-4]
74910 [Q8WWM7-5]
74911 [Q8WWM7-6]
74912 [Q8WWM7-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WWM7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8WWM7

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8WWM7

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q8WWM7

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at high levels in thymus, lymph node, spleen, fetal kidney and adult testis. Constitutively associated with MPL and EPOR in hematopoietic cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168488 Expressed in 227 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WWM7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WWM7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041506
HPA043391
HPA071955

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MPL/TPOR and EPOR and dissociates after ligand stimulation (PubMed:11784712). Interacts with DDX6, G3BP1, and ATXN2 (PubMed:23209657). Interacts with PRMT1 (PubMed:25748791). Interacts with CIC and ATXN1 (By similarity).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116429, 92 interactors

Protein interaction database and analysis system

More...
IntActi
Q8WWM7, 45 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378917

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni98 – 121Interaction with MPL1 PublicationAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 84Pro-richAdd BLAST81

<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

Belongs to the ataxin-2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2375 Eukaryota
COG5180 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157795

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234354

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WWM7

Identification of Orthologs from Complete Genome Data

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OMAi
APPIMQA

Database of Orthologous Groups

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OrthoDBi
282700at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WWM7

TreeFam database of animal gene trees

More...
TreeFami
TF326591

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009818 Ataxin-2_C
IPR009604 LsmAD_domain
IPR025852 SM_dom_ATX

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06741 LsmAD, 1 hit
PF07145 PAM2, 1 hit
PF14438 SM-ATX, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01272 LsmAD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (9+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 9 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WWM7-1) [UniParc]FASTAAdd to basket
Also known as: A2D-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLKPQPLQQP SQPQQPPPTQ QAVARRPPGG TSPPNGGLPG PLATSAAPPG
60 70 80 90 100
PPAAASPCLG PVAAAGSGLR RGAEGILAPQ PPPPQQHQER PGAAAIGSAR
110 120 130 140 150
GQSTGKGPPQ SPVFEGVYNN SRMLHFLTAV VGSTCDVKVK NGTTYEGIFK
160 170 180 190 200
TLSSKFELAV DAVHRKASEP AGGPRREDIV DTMVFKPSDV MLVHFRNVDF
210 220 230 240 250
NYATKDKFTD SAIAMNSKVN GEHKEKVLQR WEGGDSNSDD YDLESDMSNG
260 270 280 290 300
WDPNEMFKFN EENYGVKTTY DSSLSSYTVP LEKDNSEEFR QRELRAAQLA
310 320 330 340 350
REIESSPQYR LRIAMENDDG RTEEEKHSAV QRQGSGRESP SLASREGKYI
360 370 380 390 400
PLPQRVREGP RGGVRCSSSR GGRPGLSSLP PRGPHHLDNS SPGPGSEARG
410 420 430 440 450
INGGPSRMSP KAQRPLRGAK TLSSPSNRPS GETSVPPPPA VGRMYPPRSP
460 470 480 490 500
KSAAPAPISA SCPEPPIGSA VPTSSASIPV TSSVSDPGVG SISPASPKIS
510 520 530 540 550
LAPTDVKELS TKEPGRTLEP QELARIAGKV PGLQNEQKRF QLEELRKFGA
560 570 580 590 600
QFKLQPSSSP ENSLDPFPPR ILKEEPKGKE KEVDGLLTSE PMGSPVSSKT
610 620 630 640 650
ESVSDKEDKP PLAPSGGTEG PEQPPPPCPS QTGSPPVGLI KGEDKDEGPV
660 670 680 690 700
AEQVKKSTLN PNAKEFNPTK PLLSVNKSTS TPTSPGPRTH STPSIPVLTA
710 720 730 740 750
GQSGLYSPQY ISYIPQIHMG PAVQAPQMYP YPVSNSVPGQ QGKYRGAKGS
760 770 780 790 800
LPPQRSDQHQ PASAPPMMQA AAAAGPPLVA ATPYSSYIPY NPQQFPGQPA
810 820 830 840 850
MMQPMAHYPS QPVFAPMLQS NPRMLTSGSH PQAIVSSSTP QYPSAEQPTP
860 870 880 890 900
QALYATVHQS YPHHATQLHA HQPQPATTPT GSQPQSQHAA PSPVQHQAGQ
910 920 930 940 950
APHLGSGQPQ QNLYHPGALT GTPPSLPPGP SAQSPQSSFP QPAAVYAIHH
960 970 980 990 1000
QQLPHGFTNM AHVTQAHVQT GITAAPPPHP GAPHPPQVML LHPPQSHGGP
1010 1020 1030 1040 1050
PQGAVPQSGV PALSASTPSP YPYIGHPQGE QPGQAPGFPG GADDRIREFS
1060 1070
LAGGIWHGRA EGLQVGQDAR VLGGE
Length:1,075
Mass (Da):113,374
Last modified:September 13, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i805E8B02E853C20E
GO
Isoform 2 (identifier: Q8WWM7-2) [UniParc]FASTAAdd to basket
Also known as: A2D-B

The sequence of this isoform differs from the canonical sequence as follows:
     1047-1075: REFSLAGGIWHGRAEGLQVGQDARVLGGE → PPLPPPGELKIVLAAT

Show »
Length:1,062
Mass (Da):111,920
Checksum:iB054BFABDF7C093D
GO
Isoform 3 (identifier: Q8WWM7-3) [UniParc]FASTAAdd to basket
Also known as: A2D-C

The sequence of this isoform differs from the canonical sequence as follows:
     1047-1075: REFSLAGGIWHGRAEGLQVGQDARVLGGE → LCRVGRSHSR...ALSDPDCLLT

Show »
Length:1,097
Mass (Da):115,582
Checksum:i34435B16C34845BD
GO
Isoform 4 (identifier: Q8WWM7-4) [UniParc]FASTAAdd to basket
Also known as: A2D-D

The sequence of this isoform differs from the canonical sequence as follows:
     1029-1075: GEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE → VQSHPSQQLPFHPPGN

Show »
Length:1,044
Mass (Da):110,326
Checksum:iFD514C5B1780634A
GO
Isoform 5 (identifier: Q8WWM7-5) [UniParc]FASTAAdd to basket
Also known as: A2D-E

The sequence of this isoform differs from the canonical sequence as follows:
     1029-1075: GEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE → APFPPPGELKIVLAAT

Show »
Length:1,044
Mass (Da):110,177
Checksum:i2EB33B345AC1E74D
GO
Isoform 6 (identifier: Q8WWM7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     896-967: HQAGQAPHLG...TNMAHVTQAH → VPAMGGAEWS...HSRICTTQGP
     968-1075: Missing.

Note: Due to intron retention. No experimental confirmation available.
Show »
Length:968
Mass (Da):102,895
Checksum:iBB93E110396C536A
GO
Isoform 7 (identifier: Q8WWM7-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     354-400: QRVREGPRGG...SPGPGSEARG → HRGQGQGPAG...DGRSFIFYYL
     401-1075: Missing.

Note: No experimental confirmation available.
Show »
Length:399
Mass (Da):42,995
Checksum:i1D94FCE52DE4B460
GO
Isoform 8 (identifier: Q8WWM7-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1029-1075: GEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE → APLPPPGELKIVLAAT

Show »
Length:1,044
Mass (Da):110,143
Checksum:i2EB33B345AC9454D
GO
Isoform 9 (identifier: Q8WWM7-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1047-1075: REFSLAGGIWHGRAEGLQVGQDARVLGGE → LQSHPSQQLPFHPPGN

Show »
Length:1,062
Mass (Da):112,091
Checksum:iE5A6C8C492352F33
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUF6H3BUF6_HUMAN
Ataxin-2-like protein
ATXN2L
1,068Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGL7A0A0C4DGL7_HUMAN
Ataxin-2-like protein
ATXN2L
401Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BSK9H3BSK9_HUMAN
Ataxin-2-like protein
ATXN2L
336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BUE3H3BUE3_HUMAN
Ataxin-2-like protein
ATXN2L
217Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRB0H3BRB0_HUMAN
Ataxin-2-like protein
ATXN2L
400Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BMX1H3BMX1_HUMAN
Ataxin-2-like protein
ATXN2L
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPQ7H3BPQ7_HUMAN
Ataxin-2-like protein
ATXN2L
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQX7H3BQX7_HUMAN
Ataxin-2-like protein
ATXN2L
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BSQ5H3BSQ5_HUMAN
Ataxin-2-like protein
ATXN2L
91Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQ14H3BQ14_HUMAN
Ataxin-2-like protein
ATXN2L
11Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC69607 differs from that shown. Reason: Frameshift at positions 31, 429, 432 and 446.Curated
The sequence AAO12056 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAO12057 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAO12058 differs from that shown. Exon duplication.Curated
The sequence AAO12058 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAO12059 differs from that shown. Exon duplication.Curated
The sequence AAO12059 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAO12060 differs from that shown. Exon duplication.Curated
The sequence AAO12060 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti337R → RG in AAB19201 (PubMed:8896555).Curated1
Sequence conflicti689T → S in CAC38068 (PubMed:11784712).Curated1
Sequence conflicti689T → S in CAC38069 (PubMed:11784712).Curated1
Sequence conflicti689T → S in CAC38070 (PubMed:11784712).Curated1
Sequence conflicti689T → S in CAC38071 (PubMed:11784712).Curated1
Sequence conflicti689T → S in CAC38072 (PubMed:11784712).Curated1
Sequence conflicti726P → T in CAC38068 (PubMed:11784712).Curated1
Sequence conflicti726P → T in CAC38069 (PubMed:11784712).Curated1
Sequence conflicti726P → T in CAC38070 (PubMed:11784712).Curated1
Sequence conflicti726P → T in CAC38071 (PubMed:11784712).Curated1
Sequence conflicti726P → T in CAC38072 (PubMed:11784712).Curated1
Sequence conflicti895Q → QQ in AAH10239 (PubMed:15489334).Curated1
Isoform 2 (identifier: Q8WWM7-2)
Sequence conflicti1049L → F in CAC38069 (PubMed:11784712).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_011587354 – 400QRVRE…SEARG → HRGQGQGPAGVGGSCSAPAR PHPVLPSHPLIYSPAGDGRS FIFYYL in isoform 7. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_011588401 – 1075Missing in isoform 7. 1 PublicationAdd BLAST675
Alternative sequenceiVSP_011589896 – 967HQAGQ…VTQAH → VPAMGGAEWSWCRNGWPEEG IELGVISEWRGLGASELLAC VALNLPLPSSIRRGRPHTWA VDSHSRICTTQGP in isoform 6. 1 PublicationAdd BLAST72
Alternative sequenceiVSP_011590968 – 1075Missing in isoform 6. 1 PublicationAdd BLAST108
Alternative sequenceiVSP_0115911029 – 1075GEQPG…VLGGE → VQSHPSQQLPFHPPGN in isoform 4. 2 PublicationsAdd BLAST47
Alternative sequenceiVSP_0115921029 – 1075GEQPG…VLGGE → APFPPPGELKIVLAAT in isoform 5. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_0442431029 – 1075GEQPG…VLGGE → APLPPPGELKIVLAAT in isoform 8. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_0115931047 – 1075REFSL…VLGGE → PPLPPPGELKIVLAAT in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0115941047 – 1075REFSL…VLGGE → LCRVGRSHSRRRQGLAPGSV LCFPPSSLSCDPAAPLPTAS PALSDPDCLLT in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0471221047 – 1075REFSL…VLGGE → LQSHPSQQLPFHPPGN in isoform 9. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ317970 mRNA Translation: CAC38068.1
AJ317971 mRNA Translation: CAC38069.3
AJ317972 mRNA Translation: CAC38070.3
AJ317973 mRNA Translation: CAC38071.3
AJ317974 mRNA Translation: CAC38072.3
AY188334 mRNA Translation: AAO12056.1 Frameshift.
AY188335 mRNA Translation: AAO12057.1 Frameshift.
AY188336 mRNA Translation: AAO12058.1 Sequence problems.
AY188337 mRNA Translation: AAO12059.1 Sequence problems.
AY188338 mRNA Translation: AAO12060.1 Sequence problems.
AF034373 mRNA Translation: AAC69607.1 Frameshift.
AK289981 mRNA Translation: BAF82670.1
AC116346 Genomic DNA No translation available.
AC133550 Genomic DNA No translation available.
AC145285 Genomic DNA No translation available.
BC010239 mRNA Translation: AAH10239.1
BC068012 mRNA Translation: AAH68012.1 Sequence problems.
BC082760 mRNA Translation: AAH82760.1
BC136584 mRNA Translation: AAI36585.1
U70671 mRNA Translation: AAB19201.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10639.1 [Q8WWM7-4]
CCDS10640.1 [Q8WWM7-3]
CCDS10641.1 [Q8WWM7-1]
CCDS32423.1 [Q8WWM7-2]
CCDS45451.1 [Q8WWM7-8]
CCDS58443.1 [Q8WWM7-9]

NCBI Reference Sequences

More...
RefSeqi
NP_009176.2, NM_007245.3 [Q8WWM7-1]
NP_059867.3, NM_017492.3 [Q8WWM7-9]
NP_663760.1, NM_145714.2 [Q8WWM7-2]
NP_680780.1, NM_148414.2 [Q8WWM7-3]
NP_680781.1, NM_148415.2 [Q8WWM7-4]
NP_680782.1, NM_148416.2 [Q8WWM7-8]
XP_005255123.1, XM_005255066.1 [Q8WWM7-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000325215; ENSP00000315650; ENSG00000168488 [Q8WWM7-2]
ENST00000336783; ENSP00000338718; ENSG00000168488 [Q8WWM7-1]
ENST00000340394; ENSP00000341459; ENSG00000168488 [Q8WWM7-4]
ENST00000382686; ENSP00000372133; ENSG00000168488 [Q8WWM7-8]
ENST00000395547; ENSP00000378917; ENSG00000168488 [Q8WWM7-3]
ENST00000570200; ENSP00000454516; ENSG00000168488 [Q8WWM7-9]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11273

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11273

UCSC genome browser

More...
UCSCi
uc002dqy.5 human [Q8WWM7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ317970 mRNA Translation: CAC38068.1
AJ317971 mRNA Translation: CAC38069.3
AJ317972 mRNA Translation: CAC38070.3
AJ317973 mRNA Translation: CAC38071.3
AJ317974 mRNA Translation: CAC38072.3
AY188334 mRNA Translation: AAO12056.1 Frameshift.
AY188335 mRNA Translation: AAO12057.1 Frameshift.
AY188336 mRNA Translation: AAO12058.1 Sequence problems.
AY188337 mRNA Translation: AAO12059.1 Sequence problems.
AY188338 mRNA Translation: AAO12060.1 Sequence problems.
AF034373 mRNA Translation: AAC69607.1 Frameshift.
AK289981 mRNA Translation: BAF82670.1
AC116346 Genomic DNA No translation available.
AC133550 Genomic DNA No translation available.
AC145285 Genomic DNA No translation available.
BC010239 mRNA Translation: AAH10239.1
BC068012 mRNA Translation: AAH68012.1 Sequence problems.
BC082760 mRNA Translation: AAH82760.1
BC136584 mRNA Translation: AAI36585.1
U70671 mRNA Translation: AAB19201.1
CCDSiCCDS10639.1 [Q8WWM7-4]
CCDS10640.1 [Q8WWM7-3]
CCDS10641.1 [Q8WWM7-1]
CCDS32423.1 [Q8WWM7-2]
CCDS45451.1 [Q8WWM7-8]
CCDS58443.1 [Q8WWM7-9]
RefSeqiNP_009176.2, NM_007245.3 [Q8WWM7-1]
NP_059867.3, NM_017492.3 [Q8WWM7-9]
NP_663760.1, NM_145714.2 [Q8WWM7-2]
NP_680780.1, NM_148414.2 [Q8WWM7-3]
NP_680781.1, NM_148415.2 [Q8WWM7-4]
NP_680782.1, NM_148416.2 [Q8WWM7-8]
XP_005255123.1, XM_005255066.1 [Q8WWM7-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116429, 92 interactors
IntActiQ8WWM7, 45 interactors
STRINGi9606.ENSP00000378917

PTM databases

iPTMnetiQ8WWM7
PhosphoSitePlusiQ8WWM7
SwissPalmiQ8WWM7

Polymorphism and mutation databases

BioMutaiATXN2L
DMDMi52000729

Proteomic databases

EPDiQ8WWM7
jPOSTiQ8WWM7
MaxQBiQ8WWM7
PaxDbiQ8WWM7
PeptideAtlasiQ8WWM7
PRIDEiQ8WWM7
ProteomicsDBi74906
74907 [Q8WWM7-2]
74908 [Q8WWM7-3]
74909 [Q8WWM7-4]
74910 [Q8WWM7-5]
74911 [Q8WWM7-6]
74912 [Q8WWM7-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325215; ENSP00000315650; ENSG00000168488 [Q8WWM7-2]
ENST00000336783; ENSP00000338718; ENSG00000168488 [Q8WWM7-1]
ENST00000340394; ENSP00000341459; ENSG00000168488 [Q8WWM7-4]
ENST00000382686; ENSP00000372133; ENSG00000168488 [Q8WWM7-8]
ENST00000395547; ENSP00000378917; ENSG00000168488 [Q8WWM7-3]
ENST00000570200; ENSP00000454516; ENSG00000168488 [Q8WWM7-9]
GeneIDi11273
KEGGihsa:11273
UCSCiuc002dqy.5 human [Q8WWM7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11273
DisGeNETi11273

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATXN2L
HGNCiHGNC:31326 ATXN2L
HPAiHPA041506
HPA043391
HPA071955
MIMi607931 gene
neXtProtiNX_Q8WWM7
OpenTargetsiENSG00000168488
PharmGKBiPA128394585

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2375 Eukaryota
COG5180 LUCA
GeneTreeiENSGT00940000157795
HOGENOMiHOG000234354
InParanoidiQ8WWM7
OMAiAPPIMQA
OrthoDBi282700at2759
PhylomeDBiQ8WWM7
TreeFamiTF326591

Enzyme and pathway databases

SignaLinkiQ8WWM7
SIGNORiQ8WWM7

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ATXN2L

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
11273
PMAP-CutDBiQ8WWM7

Protein Ontology

More...
PROi
PR:Q8WWM7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168488 Expressed in 227 organ(s), highest expression level in testis
ExpressionAtlasiQ8WWM7 baseline and differential
GenevisibleiQ8WWM7 HS

Family and domain databases

InterProiView protein in InterPro
IPR009818 Ataxin-2_C
IPR009604 LsmAD_domain
IPR025852 SM_dom_ATX
PfamiView protein in Pfam
PF06741 LsmAD, 1 hit
PF07145 PAM2, 1 hit
PF14438 SM-ATX, 1 hit
SMARTiView protein in SMART
SM01272 LsmAD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATX2L_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WWM7
Secondary accession number(s): A8K1R6
, B9EGM2, E9PAR9, O95135, Q63ZY4, Q6NVJ8, Q6PJW6, Q8IU61, Q8IU95, Q8WWM3, Q8WWM4, Q8WWM5, Q8WWM6, Q99703
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: September 13, 2004
Last modified: May 8, 2019
This is version 158 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Complete proteome, Direct protein sequencing, 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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