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Entry version 104 (12 Aug 2020)
Sequence version 1 (21 Dec 2004)
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Protein

Ataxin-7-like protein 2

Gene

ATXN7L2

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

Annotation score:2 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5T6C5

<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%5Fand%5Ftaxonomy%5Fsection">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-7-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ATXN7L2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000162650.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28713, ATXN7L2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T6C5

<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

DisGeNET

More...
DisGeNETi
127002

Open Targets

More...
OpenTargetsi
ENSG00000162650

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134927530

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5T6C5, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATXN7L2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74745198

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002783001 – 722Ataxin-7-like protein 2Add BLAST722

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 residuei575PhosphoserineCombined sources1

<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 - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5T6C5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5T6C5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5T6C5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5T6C5

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

More...
PaxDbi
Q5T6C5

PeptideAtlas

More...
PeptideAtlasi
Q5T6C5

PRoteomics IDEntifications database

More...
PRIDEi
Q5T6C5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
64577

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5T6C5

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

More...
PhosphoSitePlusi
Q5T6C5

<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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162650, Expressed in muscle of leg and 113 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5T6C5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5T6C5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000162650, Low tissue specificity

<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

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126028, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q5T6C5

Protein interaction database and analysis system

More...
IntActi
Q5T6C5, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358886

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5T6C5, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5T6C5

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini230 – 297SCA7PROSITE-ProRule annotationAdd BLAST68

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QVN4, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159736

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_019888_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5T6C5

KEGG Orthology (KO)

More...
KOi
K11318

Identification of Orthologs from Complete Genome Data

More...
OMAi
AMAFEEK

Database of Orthologous Groups

More...
OrthoDBi
693000at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5T6C5

TreeFam database of animal gene trees

More...
TreeFami
TF331337

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013243, SCA7_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08313, SCA7, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51505, SCA7, 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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q5T6C5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAVRERAAAA MAALERRVPS LDDFAGQSWS SWVERADLPA ADGAELEESS
60 70 80 90 100
KNTKKLDAMT LIKEDMSIFG HCPAHDDFYL VVCNHCSQVV KPQAFQKHCE
110 120 130 140 150
RRHGPLSKLY GRAPPPPPAP ASSQKCHVVN GQGPACRAPG STKTSSREKG
160 170 180 190 200
QGSRSRGHQP PEKTQKDNLC QPGGLTKDSP GKPPMAPPSK EPPGRENIEI
210 220 230 240 250
IPSEGSSHWA EGSPPEKEPS GTRLPPKTHR KMARKECDLN RQCGVINPET
260 270 280 290 300
KKICTRLLTC KIHSVHQRRE VQGRAKDFDV LVAELKANSR KGESPKEKSP
310 320 330 340 350
GRKEQVLERP SQELPSSVQV VAAVAAPSST FSVRAKQTYP YCALPRSRAS
360 370 380 390 400
SESELDDEGP CGGDGDPGLF PFPMPRGGTQ ASSEESEEEG TSDDLHPPPD
410 420 430 440 450
CHYATRPPRP QAFCTFGSRL VSPGCYVFSR RLDRFCSALS SMLERHLSTH
460 470 480 490 500
MWKKIPPAAE PPAHLVNSPL SAPLSPSSTG TCPRLPGPTL RPACPASMPP
510 520 530 540 550
TKDNLVPSYP AGSPSVAAAC SQAECMGGSQ AITSPLPANT PSPSFSKLPP
560 570 580 590 600
SKASKSSKGK DGVEVEAPSR KRKLSPGPTT LKRTCILEPT GKGKPSGCRG
610 620 630 640 650
LSAKTKTALS MGLNGTMGPR VKRAGPLDCR GSPHQLPTPV KASQLENRGA
660 670 680 690 700
AGHPAKALPT NCLSEEEVAK KRKNLATYCR PVKAKHCQAG APADVACSVR
710 720
RKKPGPALAF EEKCSTLKSK AH
Length:722
Mass (Da):77,181
Last modified:December 21, 2004 - v1
<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:iEAEF2D380B475A8D
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3G5S4R3G5_HUMAN
Ataxin-7-like protein 2
ATXN7L2
103Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_053780495P → S. Corresponds to variant dbSNP:rs1149172Ensembl.1

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
AL355145 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30794.1

NCBI Reference Sequences

More...
RefSeqi
NP_699171.3, NM_153340.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369870; ENSP00000358886; ENSG00000162650

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
127002

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:127002

UCSC genome browser

More...
UCSCi
uc001dxr.4, human

Keywords - Coding sequence diversityi

Polymorphism

<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
AL355145 Genomic DNA No translation available.
CCDSiCCDS30794.1
RefSeqiNP_699171.3, NM_153340.4

3D structure databases

SMRiQ5T6C5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126028, 11 interactors
CORUMiQ5T6C5
IntActiQ5T6C5, 8 interactors
STRINGi9606.ENSP00000358886

PTM databases

iPTMnetiQ5T6C5
PhosphoSitePlusiQ5T6C5

Polymorphism and mutation databases

BioMutaiATXN7L2
DMDMi74745198

Proteomic databases

EPDiQ5T6C5
jPOSTiQ5T6C5
MassIVEiQ5T6C5
MaxQBiQ5T6C5
PaxDbiQ5T6C5
PeptideAtlasiQ5T6C5
PRIDEiQ5T6C5
ProteomicsDBi64577

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33760, 156 antibodies

Genome annotation databases

EnsembliENST00000369870; ENSP00000358886; ENSG00000162650
GeneIDi127002
KEGGihsa:127002
UCSCiuc001dxr.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
127002
DisGeNETi127002
EuPathDBiHostDB:ENSG00000162650.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATXN7L2
HGNCiHGNC:28713, ATXN7L2
HPAiENSG00000162650, Low tissue specificity
neXtProtiNX_Q5T6C5
OpenTargetsiENSG00000162650
PharmGKBiPA134927530

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QVN4, Eukaryota
GeneTreeiENSGT00940000159736
HOGENOMiCLU_019888_1_0_1
InParanoidiQ5T6C5
KOiK11318
OMAiAMAFEEK
OrthoDBi693000at2759
PhylomeDBiQ5T6C5
TreeFamiTF331337

Enzyme and pathway databases

PathwayCommonsiQ5T6C5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
127002, 6 hits in 869 CRISPR screens

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

More...
GenomeRNAii
127002
PharosiQ5T6C5, Tdark

Protein Ontology

More...
PROi
PR:Q5T6C5
RNActiQ5T6C5, protein

Gene expression databases

BgeeiENSG00000162650, Expressed in muscle of leg and 113 other tissues
ExpressionAtlasiQ5T6C5, baseline and differential
GenevisibleiQ5T6C5, HS

Family and domain databases

InterProiView protein in InterPro
IPR013243, SCA7_dom
PfamiView protein in Pfam
PF08313, SCA7, 1 hit
PROSITEiView protein in PROSITE
PS51505, SCA7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiAT7L2_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: Q5T6C5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 21, 2004
Last modified: August 12, 2020
This is version 104 of the entry and version 1 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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