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UniProtKB - Q14CW9 (AT7L3_HUMAN)

Entry version 126 (25 May 2022)
Sequence version 1 (22 Aug 2006)
Previous versions | rss
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Protein

Ataxin-7-like protein 3

Gene

ATXN7L3

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

Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (PubMed:18206972, PubMed:21746879).

The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex (PubMed:18206972).

Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583).

UniRule annotation3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri84 – 105SGF11-typeUniRule annotationAdd BLAST22

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Molecular functionActivator, Chromatin regulator
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14CW9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214847, HATs acetylate histones

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

More...SignaLinki		Q14CW9

<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 3UniRule annotation
Alternative name(s):
SAGA-associated factor 11 homologUniRule annotation
<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:ATXN7L3UniRule annotation
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25416, ATXN7L3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		619010, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14CW9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000087152

<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

Keywords - Cellular componenti

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

Organism-specific databases

DisGeNET

More...DisGeNETi		56970

Open Targets

More...OpenTargetsi		ENSG00000087152

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134991793

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14CW9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATXN7L3

Domain mapping of disease mutations (DMDM)

More...DMDMi		121948758

<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_00002783011 – 347Ataxin-7-like protein 3Add BLAST347

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 residuei129PhosphoserineCombined sources1
Modified residuei131PhosphoserineCombined sources1
Modified residuei278PhosphoserineCombined sources1
Modified residuei281PhosphoserineCombined sources1
Modified residuei326PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14CW9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14CW9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14CW9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14CW9

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

More...PaxDbi		Q14CW9

PeptideAtlas

More...PeptideAtlasi		Q14CW9

PRoteomics IDEntifications database

More...PRIDEi		Q14CW9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60332 [Q14CW9-1]
60333 [Q14CW9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14CW9

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

More...PhosphoSitePlusi		Q14CW9

<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		ENSG00000087152, Expressed in frontal cortex and 206 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14CW9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14CW9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000087152, 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3, ENY2, GCN5L2, SUPT3H, TAF10, TRRAP and USP22. Within the SAGA complex, ENY2, ATXN7, ATXN7L3, and USP22 form an additional subcomplex of SAGA called the DUB module (deubiquitination module) (PubMed:18206972, PubMed:21746879, PubMed:27601583).

Interacts directly with ENY2 and USP22 (PubMed:18206972).

UniRule annotation3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121289, 47 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6802, SAGA complex, KAT2B variant
CPX-900, SAGA complex, KAT2A variant
CPX-903, TFTC histone acetylation complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q14CW9

Protein interaction database and analysis system

More...IntActi		Q14CW9, 37 interactors

Molecular INTeraction database

More...MINTi		Q14CW9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000397259

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14CW9, 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

Secondary structure

1347
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q14CW9

Biological Magnetic Resonance Data Bank

More...BMRBi		Q14CW9

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

More...SMRi		Q14CW9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q14CW9

<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>Domaini196 – 263SCA7UniRule annotationAdd BLAST68

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>Regioni116 – 184DisorderedSequence analysisAdd BLAST69
Regioni275 – 347DisorderedSequence analysisAdd BLAST73

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi143 – 178Basic and acidic residuesSequence analysisAdd BLAST36
Compositional biasi275 – 303Polar residuesSequence analysisAdd BLAST29

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The long N-terminal helix forms part of the 'assembly lobe' of the SAGA deubiquitination module.UniRule annotation1 Publication
The C-terminal SGF11-type zinc-finger domain together with the C-terminal catalytic domain of USP22 forms the 'catalytic lobe' of the SAGA deubiquitination module.UniRule annotation

<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 SGF11 family.UniRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri84 – 105SGF11-typeUniRule annotationAdd BLAST22

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2612, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158253

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14CW9

Identification of Orthologs from Complete Genome Data

More...OMAi		PSNYENM

Database of Orthologous Groups

More...OrthoDBi		1244885at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14CW9

TreeFam database of animal gene trees

More...TreeFami		TF324580

Family and domain databases

HAMAP database of protein families

More...HAMAPi		MF_03047, Sgf11, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013246, SAGA_su_Sgf11
IPR013243, SCA7_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08313, SCA7, 1 hit
PF08209, Sgf11, 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>Sequences (2+)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 describes 2 <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 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14CW9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MKMEEMSLSG LDNSKLEAIA QEIYADLVED SCLGFCFEVH RAVKCGYFFL 
        60         70         80         90        100
DDTDPDSMKD FEIVDQPGLD IFGQVFNQWK SKECVCPNCS RSIAASRFAP 
       110        120        130        140        150
HLEKCLGMGR NSSRIANRRI ANSNNMNKSE SDQEDNDDIN DNDWSYGSEK 
       160        170        180        190        200
KAKKRKSDKN PNSPRRSKSL KHKNGELSNS DPFKYNNSTG ISYETLGPEE 
       210        220        230        240        250
LRSLLTTQCG VISEHTKKMC TRSLRCPQHT DEQRRTVRIY FLGPSAVLPE 
       260        270        280        290        300
VESSLDNDSF DMTDSQALIS RLQWDGSSDL SPSDSGSSKT SENQGWGLGT 
       310        320        330        340 
NSSESRKTKK KKSHLSLVGT ASGLGSNKKK KPKPPAPPTP SIYDDIN
Length:347
Mass (Da):38,651
Last modified:August 22, 2006 - 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:i742D85BFF4ADD0C0
GO
Isoform 2 (identifier: Q14CW9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-159: K → KLWYLPFQ

Show »
Length:354
Mass (Da):39,599
Checksum:iEDB618080F2200D6
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENZ2K7ENZ2_HUMAN
SAGA-associated factor 11
ATXN7L3
147Annotation 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>
K7EMZ3K7EMZ3_HUMAN
SAGA-associated factor 11
ATXN7L3
139Annotation 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>
K7EKG9K7EKG9_HUMAN
Ataxin-7-like protein 3
ATXN7L3
308Annotation 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>
K7ENU1K7ENU1_HUMAN
Ataxin-7-like protein 3
ATXN7L3
186Annotation 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>
K7EJK2K7EJK2_HUMAN
Ataxin-7-like protein 3
ATXN7L3
72Annotation 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 AAH37418 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB71070 differs from that shown. Reason: Erroneous initiation.Curated

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_036721159K → KLWYLPFQ in isoform 2. 1 Publication1

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
BC037418 mRNA Translation: AAH37418.1 Different initiation.
BC113595 mRNA Translation: AAI13596.1
BC126113 mRNA Translation: AAI26114.1
AK056002 mRNA Translation: BAB71070.1 Different initiation.
AL390158 mRNA Translation: CAB99093.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS42345.1 [Q14CW9-1]
CCDS45697.1 [Q14CW9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001092303.1, NM_001098833.1
NP_064603.1, NM_020218.1
XP_016880374.1, XM_017024885.1
XP_016880375.1, XM_017024886.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000389384.8; ENSP00000374035.3; ENSG00000087152.16
ENST00000454077.6; ENSP00000397259.1; ENSG00000087152.16 [Q14CW9-2]
ENST00000587097.6; ENSP00000465614.2; ENSG00000087152.16

Database of genes from NCBI RefSeq genomes

More...GeneIDi		56970

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000587097.6; ENSP00000465614.2; NM_001382309.1; NP_001369238.1

UCSC genome browser

More...UCSCi		uc002ifz.4, human [Q14CW9-1]

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
BC037418 mRNA Translation: AAH37418.1 Different initiation.
BC113595 mRNA Translation: AAI13596.1
BC126113 mRNA Translation: AAI26114.1
AK056002 mRNA Translation: BAB71070.1 Different initiation.
AL390158 mRNA Translation: CAB99093.1
CCDSiCCDS42345.1 [Q14CW9-1]
CCDS45697.1 [Q14CW9-2]
RefSeqiNP_001092303.1, NM_001098833.1
NP_064603.1, NM_020218.1
XP_016880374.1, XM_017024885.1
XP_016880375.1, XM_017024886.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KKTNMR-A197-276[»]
AlphaFoldDBiQ14CW9
BMRBiQ14CW9
SMRiQ14CW9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121289, 47 interactors
ComplexPortaliCPX-6802, SAGA complex, KAT2B variant
CPX-900, SAGA complex, KAT2A variant
CPX-903, TFTC histone acetylation complex
CORUMiQ14CW9
IntActiQ14CW9, 37 interactors
MINTiQ14CW9
STRINGi9606.ENSP00000397259

PTM databases

iPTMnetiQ14CW9
PhosphoSitePlusiQ14CW9

Genetic variation databases

BioMutaiATXN7L3
DMDMi121948758

Proteomic databases

EPDiQ14CW9
jPOSTiQ14CW9
MassIVEiQ14CW9
MaxQBiQ14CW9
PaxDbiQ14CW9
PeptideAtlasiQ14CW9
PRIDEiQ14CW9
ProteomicsDBi60332 [Q14CW9-1]
60333 [Q14CW9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		54391, 84 antibodies from 24 providers

The DNASU plasmid repository

More...DNASUi		56970

Genome annotation databases

EnsembliENST00000389384.8; ENSP00000374035.3; ENSG00000087152.16
ENST00000454077.6; ENSP00000397259.1; ENSG00000087152.16 [Q14CW9-2]
ENST00000587097.6; ENSP00000465614.2; ENSG00000087152.16
GeneIDi56970
MANE-SelectiENST00000587097.6; ENSP00000465614.2; NM_001382309.1; NP_001369238.1
UCSCiuc002ifz.4, human [Q14CW9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		56970
DisGeNETi56970

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATXN7L3
HGNCiHGNC:25416, ATXN7L3
HPAiENSG00000087152, Low tissue specificity
MIMi619010, gene
neXtProtiNX_Q14CW9
OpenTargetsiENSG00000087152
PharmGKBiPA134991793
VEuPathDBiHostDB:ENSG00000087152

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2612, Eukaryota
GeneTreeiENSGT00940000158253
InParanoidiQ14CW9
OMAiPSNYENM
OrthoDBi1244885at2759
PhylomeDBiQ14CW9
TreeFamiTF324580

Enzyme and pathway databases

PathwayCommonsiQ14CW9
ReactomeiR-HSA-3214847, HATs acetylate histones
SignaLinkiQ14CW9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		56970, 211 hits in 1084 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ATXN7L3, human
EvolutionaryTraceiQ14CW9

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

More...GenomeRNAii		56970
PharosiQ14CW9, Tbio

Protein Ontology

More...PROi		PR:Q14CW9
RNActiQ14CW9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000087152, Expressed in frontal cortex and 206 other tissues
ExpressionAtlasiQ14CW9, baseline and differential
GenevisibleiQ14CW9, HS

Family and domain databases

HAMAPiMF_03047, Sgf11, 1 hit
InterProiView protein in InterPro
IPR013246, SAGA_su_Sgf11
IPR013243, SCA7_dom
PfamiView protein in Pfam
PF08313, SCA7, 1 hit
PF08209, Sgf11, 1 hit
PROSITEiView protein in PROSITE
PS51505, SCA7, 1 hit

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 nameiAT7L3_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: Q14CW9
Secondary accession number(s): Q8IY68, Q96N40, Q9NPU5
<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: August 22, 2006
Last modified: May 25, 2022
This is version 126 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
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