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UniProtKB - Q8NEA6 (GLIS3_HUMAN)

Entry version 155 (07 Apr 2021)
Sequence version 5 (08 Feb 2011)
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Protein

Zinc finger protein GLIS3

Gene

GLIS3

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

Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).By similarity

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 fingeri345 – 370C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri379 – 406C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri412 – 436C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri442 – 466C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri472 – 496C2H2-type 5PROSITE-ProRule annotationAdd BLAST25

<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, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NEA6

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NEA6

<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:
Zinc finger protein GLIS3
Alternative name(s):
GLI-similar 3
Zinc finger protein 515
<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:GLIS3
Synonyms:ZNF515
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28510, GLIS3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610192, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NEA6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000107249.21

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.
Related information in OMIM

Keywords - Diseasei

Congenital hypothyroidism, Diabetes mellitus

Organism-specific databases

DisGeNET

More...DisGeNETi		169792

MalaCards human disease database

More...MalaCardsi		GLIS3
MIMi610199, phenotype

Open Targets

More...OpenTargetsi		ENSG00000107249

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		79118, Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134878768

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NEA6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GLIS3

Domain mapping of disease mutations (DMDM)

More...DMDMi		322510143

<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_00000472111 – 775Zinc finger protein GLIS3Add BLAST775

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NEA6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NEA6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NEA6

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

More...PaxDbi		Q8NEA6

PeptideAtlas

More...PeptideAtlasi		Q8NEA6

PRoteomics IDEntifications database

More...PRIDEi		Q8NEA6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73140 [Q8NEA6-1]
73141 [Q8NEA6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NEA6

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

More...PhosphoSitePlusi		Q8NEA6

<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

In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107249, Expressed in buccal mucosa cell and 170 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NEA6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NEA6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000107249, Tissue enhanced (seminal)

<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 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		127988, 27 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8NEA6

Protein interaction database and analysis system

More...IntActi		Q8NEA6, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000371398

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NEA6, 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		Q8NEA6

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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi491 – 507Bipartite nuclear localization signalSequence analysisAdd BLAST17

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 biasi41 – 154Ser-richAdd BLAST114
Compositional biasi289 – 306Pro-richAdd BLAST18

<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 GLI C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri345 – 370C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri379 – 406C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri412 – 436C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri442 – 466C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri472 – 496C2H2-type 5PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156896

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014147_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NEA6

Identification of Orthologs from Complete Genome Data

More...OMAi		GGMSGTH

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NEA6

TreeFam database of animal gene trees

More...TreeFami		TF350216

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043359, GLI-like
IPR030405, GLIS3
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

The PANTHER Classification System

More...PANTHERi		PTHR45718, PTHR45718, 1 hit
PTHR45718:SF1, PTHR45718:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00096, zf-C2H2, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355, ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667, SSF57667, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 4 hits
PS50157, ZINC_FINGER_C2H2_2, 5 hits

<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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEA6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MMVQRLGLIS PPASQVSTAC NQISPSLQRA MNAANLNIPP SDTRSLISRE 
        60         70         80         90        100
SLASTTLSLT ESQSASSMKQ EWSQGYRALP SLSNHGSQNG LDLGDLLSLP 
       110        120        130        140        150
PGTSMSSNSV SNSLPSYLFG TESSHSPYPS PRHSSTRSHS ARSKKRALSL 
       160        170        180        190        200
SPLSDGIGID FNTIIRTSPT SLVAYINGSR ASPANLSPQP EVYGHFLGVR 
       210        220        230        240        250
GSCIPQPRPV PGSQKGVLVA PGGLALPAYG EDGALEHERM QQLEHGGLQP 
       260        270        280        290        300
GLVNHMVVQH GLPGPDSQSA GLFKTERLEE FPGSTVDLPP APPLPPLPPP 
       310        320        330        340        350
PGPPPPYHAH AHLHHPELGP HAQQLALPQA TLDDDGEMDG IGGKHCCRWI 
       360        370        380        390        400
DCSALYDQQE ELVRHIEKVH IDQRKGEDFT CFWAGCPRRY KPFNARYKLL 
       410        420        430        440        450
IHMRVHSGEK PNKCTFEGCE KAFSRLENLK IHLRSHTGEK PYLCQHPGCQ 
       460        470        480        490        500
KAFSNSSDRA KHQRTHLDTK PYACQIPGCT KRYTDPSSLR KHVKAHSSKE 
       510        520        530        540        550
QQARKKLRSS TELHPDLLTD CLTVQSLQPA TSPRDAAAEG TVGRSPGPGP 
       560        570        580        590        600
DLYSAPIFSS NYSSRSGTAA GAVPPPHPVS HPSPGHNVQG SPHNPSSQLP 
       610        620        630        640        650
PLTAVDAGAE RFAPSAPSPH HISPRRVPAP SSILQRTQPP YTQQPSGSHL 
       660        670        680        690        700
KSYQPETNSS FQPNGIHVHG FYGQLQKFCP PHYPDSQRIV PPVSSCSVVP 
       710        720        730        740        750
SFEDCLVPTS MGQASFDVFH RAFSTHSGIT VYDLPSSSSS LFGESLRSGA 
       760        770 
EDATFLQIST VDRCPSQLSS VYTEG
Length:775
Mass (Da):83,636
Last modified:February 8, 2011 - v5
<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:i1C8519AFCDF6C813
GO
Isoform 2 (identifier: Q8NEA6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNGRSCSMSL...NNLVVTSSPM

Show »
Length:930
Mass (Da):99,605
Checksum:iB31E78045EB5C953
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q1PHJ8Q1PHJ8_HUMAN
GLIS family zinc finger 3 transcrip...
GLIS3
244Annotation 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>
Q1PHJ2Q1PHJ2_HUMAN
GLIS family zinc finger 3 transcrip...
GLIS3
89Annotation 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>
A0A2R8YEK9A0A2R8YEK9_HUMAN
Zinc finger protein GLIS3
GLIS3
56Annotation 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>
F8WEV9F8WEV9_HUMAN
Zinc finger protein GLIS3
GLIS3
142Annotation 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>

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 conflicti347C → Y in AAH33899 (PubMed:15489334).Curated1

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_047148269S → P1 PublicationCorresponds to variant dbSNP:rs806052Ensembl.1
Natural variantiVAR_031062301P → Q1 PublicationCorresponds to variant dbSNP:rs6415788Ensembl.1
Natural variantiVAR_047149578P → L. Corresponds to variant dbSNP:rs10973986Ensembl.1

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_0382991M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2. Curated1

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
AL158012 Genomic DNA No translation available.
AL133283 Genomic DNA No translation available.
AL137071 Genomic DNA No translation available.
BC033899 mRNA Translation: AAH33899.2
DQ438877 mRNA Translation: ABE66434.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43784.1 [Q8NEA6-2]
CCDS6451.1 [Q8NEA6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001035878.1, NM_001042413.1 [Q8NEA6-2]
NP_689842.3, NM_152629.3 [Q8NEA6-1]
XP_005251443.1, XM_005251386.4 [Q8NEA6-1]
XP_011516065.1, XM_011517763.2 [Q8NEA6-2]
XP_011516066.1, XM_011517764.2 [Q8NEA6-2]
XP_011516068.1, XM_011517766.2 [Q8NEA6-1]
XP_016869850.1, XM_017014361.1 [Q8NEA6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324333; ENSP00000325494; ENSG00000107249 [Q8NEA6-1]
ENST00000381971; ENSP00000371398; ENSG00000107249 [Q8NEA6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		169792

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:169792

UCSC genome browser

More...UCSCi		uc003zhw.2, human [Q8NEA6-1]

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
AL158012 Genomic DNA No translation available.
AL133283 Genomic DNA No translation available.
AL137071 Genomic DNA No translation available.
BC033899 mRNA Translation: AAH33899.2
DQ438877 mRNA Translation: ABE66434.1
CCDSiCCDS43784.1 [Q8NEA6-2]
CCDS6451.1 [Q8NEA6-1]
RefSeqiNP_001035878.1, NM_001042413.1 [Q8NEA6-2]
NP_689842.3, NM_152629.3 [Q8NEA6-1]
XP_005251443.1, XM_005251386.4 [Q8NEA6-1]
XP_011516065.1, XM_011517763.2 [Q8NEA6-2]
XP_011516066.1, XM_011517764.2 [Q8NEA6-2]
XP_011516068.1, XM_011517766.2 [Q8NEA6-1]
XP_016869850.1, XM_017014361.1 [Q8NEA6-1]

3D structure databases

SMRiQ8NEA6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127988, 27 interactors
CORUMiQ8NEA6
IntActiQ8NEA6, 10 interactors
STRINGi9606.ENSP00000371398

PTM databases

iPTMnetiQ8NEA6
PhosphoSitePlusiQ8NEA6

Genetic variation databases

BioMutaiGLIS3
DMDMi322510143

Proteomic databases

jPOSTiQ8NEA6
MassIVEiQ8NEA6
MaxQBiQ8NEA6
PaxDbiQ8NEA6
PeptideAtlasiQ8NEA6
PRIDEiQ8NEA6
ProteomicsDBi73140 [Q8NEA6-1]
73141 [Q8NEA6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23977, 96 antibodies

The DNASU plasmid repository

More...DNASUi		169792

Genome annotation databases

EnsembliENST00000324333; ENSP00000325494; ENSG00000107249 [Q8NEA6-1]
ENST00000381971; ENSP00000371398; ENSG00000107249 [Q8NEA6-2]
GeneIDi169792
KEGGihsa:169792
UCSCiuc003zhw.2, human [Q8NEA6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		169792
DisGeNETi169792

GeneCards: human genes, protein and diseases

More...GeneCardsi		GLIS3
HGNCiHGNC:28510, GLIS3
HPAiENSG00000107249, Tissue enhanced (seminal)
MalaCardsiGLIS3
MIMi610192, gene
610199, phenotype
neXtProtiNX_Q8NEA6
OpenTargetsiENSG00000107249
Orphaneti79118, Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
PharmGKBiPA134878768
VEuPathDBiHostDB:ENSG00000107249.21

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000156896
HOGENOMiCLU_014147_1_0_1
InParanoidiQ8NEA6
OMAiGGMSGTH
PhylomeDBiQ8NEA6
TreeFamiTF350216

Enzyme and pathway databases

PathwayCommonsiQ8NEA6
SIGNORiQ8NEA6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		169792, 9 hits in 1011 CRISPR screens

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

More...ChiTaRSi		GLIS3, human

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

More...GenomeRNAii		169792
PharosiQ8NEA6, Tbio

Protein Ontology

More...PROi		PR:Q8NEA6
RNActiQ8NEA6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107249, Expressed in buccal mucosa cell and 170 other tissues
ExpressionAtlasiQ8NEA6, baseline and differential
GenevisibleiQ8NEA6, HS

Family and domain databases

InterProiView protein in InterPro
IPR043359, GLI-like
IPR030405, GLIS3
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type
PANTHERiPTHR45718, PTHR45718, 1 hit
PTHR45718:SF1, PTHR45718:SF1, 1 hit
PfamiView protein in Pfam
PF00096, zf-C2H2, 2 hits
SMARTiView protein in SMART
SM00355, ZnF_C2H2, 5 hits
SUPFAMiSSF57667, SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 4 hits
PS50157, ZINC_FINGER_C2H2_2, 5 hits

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 nameiGLIS3_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: Q8NEA6
Secondary accession number(s): B1AL19, Q1PHK5
<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: April 13, 2004
Last sequence update: February 8, 2011
Last modified: April 7, 2021
This is version 155 of the entry and version 5 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 chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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