UniProtKB - Q8NEA6 (GLIS3_HUMAN)
Protein
Zinc finger protein GLIS3
Gene
GLIS3
Organism
Homo sapiens (Human)
Status
Functioni
Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 345 – 370 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 379 – 406 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 28 | |
Zinc fingeri | 412 – 436 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 442 – 466 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 472 – 496 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription by RNA polymerase II Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8NEA6 |
SIGNORi | Q8NEA6 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein GLIS3Alternative name(s): GLI-similar 3 Zinc finger protein 515 |
Gene namesi | Name:GLIS3 Synonyms:ZNF515 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28510, GLIS3 |
MIMi | 610192, gene |
neXtProti | NX_Q8NEA6 |
VEuPathDBi | HostDB:ENSG00000107249.21 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
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 OMIMKeywords - Diseasei
Congenital hypothyroidism, Diabetes mellitusOrganism-specific databases
DisGeNETi | 169792 |
MalaCardsi | GLIS3 |
MIMi | 610199, phenotype |
OpenTargetsi | ENSG00000107249 |
Orphaneti | 79118, Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
PharmGKBi | PA134878768 |
Miscellaneous databases
Pharosi | Q8NEA6, Tbio |
Genetic variation databases
BioMutai | GLIS3 |
DMDMi | 322510143 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047211 | 1 – 775 | Zinc finger protein GLIS3Add BLAST | 775 |
Proteomic databases
jPOSTi | Q8NEA6 |
MassIVEi | Q8NEA6 |
MaxQBi | Q8NEA6 |
PaxDbi | Q8NEA6 |
PeptideAtlasi | Q8NEA6 |
PRIDEi | Q8NEA6 |
ProteomicsDBi | 73140 [Q8NEA6-1] 73141 [Q8NEA6-2] |
PTM databases
iPTMneti | Q8NEA6 |
PhosphoSitePlusi | Q8NEA6 |
Expressioni
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
Bgeei | ENSG00000107249, Expressed in buccal mucosa cell and 170 other tissues |
ExpressionAtlasi | Q8NEA6, baseline and differential |
Genevisiblei | Q8NEA6, HS |
Organism-specific databases
HPAi | ENSG00000107249, Tissue enhanced (seminal) |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q8NEA6-2]
Protein-protein interaction databases
BioGRIDi | 127988, 27 interactors |
CORUMi | Q8NEA6 |
IntActi | Q8NEA6, 10 interactors |
STRINGi | 9606.ENSP00000371398 |
Miscellaneous databases
RNActi | Q8NEA6, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 491 – 507 | Bipartite nuclear localization signalSequence analysisAdd BLAST | 17 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 41 – 154 | Ser-richAdd BLAST | 114 | |
Compositional biasi | 289 – 306 | Pro-richAdd BLAST | 18 |
Sequence similaritiesi
Belongs to the GLI C2H2-type zinc-finger protein family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 345 – 370 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 379 – 406 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 28 | |
Zinc fingeri | 412 – 436 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 442 – 466 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 472 – 496 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000156896 |
HOGENOMi | CLU_014147_1_0_1 |
InParanoidi | Q8NEA6 |
OMAi | GGMSGTH |
PhylomeDBi | Q8NEA6 |
TreeFami | TF350216 |
Family and domain databases
InterProi | View protein in InterPro IPR043359, GLI-like IPR030405, GLIS3 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR45718, PTHR45718, 1 hit PTHR45718:SF1, PTHR45718:SF1, 1 hit |
Pfami | View protein in Pfam PF00096, zf-C2H2, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 4 hits PS50157, ZINC_FINGER_C2H2_2, 5 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ1PHJ8 | Q1PHJ8_HUMAN | GLIS family zinc finger 3 transcrip... | GLIS3 | 244 | Annotation score: | ||
Q1PHJ2 | Q1PHJ2_HUMAN | GLIS family zinc finger 3 transcrip... | GLIS3 | 89 | Annotation score: | ||
A0A2R8YEK9 | A0A2R8YEK9_HUMAN | Zinc finger protein GLIS3 | GLIS3 | 56 | Annotation score: | ||
F8WEV9 | F8WEV9_HUMAN | Zinc finger protein GLIS3 | GLIS3 | 142 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 347 | C → Y in AAH33899 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047148 | 269 | S → P1 PublicationCorresponds to variant dbSNP:rs806052Ensembl. | 1 | |
Natural variantiVAR_031062 | 301 | P → Q1 PublicationCorresponds to variant dbSNP:rs6415788Ensembl. | 1 | |
Natural variantiVAR_047149 | 578 | P → L. Corresponds to variant dbSNP:rs10973986Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038299 | 1 | M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2. Curated | 1 |
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 |
CCDSi | CCDS43784.1 [Q8NEA6-2] CCDS6451.1 [Q8NEA6-1] |
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
Ensembli | ENST00000324333; ENSP00000325494; ENSG00000107249 [Q8NEA6-1] ENST00000381971; ENSP00000371398; ENSG00000107249 [Q8NEA6-2] |
GeneIDi | 169792 |
KEGGi | hsa:169792 |
UCSCi | uc003zhw.2, human [Q8NEA6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS43784.1 [Q8NEA6-2] CCDS6451.1 [Q8NEA6-1] |
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] |
3D structure databases
SMRi | Q8NEA6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127988, 27 interactors |
CORUMi | Q8NEA6 |
IntActi | Q8NEA6, 10 interactors |
STRINGi | 9606.ENSP00000371398 |
PTM databases
iPTMneti | Q8NEA6 |
PhosphoSitePlusi | Q8NEA6 |
Genetic variation databases
BioMutai | GLIS3 |
DMDMi | 322510143 |
Proteomic databases
jPOSTi | Q8NEA6 |
MassIVEi | Q8NEA6 |
MaxQBi | Q8NEA6 |
PaxDbi | Q8NEA6 |
PeptideAtlasi | Q8NEA6 |
PRIDEi | Q8NEA6 |
ProteomicsDBi | 73140 [Q8NEA6-1] 73141 [Q8NEA6-2] |
Protocols and materials databases
Antibodypediai | 23977, 96 antibodies |
DNASUi | 169792 |
Genome annotation databases
Ensembli | ENST00000324333; ENSP00000325494; ENSG00000107249 [Q8NEA6-1] ENST00000381971; ENSP00000371398; ENSG00000107249 [Q8NEA6-2] |
GeneIDi | 169792 |
KEGGi | hsa:169792 |
UCSCi | uc003zhw.2, human [Q8NEA6-1] |
Organism-specific databases
CTDi | 169792 |
DisGeNETi | 169792 |
GeneCardsi | GLIS3 |
HGNCi | HGNC:28510, GLIS3 |
HPAi | ENSG00000107249, Tissue enhanced (seminal) |
MalaCardsi | GLIS3 |
MIMi | 610192, gene 610199, phenotype |
neXtProti | NX_Q8NEA6 |
OpenTargetsi | ENSG00000107249 |
Orphaneti | 79118, Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
PharmGKBi | PA134878768 |
VEuPathDBi | HostDB:ENSG00000107249.21 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000156896 |
HOGENOMi | CLU_014147_1_0_1 |
InParanoidi | Q8NEA6 |
OMAi | GGMSGTH |
PhylomeDBi | Q8NEA6 |
TreeFami | TF350216 |
Enzyme and pathway databases
PathwayCommonsi | Q8NEA6 |
SIGNORi | Q8NEA6 |
Miscellaneous databases
BioGRID-ORCSi | 169792, 9 hits in 1011 CRISPR screens |
ChiTaRSi | GLIS3, human |
GenomeRNAii | 169792 |
Pharosi | Q8NEA6, Tbio |
PROi | PR:Q8NEA6 |
RNActi | Q8NEA6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107249, Expressed in buccal mucosa cell and 170 other tissues |
ExpressionAtlasi | Q8NEA6, baseline and differential |
Genevisiblei | Q8NEA6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR043359, GLI-like IPR030405, GLIS3 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR45718, PTHR45718, 1 hit PTHR45718:SF1, PTHR45718:SF1, 1 hit |
Pfami | View protein in Pfam PF00096, zf-C2H2, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 4 hits PS50157, ZINC_FINGER_C2H2_2, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GLIS3_HUMAN | |
Accessioni | Q8NEA6Primary (citable) accession number: Q8NEA6 Secondary accession number(s): B1AL19, Q1PHK5 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families