Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Zinc finger protein GLIS3

Gene

GLIS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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
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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ8NEA6

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein GLIS3
Alternative name(s):
GLI-similar 3
Zinc finger protein 515
Gene namesi
Name:GLIS3
Synonyms:ZNF515
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000107249.21
HGNCiHGNC:28510 GLIS3
MIMi610192 gene
neXtProtiNX_Q8NEA6

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH)2 Publications
The disease is caused by mutations 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.
See also OMIM:610199

Keywords - Diseasei

Congenital hypothyroidism

Organism-specific databases

DisGeNETi169792
MalaCardsiGLIS3
MIMi610199 phenotype
OpenTargetsiENSG00000107249
Orphaneti79118 Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
PharmGKBiPA134878768

Polymorphism and mutation databases

BioMutaiGLIS3
DMDMi322510143

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472111 – 775Zinc finger protein GLIS3Add BLAST775

Proteomic databases

MaxQBiQ8NEA6
PaxDbiQ8NEA6
PeptideAtlasiQ8NEA6
PRIDEiQ8NEA6

PTM databases

iPTMnetiQ8NEA6
PhosphoSitePlusiQ8NEA6

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

BgeeiENSG00000107249
CleanExiHS_GLIS3
ExpressionAtlasiQ8NEA6 baseline and differential
GenevisibleiQ8NEA6 HS

Organism-specific databases

HPAiHPA056426

Interactioni

Protein-protein interaction databases

BioGridi127988, 19 interactors
CORUMiQ8NEA6
IntActiQ8NEA6, 7 interactors
STRINGi9606.ENSP00000371398

Structurei

3D structure databases

ProteinModelPortaliQ8NEA6
SMRiQ8NEA6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi491 – 507Bipartite nuclear localization signalSequence analysisAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi41 – 154Ser-richAdd BLAST114
Compositional biasi289 – 306Pro-richAdd BLAST18

Sequence similaritiesi

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

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00900000140802
HOGENOMiHOG000231136
HOVERGENiHBG107950
InParanoidiQ8NEA6
KOiK09232
OMAiSHTLKPK
OrthoDBiEOG091G0IZP
PhylomeDBiQ8NEA6
TreeFamiTF350216

Family and domain databases

InterProiView protein in InterPro
IPR030405 GLIS3
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR19818:SF123 PTHR19818:SF123, 1 hit
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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

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

« Hide

        10         20         30         40         50
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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti347C → Y in AAH33899 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047148269S → P1 PublicationCorresponds to variant dbSNP:rs806052EnsemblClinVar.1
Natural variantiVAR_031062301P → Q1 PublicationCorresponds to variant dbSNP:rs6415788EnsemblClinVar.1
Natural variantiVAR_047149578P → L. Corresponds to variant dbSNP:rs10973986Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0382991M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2. Curated1

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]
UniGeneiHs.162125
Hs.644570

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLIS3_HUMAN
AccessioniPrimary (citable) accession number: Q8NEA6
Secondary accession number(s): B1AL19, Q1PHK5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: February 8, 2011
Last modified: May 23, 2018
This is version 135 of the entry and version 5 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health