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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-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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri345 – 37026C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri379 – 40628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri412 – 43625C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri442 – 46625C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri472 – 49625C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

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
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:28510. GLIS3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MIMi610199. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 775775Zinc finger protein GLIS3PRO_0000047211Add
BLAST

Proteomic databases

MaxQBiQ8NEA6.
PaxDbiQ8NEA6.
PRIDEiQ8NEA6.

PTM databases

PhosphoSiteiQ8NEA6.

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

BgeeiQ8NEA6.
CleanExiHS_GLIS3.
ExpressionAtlasiQ8NEA6. baseline and differential.
GenevisibleiQ8NEA6. HS.

Organism-specific databases

HPAiHPA056426.

Interactioni

Protein-protein interaction databases

BioGridi127988. 2 interactions.
IntActiQ8NEA6. 3 interactions.
STRINGi9606.ENSP00000371398.

Structurei

3D structure databases

ProteinModelPortaliQ8NEA6.
SMRiQ8NEA6. Positions 347-530.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi491 – 50717Bipartite nuclear localization signalSequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi41 – 154114Ser-richAdd
BLAST
Compositional biasi289 – 30618Pro-richAdd
BLAST

Sequence similaritiesi

Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri345 – 37026C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri379 – 40628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri412 – 43625C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri442 – 46625C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri472 – 49625C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00760000118771.
HOGENOMiHOG000231136.
HOVERGENiHBG107950.
InParanoidiQ8NEA6.
KOiK09232.
OMAiGSHTLKP.
OrthoDBiEOG7TF78B.
PhylomeDBiQ8NEA6.
TreeFamiTF350216.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
InterProiIPR030405. GLIS3.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PANTHERiPTHR19818:SF71. PTHR19818:SF71. 1 hit.
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti347 – 3471C → Y in AAH33899 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti269 – 2691S → P.1 Publication
Corresponds to variant rs806052 [ dbSNP | Ensembl ].
VAR_047148
Natural varianti301 – 3011P → Q.1 Publication
Corresponds to variant rs6415788 [ dbSNP | Ensembl ].
VAR_031062
Natural varianti578 – 5781P → L.
Corresponds to variant rs10973986 [ dbSNP | Ensembl ].
VAR_047149

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2. CuratedVSP_038299

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL158012, AL133283, AL137071 Genomic DNA. Translation: CAH70655.1.
AL133283, AL137071, AL158012 Genomic DNA. Translation: CAH72449.1.
AL137071, AL133283, AL158012 Genomic DNA. Translation: CAI39818.1.
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_005251386.3. [Q8NEA6-1]
UniGeneiHs.162125.

Genome annotation databases

EnsembliENST00000324333; ENSP00000325494; ENSG00000107249. [Q8NEA6-1]
ENST00000381971; ENSP00000371398; ENSG00000107249. [Q8NEA6-2]
GeneIDi169792.
KEGGihsa:169792.
UCSCiuc003zhw.1. human. [Q8NEA6-1]
uc003zhx.1. human. [Q8NEA6-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL158012, AL133283, AL137071 Genomic DNA. Translation: CAH70655.1.
AL133283, AL137071, AL158012 Genomic DNA. Translation: CAH72449.1.
AL137071, AL133283, AL158012 Genomic DNA. Translation: CAI39818.1.
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_005251386.3. [Q8NEA6-1]
UniGeneiHs.162125.

3D structure databases

ProteinModelPortaliQ8NEA6.
SMRiQ8NEA6. Positions 347-530.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127988. 2 interactions.
IntActiQ8NEA6. 3 interactions.
STRINGi9606.ENSP00000371398.

PTM databases

PhosphoSiteiQ8NEA6.

Polymorphism and mutation databases

BioMutaiGLIS3.
DMDMi322510143.

Proteomic databases

MaxQBiQ8NEA6.
PaxDbiQ8NEA6.
PRIDEiQ8NEA6.

Protocols and materials databases

DNASUi169792.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324333; ENSP00000325494; ENSG00000107249. [Q8NEA6-1]
ENST00000381971; ENSP00000371398; ENSG00000107249. [Q8NEA6-2]
GeneIDi169792.
KEGGihsa:169792.
UCSCiuc003zhw.1. human. [Q8NEA6-1]
uc003zhx.1. human. [Q8NEA6-2]

Organism-specific databases

CTDi169792.
GeneCardsiGC09M003816.
HGNCiHGNC:28510. GLIS3.
HPAiHPA056426.
MIMi610192. gene.
610199. phenotype.
neXtProtiNX_Q8NEA6.
Orphaneti79118. Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys.
PharmGKBiPA134878768.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00760000118771.
HOGENOMiHOG000231136.
HOVERGENiHBG107950.
InParanoidiQ8NEA6.
KOiK09232.
OMAiGSHTLKP.
OrthoDBiEOG7TF78B.
PhylomeDBiQ8NEA6.
TreeFamiTF350216.

Miscellaneous databases

ChiTaRSiGLIS3. human.
GenomeRNAii169792.
NextBioi88833.
PROiQ8NEA6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NEA6.
CleanExiHS_GLIS3.
ExpressionAtlasiQ8NEA6. baseline and differential.
GenevisibleiQ8NEA6. HS.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
InterProiIPR030405. GLIS3.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PANTHERiPTHR19818:SF71. PTHR19818:SF71. 1 hit.
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PRO-269 AND GLN-301.
    Tissue: Testis.
  3. "Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism."
    Senee V., Chelala C., Duchatelet S., Feng D., Blanc H., Cossec J.-C., Charon C., Nicolino M., Boileau P., Cavener D.R., Bougneres P., Taha D., Julier C.
    Nat. Genet. 38:682-687(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN NDH.
  4. "GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions."
    Kim Y.-S., Nakanishi G., Lewandoski M., Jetten A.M.
    Nucleic Acids Res. 31:5513-5525(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. Cited for: INVOLVEMENT IN NDH.

Entry informationi

Entry nameiGLIS3_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 112 of the entry and version 5 of the sequence. [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

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.