GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008] See more...

Aliases for GLIS1 Gene

Aliases for GLIS1 Gene

  • GLIS Family Zinc Finger 1 2 3 5
  • Zinc Finger Protein GLIS1 3 4
  • GLI-Similar 1 3 4
  • Gli-Similar 1 2

External Ids for GLIS1 Gene

Previous GeneCards Identifiers for GLIS1 Gene

  • GC01M053683
  • GC01M053971
  • GC01M052086

Summaries for GLIS1 Gene

Entrez Gene Summary for GLIS1 Gene

  • GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GLIS1 Gene

GLIS1 (GLIS Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with GLIS1 include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Neonatal Diabetes Mellitus. Gene Ontology (GO) annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is GLIS3.

UniProtKB/Swiss-Prot Summary for GLIS1 Gene

  • Acts as both a repressor and activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells (PubMed:21654807). Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity).

Additional gene information for GLIS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLIS1 Gene

Genomics for GLIS1 Gene

GeneHancer (GH) Regulatory Elements for GLIS1 Gene

Promoters and enhancers for GLIS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J053730 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 513.3 +1.8 1782 10.9 ZSCAN5C SP1 FOS ZNF10 ZIC2 ZBTB26 TRIM28 RFX1 SKI ATF2 GLIS1 RNU7-95P ENSG00000201003 lnc-NDC1-1
GH01J053693 Enhancer 0.5 Ensembl 18.3 +43.8 43806 1 ZIC2 CTBP1 CREM ESRRA ATF3 ZNF121 SCRT2 GLIS1 lnc-NDC1-1
GH01J053685 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 7.9 +52.4 52433 2.3 ZIC2 CTCF FOXA2 ZBTB17 TCF7L2 POLR2A ZNF335 EZH2 SMARCA4 TEAD3 GLIS1 RF00066-008 RNU7-95P piR-57866
GH01J053582 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 7.4 +153.7 153705 4.4 ZIC2 TCF12 POLR2A USF1 IKZF1 NR2F1 KLF17 SCRT1 FOXP2 TCF7L2 RNU7-95P GLIS1 ENSG00000235563 piR-58519 piR-39025
GH01J053617 Enhancer 0.7 Ensembl ENCODE 10.3 +120.6 120553 1.1 FOS CTCF POLR2A RAD21 SMARCA4 BHLHE40 ZFP36 ATF3 NFE2L2 CEBPB RNU7-95P GLIS1 piR-58519 piR-57866
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLIS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLIS1

Genomic Locations for GLIS1 Gene

Genomic Locations for GLIS1 Gene
chr1:53,506,233-53,738,106
(GRCh38/hg38)
Size:
231,874 bases
Orientation:
Minus strand
chr1:53,971,906-54,199,877
(GRCh37/hg19)
Size:
227,972 bases
Orientation:
Minus strand

Genomic View for GLIS1 Gene

Genes around GLIS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLIS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLIS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLIS1 Gene

Proteins for GLIS1 Gene

  • Protein details for GLIS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBF1-GLIS1_HUMAN
    Recommended name:
    Zinc finger protein GLIS1
    Protein Accession:
    Q8NBF1
    Secondary Accessions:
    • Q2M3G9
    • Q8N9V9

    Protein attributes for GLIS1 Gene

    Size:
    620 amino acids
    Molecular mass:
    65976 Da
    Quaternary structure:
    • Interacts with KLF4 (PubMed:21654807). Interacts with POU5F1 and/or POU5F1B (PubMed:21654807). Interacts with SOX2 (PubMed:21654807).
    SequenceCaution:
    • Sequence=BAC04178.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GLIS1 Gene

Post-translational modifications for GLIS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GLIS1 Gene

No data available for DME Specific Peptides for GLIS1 Gene

Domains & Families for GLIS1 Gene

Gene Families for GLIS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GLIS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLIS1 Gene

GenScript: Design optimal peptide antigens:
  • GLI-similar 1 (GLIS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBF1

UniProtKB/Swiss-Prot:

GLIS1_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with GLIS1: view

Function for GLIS1 Gene

Molecular function for GLIS1 Gene

UniProtKB/Swiss-Prot Function:
Acts as both a repressor and activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells (PubMed:21654807). Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity).

Phenotypes From GWAS Catalog for GLIS1 Gene

Gene Ontology (GO) - Molecular Function for GLIS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with GLIS1: view
genes like me logo Genes that share phenotypes with GLIS1: view

Animal Models for GLIS1 Gene

MGI Knock Outs for GLIS1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for GLIS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GLIS1 Gene

Localization for GLIS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLIS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLIS1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GLIS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
genes like me logo Genes that share ontologies with GLIS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLIS1 Gene

Pathways & Interactions for GLIS1 Gene

PathCards logo

SuperPathways for GLIS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GLIS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0001649 osteoblast differentiation IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0010454 negative regulation of cell fate commitment IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GLIS1: view

No data available for Pathways by source and SIGNOR curated interactions for GLIS1 Gene

Drugs & Compounds for GLIS1 Gene

No Compound Related Data Available

Transcripts for GLIS1 Gene

mRNA/cDNA for GLIS1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GLIS1

Alternative Splicing Database (ASD) splice patterns (SP) for GLIS1 Gene

No ASD Table

Relevant External Links for GLIS1 Gene

GeneLoc Exon Structure for
GLIS1

Expression for GLIS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLIS1 Gene

mRNA differential expression in normal tissues according to GTEx for GLIS1 Gene

This gene is overexpressed in Prostate (x5.9) and Cervix - Endocervix (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GLIS1 Gene



Protein tissue co-expression partners for GLIS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLIS1

SOURCE GeneReport for Unigene cluster for GLIS1 Gene:

Hs.306691

Evidence on tissue expression from TISSUES for GLIS1 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with GLIS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLIS1 Gene

Orthologs for GLIS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLIS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLIS1 31 30
  • 98.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLIS1 31 30
  • 88.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLIS1 31 30
  • 88.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glis1 30
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Glis1 17 31 30
  • 83.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLIS1 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLIS1 31 30
  • 64.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLIS1 31
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100333406 30
  • 65.01 (n)
glis1b 31
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lmd 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ztf-14 31
  • 20 (a)
ManyToMany
tra-1 31
  • 13 (a)
ManyToMany
Species where no ortholog for GLIS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLIS1 Gene

ENSEMBL:
Gene Tree for GLIS1 (if available)
TreeFam:
Gene Tree for GLIS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLIS1: view image

Paralogs for GLIS1 Gene

Paralogs for GLIS1 Gene

(21) SIMAP similar genes for GLIS1 Gene using alignment to 1 proteins:

  • GLIS1_HUMAN
genes like me logo Genes that share paralogs with GLIS1: view

Variants for GLIS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLIS1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
730659 Benign: not provided 53,594,651(-) G/C SYNONYMOUS_VARIANT
771841 Benign: not provided 53,594,436(-) A/G MISSENSE_VARIANT
784949 Benign: not provided 53,524,767(-) G/C INTRON_VARIANT
786804 Benign: not provided 53,594,755(-) C/T MISSENSE_VARIANT
790299 Benign: not provided 53,594,669(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GLIS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GLIS1 Gene

Variant ID Type Subtype PubMed ID
esv1769487 CNV insertion 17803354
esv2313944 CNV deletion 18987734
esv2670230 CNV deletion 23128226
esv2748286 CNV deletion 23290073
esv2748297 CNV deletion 23290073
esv2758936 CNV loss 17122850
esv3394793 CNV duplication 20981092
esv3586069 CNV loss 21293372
esv3586070 CNV loss 21293372
esv3586072 CNV loss 21293372
esv3586074 CNV loss 21293372
nsv1011262 CNV gain 25217958
nsv10162 CNV loss 18304495
nsv1113118 CNV deletion 24896259
nsv1132287 CNV duplication 24896259
nsv1141745 CNV insertion 24896259
nsv1144375 CNV deletion 24896259
nsv1153760 CNV duplication 26484159
nsv428443 CNV gain 18775914
nsv461494 CNV loss 19166990
nsv461506 CNV loss 19166990
nsv473585 CNV novel sequence insertion 20440878
nsv474645 CNV novel sequence insertion 20440878
nsv478320 CNV novel sequence insertion 20440878
nsv509269 CNV insertion 20534489
nsv509280 CNV insertion 20534489
nsv512739 CNV insertion 21212237
nsv522165 CNV loss 19592680
nsv527806 CNV loss 19592680
nsv546258 CNV loss 21841781
nsv546259 CNV loss 21841781
nsv829882 CNV loss 17160897
nsv888 CNV deletion 18451855
nsv899 CNV insertion 18451855

Variation tolerance for GLIS1 Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.15; 80.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLIS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLIS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLIS1 Gene

Disorders for GLIS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GLIS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myoclonic epilepsy associated with ragged-red fibers
  • merrf
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search GLIS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GLIS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLIS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLIS1 Gene

Publications for GLIS1 Gene

  1. Direct reprogramming of somatic cells is promoted by maternal transcription factor Glis1. (PMID: 21654807) Maekawa M … Yamanaka S (Nature 2011) 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber MJ … Krauss RM (PloS one 2010) 3 41 54
  4. Regulatory role for Krüppel-like zinc-finger protein Gli-similar 1 (Glis1) in PMA-treated and psoriatic epidermis. (PMID: 16417217) Nakanishi G … Jetten AM (The Journal of investigative dermatology 2006) 3 23 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GLIS1 Gene

Sources for GLIS1 Gene