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    GLIS1 GLIS family zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 148979, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GLIS1provided by HGNC
    Official Full Name
    GLIS family zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:29525
    See related
    Ensembl:ENSG00000174332 MIM:610378; AllianceGenome:HGNC:29525
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GLIS1 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53506239..53739164, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53388327..53622016, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53971912..54204837, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378733 Neighboring gene Sharpr-MPRA regulatory region 5491 Neighboring gene solute carrier family 25 member 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53928578-53929106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53934837-53935376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53935377-53935914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53949500-53950120 Neighboring gene DMRT like family B with proline rich C-terminal 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53966190-53967030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53969230-53969793 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53972264-53972790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53972791-53973317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53992273-53992776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53993281-53993784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54005067-54006034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54006035-54007002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54011803-54012302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54042179-54042808 Neighboring gene MPRA-validated peak234 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54082618-54082784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54086231-54086735 Neighboring gene Sharpr-MPRA regulatory region 11088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54150404-54151233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54151234-54152062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54159647-54160273 Neighboring gene RNA, U7 small nuclear 95 pseudogene Neighboring gene MPRA-validated peak235 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54181253-54181752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54204253-54204971 Neighboring gene uncharacterized LOC124904179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54236211-54236773 Neighboring gene small nucleolar RNA SNORA58 Neighboring gene NDC1 transmembrane nucleoporin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GLIS1 in Cancer-Associated Fibroblasts Regulates the Migration and Invasion of Ovarian Cancer Cells. Kim MJ, et al. Int J Mol Sci, 2022 Feb 17. PMID 35216340, Free PMC Article
    2. Effect of GLIS1 on the Lymph Node Metastasis of Cervical Squamous Carcinoma Based on Transcriptome Analysis. Huang J, et al. Reprod Sci, 2024 May. PMID 38157104
    3. Regulatory role for Krüppel-like zinc-finger protein Gli-similar 1 (Glis1) in PMA-treated and psoriatic epidermis. Nakanishi G, et al. J Invest Dermatol, 2006 Jan. PMID 16417217, Free PMC Article
    4. GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A. Shimamoto K, et al. Carcinogenesis, 2020 Sep 24. PMID 32047936
    5. GLIS1 rs797906: an increased risk factor for late-onset Parkinson's disease in the Han Chinese population. Song W, et al. Eur Neurol, 2012. PMID 22759478

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of GLIS1 on the Lymph Node Metastasis of Cervical Squamous Carcinoma Based on Transcriptome Analysis.
      Title: Effect of GLIS1 on the Lymph Node Metastasis of Cervical Squamous Carcinoma Based on Transcriptome Analysis.
    2. GLIS1 in Cancer-Associated Fibroblasts Regulates the Migration and Invasion of Ovarian Cancer Cells.
      Title: GLIS1 in Cancer-Associated Fibroblasts Regulates the Migration and Invasion of Ovarian Cancer Cells.
    3. Elevating microRNA-1-3p shuttled by cancer-associated fibroblasts-derived extracellular vesicles suppresses breast cancer progression and metastasis by inhibiting GLIS1.
      Title: Elevating microRNA-1-3p shuttled by cancer-associated fibroblasts-derived extracellular vesicles suppresses breast cancer progression and metastasis by inhibiting GLIS1.
    4. GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A.
      Title: GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A.
    5. Gene of the month: GLIS1-3.
      Title: Gene of the month: GLIS1-3.
    6. GLIS1 is a susceptibility gene for mitral valve prolapse.
      Title: Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse.
    7. These results suggest that the hypoxic signaling pathway may play a pivotal role in regulating the reprogramming factor GLIS1, via non-canonical mechanisms involving partner transcription factor rather than by direct HIF transactivation.
      Title: The Krüppel-like zinc finger transcription factor, GLI-similar 1, is regulated by hypoxia-inducible factors via non-canonical mechanisms.
    8. found that allele 'A' of rs797906 SNP increases the risk for late-onset Parkinson Disease in the Han Chinese population.
      Title: GLIS1 rs797906: an increased risk factor for late-onset Parkinson's disease in the Han Chinese population.
    9. results therefore show that Glis1 effectively promotes the direct reprogramming of somatic cells during iPSC generation.
      Title: Direct reprogramming of somatic cells is promoted by maternal transcription factor Glis1.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein GLIS1
    Names
    GLI-similar 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001367484.1 → NP_001354413.1  zinc finger protein GLIS1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Consensus CDS
      CCDS90959.1
      UniProtKB/TrEMBL
      A0A0D9SEX9
      Related
      ENSP00000486112.1, ENST00000628545.2
      Conserved Domains (2) summary
      COG5048
      Location:435 → 514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 461
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001390836.1 → NP_001377765.1  zinc finger protein GLIS1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Conserved Domains (2) summary
      COG5048
      Location:447 → 522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:450 → 469
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001390837.1 → NP_001377766.1  zinc finger protein GLIS1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Consensus CDS
      CCDS90959.1
      UniProtKB/TrEMBL
      A0A0D9SEX9
      Conserved Domains (2) summary
      COG5048
      Location:435 → 514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 461
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001390838.1 → NP_001377767.1  zinc finger protein GLIS1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Conserved Domains (2) summary
      COG5048
      Location:435 → 514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 461
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_147193.4 → NP_671726.2  zinc finger protein GLIS1 isoform 1

      See identical proteins and their annotated locations for NP_671726.2

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Consensus CDS
      CCDS582.1
      UniProtKB/Swiss-Prot
      Q2M3G9, Q8N9V9, Q8NBF1
      Related
      ENSP00000309653.2, ENST00000312233.4
      Conserved Domains (3) summary
      COG5048
      Location:260 → 339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:264 → 286
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:278 → 305
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      53506239..53739164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000409.2 → XP_016855898.1  zinc finger protein GLIS1 isoform X1

    2. XM_017000411.2 → XP_016855900.1  zinc finger protein GLIS1 isoform X3

    3. XM_047447071.1 → XP_047303027.1  zinc finger protein GLIS1 isoform X1

    4. XM_047447086.1 → XP_047303042.1  zinc finger protein GLIS1 isoform X2

    5. XM_047447085.1 → XP_047303041.1  zinc finger protein GLIS1 isoform X2

    6. XM_017000412.2 → XP_016855901.1  zinc finger protein GLIS1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      53388327..53622016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334608.1 → XP_054190583.1  zinc finger protein GLIS1 isoform X1

    2. XM_054334611.1 → XP_054190586.1  zinc finger protein GLIS1 isoform X3

    3. XM_054334610.1 → XP_054190585.1  zinc finger protein GLIS1 isoform X2

    4. XM_054334609.1 → XP_054190584.1  zinc finger protein GLIS1 isoform X2

    5. XM_054334612.1 → XP_054190587.1  zinc finger protein GLIS1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBF1.2 GenPept UniProtKB/Swiss-Prot:Q8NBF1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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