U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 148979, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36155

    Gene Ontology Provided by GOA

    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

    Preferred Names
    zinc finger protein GLIS1
    Names
    GLI-similar 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001367484.1NP_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:435514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439461
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001390836.1NP_001377765.1  zinc finger protein GLIS1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Conserved Domains (2) summary
      COG5048
      Location:447522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:450469
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. NM_001390837.1NP_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:435514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439461
      ZF_C2H2; C2H2 Zn finger [structural motif]
    4. NM_001390838.1NP_001377767.1  zinc finger protein GLIS1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC105280, AL049745, AL591720
      Conserved Domains (2) summary
      COG5048
      Location:435514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439461
      ZF_C2H2; C2H2 Zn finger [structural motif]
    5. NM_147193.4NP_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:260339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:264286
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:278305
      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_017000409.2XP_016855898.1  zinc finger protein GLIS1 isoform X1

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

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

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

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

    6. XM_017000412.2XP_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_054334608.1XP_054190583.1  zinc finger protein GLIS1 isoform X1

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

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

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

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