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    GMNN geminin DNA replication inhibitor [ Homo sapiens (human) ]

    Gene ID: 51053, updated on 23-Nov-2023

    Summary

    Official Symbol
    GMNNprovided by HGNC
    Official Full Name
    geminin DNA replication inhibitorprovided by HGNC
    Primary source
    HGNC:HGNC:17493
    See related
    Ensembl:ENSG00000112312 MIM:602842; AllianceGenome:HGNC:17493
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gem; MGORS6
    Summary
    This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GMNN in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24774937..24786099)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24646065..24657235)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24775165..24786327)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 13 Neighboring gene chromosome 6 open reading frame 62 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24720063-24720856 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24721651-24722444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24157 Neighboring gene long intergenic non-protein coding RNA 2828 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:24754099-24754309 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:24758062-24758263 Neighboring gene AP3S1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24158 Neighboring gene uncharacterized LOC124901280 Neighboring gene armadillo like helical domain containing 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of transcription repressor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of transcription repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    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.

    Genomic

    1. NG_030440.1 RefSeqGene

      Range
      5007..16169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251989.2NP_001238918.1  geminin

      See identical proteins and their annotated locations for NP_001238918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF067855, AK021685, CB992796
      Consensus CDS
      CCDS4560.1
      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
      Related
      ENSP00000348902.3, ENST00000356509.7
      Conserved Domains (1) summary
      pfam07412
      Location:1184
      Geminin
    2. NM_001251990.2NP_001238919.1  geminin

      See identical proteins and their annotated locations for NP_001238919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF067855, AK021685, BM699599
      Consensus CDS
      CCDS4560.1
      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
      Conserved Domains (1) summary
      pfam07412
      Location:1184
      Geminin
    3. NM_001251991.1NP_001238920.1  geminin

      See identical proteins and their annotated locations for NP_001238920.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF067855, AL133264, BG777134, CB131959
      Consensus CDS
      CCDS4560.1
      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
      Related
      ENSP00000477506.1, ENST00000620958.4
      Conserved Domains (1) summary
      pfam07412
      Location:1184
      Geminin
    4. NM_015895.5NP_056979.1  geminin

      See identical proteins and their annotated locations for NP_056979.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF067855, AK021685, BC005389
      Consensus CDS
      CCDS4560.1
      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
      Related
      ENSP00000230056.3, ENST00000230056.8
      Conserved Domains (1) summary
      pfam07412
      Location:1184
      Geminin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      24774937..24786099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249159.3XP_005249216.1  geminin isoform X1

      See identical proteins and their annotated locations for XP_005249216.1

      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
      Conserved Domains (1) summary
      pfam07412
      Location:1184
      Geminin
    2. XM_011514651.3XP_011512953.1  geminin isoform X2

      UniProtKB/TrEMBL
      Q53GD9
      Conserved Domains (1) summary
      pfam07412
      Location:13183
      Geminin; Geminin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      24646065..24657235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355552.1XP_054211527.1  geminin isoform X1

      UniProtKB/Swiss-Prot
      B3KMM8, O75496, Q9H1Z1
      UniProtKB/TrEMBL
      Q53GD9
    2. XM_054355553.1XP_054211528.1  geminin isoform X2

      UniProtKB/TrEMBL
      Q53GD9