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

Gene ID: 51053, updated on 3-Apr-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Alterations in the spatiotemporal expression pattern of geminin during human epidermal morphogenesis. Pasmatzi E, et al. Acta Dermatovenerol Alp Pannonica Adriat, 2023 Mar. PMID 36945759
  2. High expression of GMNN predicts malignant progression and poor prognosis in ACC. Zhao X, et al. Eur J Med Res, 2022 Dec 20. PMID 36539849, Free PMC Article
  3. Prognostic value of HPV 16/18 genotyping and geminin mRNA quantification in low-grade cervical squamous intraepithelial lesion. Zheng Z, et al. Bioengineered, 2021 Dec. PMID 34874226, Free PMC Article
  4. Cell kinetic markers in cutaneous squamous and basal cell carcinoma of the head and neck. Alaeddini M, et al. Braz J Otorhinolaryngol, 2022 Jul-Aug. PMID 32972865, Free PMC Article
  5. DNA Replication Inhibitor Geminin and Retinoic Acid Signaling Participate in Complex Interactions Associated With Pluripotency. Champeris Tsaniras S, et al. Cancer Genomics Proteomics, 2019 Nov-Dec. PMID 31659113, Free PMC Article

See all (136) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RAD51/geminin/gammaH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma.
    Title: RAD51/geminin/γH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma.
  2. Alterations in the spatiotemporal expression pattern of geminin during human epidermal morphogenesis.
    Title: Alterations in the spatiotemporal expression pattern of geminin during human epidermal morphogenesis.
  3. High expression of GMNN predicts malignant progression and poor prognosis in ACC.
    Title: High expression of GMNN predicts malignant progression and poor prognosis in ACC.
  4. Cell kinetic markers in cutaneous squamous and basal cell carcinoma of the head and neck.
    Title: Cell kinetic markers in cutaneous squamous and basal cell carcinoma of the head and neck.
  5. Prognostic value of HPV 16/18 genotyping and geminin mRNA quantification in low-grade cervical squamous intraepithelial lesion.
    Title: Prognostic value of HPV 16/18 genotyping and geminin mRNA quantification in low-grade cervical squamous intraepithelial lesion.
  6. SPOP mutation induces replication over-firing by impairing Geminin ubiquitination and triggers replication catastrophe upon ATR inhibition.
    Title: SPOP mutation induces replication over-firing by impairing Geminin ubiquitination and triggers replication catastrophe upon ATR inhibition.
  7. Targeting AXL and RAGE to prevent geminin overexpression-induced triple-negative breast cancer metastasis.
    Title: Targeting AXL and RAGE to prevent geminin overexpression-induced triple-negative breast cancer metastasis.
  8. DNA Replication Inhibitor Geminin and Retinoic Acid Signaling Participate in Complex Interactions Associated With Pluripotency.
    Title: DNA Replication Inhibitor Geminin and Retinoic Acid Signaling Participate in Complex Interactions Associated With Pluripotency.
  9. This study demonstrated that overexpressing UHRF1 was involved in vascular smooth cells proliferation through reducing inhibitory geminin protein levels to promote cell cycle as well as activating PI3K-Akt signaling.
    Title: Overexpression of UHRF1 promoted the proliferation of vascular smooth cells via the regulation of Geminin protein levels.
  10. Geminin family members are master regulators of centriole amplification and multiciliogenesis. (Review)
    Title: Controlling centriole numbers: Geminin family members as master regulators of centriole amplification and multiciliogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (67)

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

Associated conditions

Description Tests
Meier-Gorlin syndrome 6
MedGen: C4225188 OMIM: 616835 GeneReviews: Not available
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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
  
Process Evidence Code Pubs
involved_in DNA replication preinitiation complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell cycle NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated DNA replication initiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
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
  

General protein information

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Preferred Names
geminin

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.

Genomic

  1. NG_030440.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001251989.2 → NP_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:1 → 184
    Geminin

  2. NM_001251990.2 → NP_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:1 → 184
    Geminin

  3. NM_001251991.1 → NP_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:1 → 184
    Geminin

  4. NM_015895.5 → NP_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:1 → 184
    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_005249159.3 → XP_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:1 → 184
    Geminin

  2. XM_011514651.3 → XP_011512953.1  geminin isoform X2

    UniProtKB/TrEMBL
    Q53GD9
    Conserved Domains (1) summary
    pfam07412
    Location:13 → 183
    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_054355552.1 → XP_054211527.1  geminin isoform X1

    UniProtKB/Swiss-Prot
    B3KMM8, O75496, Q9H1Z1

  2. XM_054355553.1 → XP_054211528.1  geminin isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75496.1 GenPept UniProtKB/Swiss-Prot:O75496

Gene LinkOut

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