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

Gene ID: 51053, updated on 6-Jan-2019

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
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

Genomic context

See GMNN in Genome Data Viewer
Location:
6p22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (24774931..24786099)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24775159..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 uncharacterized LOC105374978 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene armadillo-like helical domain containing 2 Neighboring gene RHO family interacting cell polarization regulator 2 Neighboring gene uncharacterized LOC105374981 Neighboring gene MT-CO2 pseudogene 33

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Assembly of the pre-replicative complex, organism-specific biosystem (from REACTOME)
    Assembly of the pre-replicative complex, organism-specific biosystemDNA replication pre-initiation in eukaryotic cells begins with the formation of the pre-replicative complex (pre-RC) during the late M phase and continues in the G1 phase of the mitotic cell cycle, a...
  • Association of licensing factors with the pre-replicative complex, organism-specific biosystem (from REACTOME)
    Association of licensing factors with the pre-replicative complex, organism-specific biosystemThe eukaryotic six-subunit origin recognition complex (ORC) governs the initiation site of DNA replication and formation of the prereplication complex.
  • CDT1 association with the CDC6:ORC:origin complex, organism-specific biosystem (from REACTOME)
    CDT1 association with the CDC6:ORC:origin complex, organism-specific biosystemInitiation protein Cdt1 was first identified in X. laevis, where it has been shown to be the second component of licensing factor (RLF-B) and in S. pombe. Cdt1 homologs have been identified in D. mel...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • DNA Replication, organism-specific biosystem (from REACTOME)
    DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
  • DNA Replication, organism-specific biosystem (from WikiPathways)
    DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
  • DNA Replication Pre-Initiation, organism-specific biosystem (from REACTOME)
    DNA Replication Pre-Initiation, organism-specific biosystemAlthough, DNA replication occurs in the S phase of the cell cycle, the formation of the DNA replication pre-initiation complex begins during G1 phase.
  • M/G1 Transition, organism-specific biosystem (from REACTOME)
    M/G1 Transition, organism-specific biosystemFinally, progression out of mitosis and division of the cell into two daughters (cytokinesis) requires the inactivation of Cyclin B - Cdc2 by ubiquitin-dependent proteolysis of Cyclin A and B, which ...
  • Regulation of DNA replication, organism-specific biosystem (from REACTOME)
    Regulation of DNA replication, organism-specific biosystemDNA replication is regulated at various levels via ORC proteins. This pathway includes annotation of individual events that lead to the regulation of replication.
  • Removal of licensing factors from origins, organism-specific biosystem (from REACTOME)
    Removal of licensing factors from origins, organism-specific biosystemLicensing factors are removed from the origin by various means like biochemical modification (phosphorylation) or by physical association with other proteins. This pathway includes the annotations of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    5001..16169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001251989.1NP_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
    O75496
    UniProtKB/TrEMBL
    A0A024QZY7
    Related
    ENSP00000348902.3, ENST00000356509.7
    Conserved Domains (1) summary
    pfam07412
    Location:1184
    Geminin; Geminin
  2. NM_001251990.1NP_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
    O75496
    UniProtKB/TrEMBL
    A0A024QZY7
    Conserved Domains (1) summary
    pfam07412
    Location:1184
    Geminin; 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
    O75496
    UniProtKB/TrEMBL
    A0A024QZY7
    Related
    ENSP00000477506.1, ENST00000620958.4
    Conserved Domains (1) summary
    pfam07412
    Location:1184
    Geminin; 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
    O75496
    UniProtKB/TrEMBL
    A0A024QZY7
    Related
    ENSP00000230056.3, ENST00000230056.7
    Conserved Domains (1) summary
    pfam07412
    Location:1184
    Geminin; Geminin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    24774931..24786099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249159.2XP_005249216.1  geminin isoform X1

    See identical proteins and their annotated locations for XP_005249216.1

    UniProtKB/Swiss-Prot
    O75496
    UniProtKB/TrEMBL
    A0A024QZY7
    Conserved Domains (1) summary
    pfam07412
    Location:1184
    Geminin; Geminin
  2. XM_011514651.2XP_011512953.1  geminin isoform X2

    Conserved Domains (1) summary
    pfam07412
    Location:13183
    Geminin; Geminin
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