GMNN
Geminin
Also known as: Gem, GEMI_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75496
- Gene
- GMNN
- Ensembl
- ENSG00000112312
- Chromosome
- 6
- Canonical length
- 209 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
209 residues, UniProt reviewed canonical sequence.
>O75496|GMNN
1 MNPSMKQKQE EIKENIKNSS VPRRTLKMIQ PSASGSLVGR ENELSAGLSK RKHRNDHLTS
61 TTSSPGVIVP ESSENKNLGG VTQESFDLMI KENPSSQYWK EVAEKRRKAL YEALKENEKL
121 HKEIEQKDNE IARLKKENKE LAEVAEHVQY MAELIERLNG EPLDNFESLD NQEFDSEEET
181 VEDSLVEDSE IGTCAEGTVS SSTDAKPCILocalizationUniProt · AlphaFold · HPA
Whether an antibody against GMNN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 218 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 218 nTPM
- bone marrow: 65 nTPM
- rectum: 42 nTPM
- colon: 39 nTPM
- prostate: 39 nTPM
- skin: 38 nTPM
Single-cell type
- oocytes: 433 nCPM
- endometrial luminal cells: 313 nCPM
- enteric stem cells: 251 nCPM
- late primary spermatocytes: 247 nCPM
- endometrial glandular cells: 235 nCPM
- pancreatic duct cells: 215 nCPM
Immune cell
- eosinophil: 17 nTPM
- T-reg: 16 nTPM
- plasmacytoid DC: 9.4 nTPM
- memory B-cell: 9.3 nTPM
- memory CD4 T-cell: 8.5 nTPM
- myeloid DC: 7.6 nTPM
Brain region
- hypothalamus: 23 nTPM
- midbrain: 23 nTPM
- thalamus: 21 nTPM
- cerebellum: 21 nTPM
- pons: 18 nTPM
- basal ganglia: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GMNN.
Disease | AllUniProt
Conditions GMNN is implicated in, by any mechanism.
- Meier-Gorlin syndrome 6 (MGORS6) MIM:616835
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 128 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Meier-Gorlin syndrome
- Meier-Gorlin syndrome 6
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0.11
- gnomAD missense Z
- 0.99
- DepMap mean gene effect
- -0.53
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- negative regulation of cell cycle
- negative regulation of DNA replication
- negative regulation of DNA-templated DNA replication
- negative regulation of DNA-templated transcription
- protein-containing complex assembly
- regulation of DNA replication
- regulation of DNA-templated DNA replication initiation
- regulation of mitotic cell cycle
- negative regulation of mitotic DNA replication initiation
Molecular functions
- chromatin binding
- DNA-binding transcription factor binding
- histone deacetylase binding
- transcription corepressor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GMNN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GMNN as an antibody target. Whether an autoantibody or antibody against GMNN could matter depends on whether native GMNN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GMNN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GMNN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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