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

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: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (24774937..24786099)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (24646065..24657235)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (24775165..24786327)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99045 (e-PCR)
- UniSTS:88225

PMC166143P6 (e-PCR)
- UniSTS:271569

WI-12631 (e-PCR)
- UniSTS:53496

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	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	IBA Inferred from Biological aspect of Ancestor more info
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

NG_030440.1 RefSeqGene

Range

5007..16169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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