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Gmnc geminin coiled-coil domain containing [ Mus musculus (house mouse) ]

Gene ID: 239789, updated on 21-Apr-2024

Summary

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Official Symbol
Gmncprovided by MGI
Official Full Name
geminin coiled-coil domain containingprovided by MGI
Primary source
MGI:MGI:2685452
See related
Ensembl:ENSMUSG00000068428 AllianceGenome:MGI:2685452
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gemc1; Gm606; Gm1778
Summary
Predicted to enable chromatin binding activity. Involved in DNA replication. Acts upstream of or within cilium assembly. Predicted to be active in nucleus. Is expressed in several structures, including bronchus; choroid plexus; female reproductive system; olfactory epithelium; and respiratory system epithelium. Orthologous to human GMNC (geminin coiled-coil domain containing). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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Location:
16 B2; 16 18.56 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (26775985..26810424, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (26957235..26991675, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40486 Neighboring gene transmembrane protein 207 Neighboring gene STARR-positive B cell enhancer mm9_chr16:26581671-26581972 Neighboring gene interleukin 1 receptor accessory protein Neighboring gene predicted gene, 20319 Neighboring gene STARR-seq mESC enhancer starr_40487 Neighboring gene STARR-seq mESC enhancer starr_40489 Neighboring gene STARR-seq mESC enhancer starr_40490 Neighboring gene STARR-seq mESC enhancer starr_40491 Neighboring gene STARR-seq mESC enhancer starr_40492 Neighboring gene STARR-seq mESC enhancer starr_40493 Neighboring gene STARR-seq mESC enhancer starr_40494 Neighboring gene predicted gene, 32312 Neighboring gene voltage-dependent anion channel 3 pseudogene Neighboring gene osteocrin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. GemC1 is a critical switch for neural stem cell generation in the postnatal brain. Lalioti ME, et al. Glia, 2019 Dec. PMID 31328313
  2. GemC1 governs multiciliogenesis through direct interaction with and transcriptional regulation of p73. Lalioti ME, et al. J Cell Sci, 2019 Jun 3. PMID 31028178
  3. GEMC1 is a critical regulator of multiciliated cell differentiation. Terré B, et al. EMBO J, 2016 May 2. PMID 26933123, Free PMC Article
  4. p53/p21 pathway activation contributes to the ependymal fate decision downstream of GemC1. Ortiz-Álvarez G, et al. Cell Rep, 2022 Dec 13. PMID 36516767
  5. Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice. Terré B, et al. Development, 2019 Apr 23. PMID 30936178, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GemC1 regulates the transcriptional activation of p73, a transcription factor central to multiciliogenesis. GemC1 regulates multiciliogenesis through the control of chromatin organization, and the epigenetic marks/tags of p73 and Foxj 1.
    Title: GemC1 governs multiciliogenesis through direct interaction with and transcriptional regulation of p73.
  2. GemC1 regulates the balance between neural stem cell generation and ependymal cell differentiation.
    Title: GemC1 is a critical switch for neural stem cell generation in the postnatal brain.
  3. Data show defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice
    Title: Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice.
  4. GMNC protein induces Mci expression that drives the second step of basal body production for multiciliation
    Title: Mcidas mutant mice reveal a two-step process for the specification and differentiation of multiciliated cells in mammals.
  5. GemC1 and Geminin can tune the proportion of neural stem cells and ependymal cells. Findings reveal the controlled dynamic of the neurogenic niche ontogeny and identify the Geminin family members as key regulators of the initial pool of adult neural stem cells.
    Title: Adult Neural Stem Cells and Multiciliated Ependymal Cells Share a Common Lineage Regulated by the Geminin Family Members.
  6. The authors found that GEMC1-deficient mice are growth impaired, develop hydrocephaly with a high penetrance, and are infertile, due to defects in the formation of multiciliated cells in the brain, respiratory tract, and germline.
    Title: GEMC1 is a critical regulator of multiciliated cell differentiation.
  7. GemC1 directly transactivates the promoters of MCIDAS and FOXJ1.
    Title: GemC1 controls multiciliogenesis in the airway epithelium.
  8. Results suggest that Mcidas and GemC1 are key players in the generation of multiciliated ependymal cells of the adult neurogenic niche.
    Title: Mcidas and GemC1 are key regulators for the generation of multiciliated ependymal cells in the adult neurogenic niche.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
geminin coiled-coil domain-containing protein 1

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.

mRNA and Protein(s)

  1. NM_001013761.2 → NP_001013783.1  geminin coiled-coil domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001013783.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC154565, AK160719, BC086669
    Consensus CDS
    CCDS37304.1
    UniProtKB/Swiss-Prot
    Q3URY2
    Related
    ENSMUSP00000087269.5, ENSMUST00000089832.6
    Conserved Domains (1) summary
    pfam09457
    Location:95 → 136
    RBD-FIP; FIP domain

  2. NM_001285916.1 → NP_001272845.1  geminin coiled-coil domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001272845.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and contains an alternate 5' terminal exon compared to variant 1. The encoded protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC154565, AK141059, BC086669
    Consensus CDS
    CCDS88906.1
    UniProtKB/Swiss-Prot
    Q3TUK3, Q3URY2, Q5RJG4
    Related
    ENSMUSP00000156070.2, ENSMUST00000231969.2
    Conserved Domains (2) summary
    PHA02557
    Location:90 → 189
    22; prohead core protein; Provisional
    pfam09457
    Location:89 → 130
    RBD-FIP; FIP domain

  3. NM_001285918.1 → NP_001272847.1  geminin coiled-coil domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001272847.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC154565, AK160719, BC086669
    Consensus CDS
    CCDS88907.1
    UniProtKB/Swiss-Prot
    Q3URY2
    Related
    ENSMUSP00000156264.2, ENSMUST00000231299.2
    Conserved Domains (2) summary
    PHA02557
    Location:48 → 147
    22; prohead core protein; Provisional
    pfam09457
    Location:47 → 88
    RBD-FIP; FIP domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    26775985..26810424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006522113.4 → XP_006522176.1  geminin coiled-coil domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    PHA02557
    Location:92 → 191
    22; prohead core protein; Provisional
    pfam09457
    Location:91 → 132
    RBD-FIP; FIP domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3URY2.1 GenPept UniProtKB/Swiss-Prot:Q3URY2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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