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

Summary

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 brain; bronchus; female reproductive system; olfactory epithelium; and respiratory system epithelium. Orthologous to human GMNC (geminin coiled-coil domain containing). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
GemC1 directly transactivates the promoters of MCIDAS and FOXJ1.
Title: GemC1 controls multiciliogenesis in the airway epithelium.
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)

Endonuclease-mediated (2)
Targeted (5) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
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 cerebrospinal fluid circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multi-ciliated epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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

NC_000082.7 Reference GRCm39 C57BL/6J

Range

26775985..26810424 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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