Mns1 meiosis-specific nuclear structural protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mns1provided by MGI
Official Full Name: meiosis-specific nuclear structural protein 1provided by MGI
Primary source: MGI:MGI:107933
See related: Ensembl:ENSMUSG00000032221 AllianceGenome:MGI:107933
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
Summary: Predicted to enable identical protein binding activity. Involved in positive regulation of cilium assembly and sperm axoneme assembly. Acts upstream of or within cilium organization and left/right axis specification. Located in axoneme; intermediate filament; and nuclear envelope. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human MNS1 (meiosis specific nuclear structural 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14 (RPKM 19.9), liver E14.5 (RPKM 12.9) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 40.08 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (72345276..72366036)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (72437821..72458581)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.
Title: BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.
Prenatal alcohol exposure Mns1(-/-) fetuses with severe eye defects also presented with craniofacial dysmorphologies characteristic of fetal alcohol syndrome and midline tissue loss in the brain, palate, and nasal septum
Title: Knockdown of Mns1 Increases Susceptibility to Craniofacial Defects Following Gastrulation-Stage Alcohol Exposure in Mice.
Compared to other embryonic tissues at this developmental stage, Mns1 expression is strongly enriched in the ventral node.
Title: Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
These results demonstrate that MNS1 is essential for spermiogenesis, the assembly of sperm flagella, and motile ciliary functions.
Title: MNS1 is essential for spermiogenesis and motile ciliary functions in mice.
MNS1 is an integral component of sperm flagella. Mice lacking MNS1 exhibit male sterility as evidenced by abnormal assembly of flagella. MNS1-deficient mice also display defects in left-right asymmetry patterning of internal organs and hydrocephalus.
Title: MNS1 is essential for spermiogenesis and motile ciliary functions in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

General gene information

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Markers

Mns1 (e-PCR), detects polymorphism
- UniSTS:143889

D14849 (e-PCR)
- UniSTS:159897

AW546487 (e-PCR)
- UniSTS:179929

D9Dcr10 (e-PCR), detects polymorphism
- UniSTS:498926

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within left/right axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axonemal A tubule inner sheath	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISO Inferred from Sequence Orthology more info
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: meiosis-specific nuclear structural 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_001410429.1 → NP_001397358.1 meiosis-specific nuclear structural protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC111135, CT954326
NM_001410430.1 → NP_001397359.1 meiosis-specific nuclear structural protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC111135
NM_008613.4 → NP_032639.1 meiosis-specific nuclear structural protein 1 isoform 1

See identical proteins and their annotated locations for NP_032639.1

Status: VALIDATED

Source sequence(s)

AC111135, CT954326

Consensus CDS

CCDS40684.1

UniProtKB/Swiss-Prot

Q61884

Related

ENSMUSP00000034746.8, ENSMUST00000034746.10

Conserved Domains (1) summary

pfam13868
Location:117 → 462

TPH; Trichohyalin-plectin-homology 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_000075.7 Reference GRCm39 C57BL/6J

Range

72345276..72366036

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154641.1 → XP_036010534.1 meiosis-specific nuclear structural protein 1 isoform X1

Conserved Domains (1) summary

pfam13868
Location:173 → 524

TPH; Trichohyalin-plectin-homology domain