MNS1 meiosis specific nuclear structural 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MNS1provided by HGNC
Official Full Name: meiosis specific nuclear structural 1provided by HGNC
Primary source: HGNC:HGNC:29636
See related: Ensembl:ENSG00000138587 MIM:610766; AllianceGenome:HGNC:29636
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: HTX9; SPATA40
Summary: This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
Expression: Biased expression in testis (RPKM 28.7), kidney (RPKM 5.6) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (56428724..56465137, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (54231531..54267997, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (56720922..56757335, complement)

Chromosome 15 - NC_000015.10 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: 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?

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
Title: Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.
Title: A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.
MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating beta-catenin and predicts poor prognosis.
Title: MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating β-catenin and predicts poor prognosis.
MNS1 variant associated with situs inversus and male infertility.
Title: MNS1 variant associated with situs inversus and male infertility.
MNS1 deficiency in humans causes laterality defects (situs inversus) and likely male infertility, and that MNS1 plays a role in the outer dynein arm-docking complex assembly.
Title: Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Cloning and functional characterization of a highly similar gene in mouse.
Title: cDNA cloning and functional characterization of a meiosis-specific protein (MNS1) with apparent nuclear association.
A rat homologous protein was among the the nuclear proteins that change in abundance or form in response to prolonged hypoxia in the rat kidney fibroblasts.
Title: Proteomics profiling of nuclear proteins for kidney fibroblasts suggests hypoxia, meiosis, and cancer may meet in the nucleus.

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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
Heterotaxy, visceral, 9, autosomal, with male infertility MedGen: C5394551 OMIM: 618948 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of meiosis-specific nuclear structural 1 (MNS1) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
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
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in left/right axis specification	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: meiosis-specific nuclear structural protein 1

Names: spermatogenesis associated 40

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.