MNS1 (meiosis specific nuclear structural 1)

Gene

• Entrez ID: 55329
• Gene name: Meiosis specific nuclear structural 1
• Gene symbol: MNS1
• Synonyms (NCBI Gene): HTX9, SPATA40
• Chromosome: 15
• Chromosome location: 15q21.3
• 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 nuc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1596264554	CTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019835	hsa-miR-375	Microarray	20215506
MIRT024920	hsa-miR-215-5p	Microarray	19074876
MIRT026492	hsa-miR-192-5p	Microarray	19074876
MIRT1153885	hsa-miR-1324	CLIP-seq
MIRT1153886	hsa-miR-2682	CLIP-seq
MIRT1153887	hsa-miR-30a	CLIP-seq
MIRT1153888	hsa-miR-30b	CLIP-seq
MIRT1153889	hsa-miR-30c	CLIP-seq
MIRT1153890	hsa-miR-30d	CLIP-seq
MIRT1153891	hsa-miR-30e	CLIP-seq
MIRT1153892	hsa-miR-3545-3p	CLIP-seq
MIRT1153893	hsa-miR-3607-3p	CLIP-seq
MIRT1153894	hsa-miR-365	CLIP-seq
MIRT1153895	hsa-miR-3714	CLIP-seq
MIRT1153896	hsa-miR-4252	CLIP-seq
MIRT1153897	hsa-miR-449c	CLIP-seq
MIRT1153898	hsa-miR-4539	CLIP-seq
MIRT1153899	hsa-miR-4724-5p	CLIP-seq
MIRT1153900	hsa-miR-561	CLIP-seq
MIRT1153892	hsa-miR-3545-3p	CLIP-seq
MIRT1153893	hsa-miR-3607-3p	CLIP-seq
MIRT1153894	hsa-miR-365	CLIP-seq
MIRT1153896	hsa-miR-4252	CLIP-seq
MIRT1153898	hsa-miR-4539	CLIP-seq
MIRT1153899	hsa-miR-4724-5p	CLIP-seq
MIRT2572285	hsa-miR-1185	CLIP-seq
MIRT2572286	hsa-miR-1224-5p	CLIP-seq
MIRT2572287	hsa-miR-2392	CLIP-seq
MIRT2572288	hsa-miR-3605-5p	CLIP-seq
MIRT2572289	hsa-miR-3679-5p	CLIP-seq
MIRT2572290	hsa-miR-3915	CLIP-seq
MIRT2572291	hsa-miR-431	CLIP-seq
MIRT2572292	hsa-miR-4450	CLIP-seq
MIRT2572293	hsa-miR-4689	CLIP-seq
MIRT2572294	hsa-miR-526b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30148830, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005882	Component	Intermediate filament	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	30148830
GO:0005930	Component	Axoneme	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0036126	Component	Sperm flagellum	ISS
GO:0042802	Function	Identical protein binding	IDA	22396656
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	IEA
GO:0045724	Process	Positive regulation of cilium assembly	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

Other IDs

• MIM: 610766
• HGNC: 29636
• e!Ensembl: ENSG00000138587

Protein

• UniProt ID: Q8NEH6
• Protein name: Meiosis-specific nuclear structural protein 1
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the control of meiotic division and germ cell differentia
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13868	TPH	114 → 465	Trichohyalin-plectin-homology domain	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in nasal respiratory epithelium and in the sperm. {ECO:0000269|PubMed:30148830, ECO:0000269|PubMed:36191189}.
• Sequence:

  MGSKRRNLSCSERHQKLVDENYCKKLHVQALKNVNSQIRNQMVQNENDNRVQRKQFLRLL
  QNEQFELDMEEAIQKAEENKRLKELQLKQEEKLAMELAKLKHESLKDEKMRQQVRENSIE
  LRELEKKLKAAYMNKERAAQIAEKDAIKYEQMKRDAEIAKTMMEEHKRIIKEENAAEDKR
  NKAKAQYYLDLEKQLEEQEKKKQEAYEQLLKEKLMIDEIVRKIYEEDQLEKQQKLEKMNA
  MRRYIEEFQKEQALWRKKKREEMEEENRKIIEFANMQQQREEDRMAKVQENEEKRLQLQN
  ALTQKLEEMLRQREDLEQVRQELYQEEQAEIYKSKLKEEAEKKLRKQKEMKQDFEEQMAL
  KELVLQAAKEEEENFRKTMLAKFAEDDRIELMNAQKQRMKQLEHRRAVEKLIEERRQQFL
  ADKQRELEEWQLQQRRQGFINAIIEEERLKLLKEHATNLLGYLPKGVFKKEDDIDLLGEE
  FRKVYQQRSEICEEK

• Sequence length: 495

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Heterotaxy, visceral, 9, autosomal, with male infertility	Likely pathogenic; Pathogenic	rs139643304, rs750221808, rs549395315, rs2548617770, rs1596264554, rs185005213	RCV002289125 RCV003759898 RCV003881707 RCV003881708 RCV001254888 RCV001250274
MNS1-related disorder	Likely pathogenic; Pathogenic	rs747360063, rs1596264554, rs185005213	RCV003927321 RCV004756036 RCV003405457
Situs inversus	Likely pathogenic	rs1596264554	RCV000785879

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Melanoma	Uncertain significance	rs777078063	RCV005929118

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiomyopathies	Associate	36863704
Heart Failure	Associate	37275875
Infertility Male	Associate	31534215
Laterality Defects Autosomal Dominant	Associate	31534215
Oligospermia	Associate	33037173
Situs Inversus	Associate	31534215