• Gene id: 55329

Gene Summary

• Gene Symbol: MNS1   Gene   UCSC   Ensembl
• Aliases: SPATA40
• Gene name: meiosis specific nuclear structural 1
• Alternate names: meiosis-specific nuclear structural protein 1, spermatogenesis associated 40,
• Gene location: 15q21.3 (56465136: 56428723)     Exons: 10     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 610766

Protein Summary

• Protein general information: Q8NEH6  
  • Name: Meiosis specific nuclear structural protein 1
  • Length: 495  
  • Mass: 60571
• Sequence:

  MGSKRRNLSCSERHQKLVDENYCKKLHVQALKNVNSQIRNQMVQNENDNRVQRKQFLRLLQNEQFELDMEEAIQK
  AEENKRLKELQLKQEEKLAMELAKLKHESLKDEKMRQQVRENSIELRELEKKLKAAYMNKERAAQIAEKDAIKYE
  QMKRDAEIAKTMMEEHKRIIKEENAAEDKRNKAKAQYYLDLEKQLEEQEKKKQEAYEQLLKEKLMIDEIVRKIYE
  EDQLEKQQKLEKMNAMRRYIEEFQKEQALWRKKKREEMEEENRKIIEFANMQQQREEDRMAKVQENEEKRLQLQN
  ALTQKLEEMLRQREDLEQVRQELYQEEQAEIYKSKLKEEAEKKLRKQKEMKQDFEEQMALKELVLQAAKEEEENF
  RKTMLAKFAEDDRIELMNAQKQRMKQLEHRRAVEKLIEERRQQFLADKQRELEEWQLQQRRQGFINAIIEEERLK
  LLKEHATNLLGYLPKGVFKKEDDIDLLGEEFRKVYQQRSEICEEK

• Structural information:
  • Interpro: IPR026504  
  • STRING: ENSP00000260453
• Other Databases: GeneCards:  MNS1  Malacards:  MNS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031514	motile cilium	IBA	cellular component
GO:0044782	cilium organization	IBA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045724	positive regulation of cilium assembly	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0070986	left/right axis specification	IEA	biological process
GO:0044782	cilium organization	IEA	biological process
GO:0036126	sperm flagellum	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Male infertility	MIK: 30148830
Male infertility	MIK: 31534215
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31534215	Male infertility	c.407_410del; p.(Glu136Glyfs*16)	Amish	1 family	Male infertility	NGS
30148830	Male infertility	p.Arg242*, p.Gln203*			Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray